Human Phenotype Ontology 
Grandparent Node:
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Functional abnormality of the gastrointestinal tract (HP:0012719)help
Parent Node:
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Abnormal gastrointestinal motility (HP:0030895)help
..Starting node
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Gastrointestinal dysmotility (HP:0002579)help
Term ID: 2579
Name: Gastrointestinal dysmotility
Synonym: GI dysmotility
Definition: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Comments:
Reference: HP:0002579
Genes and Diseases:
 
       Child Nodes:
........expandIleus (HP:0002595) help
................... HP:0002590 Paralytic ileus
................... HP:0010676 Mechanical ileus
........expandIntestinal pseudo-obstruction (HP:0004389) help
........expandSmall intestinal dysmotility (HP:0012850) help
........expandAbnormal peristalsis (HP:0030914) help
................... HP:0100770 Hyperperistalsis
................... HP:0100771 Hypoperistalsis

 Sister Nodes: 
..expandAbnormal gastrointestinal transit time (HP:0030896) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002579HP:0002579Gastrointestinal dysmotility0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0002579HP:0002579Gastrointestinal dysmotility0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0002579HP:0002579Gastrointestinal dysmotility0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002579HP:0002579Gastrointestinal dysmotility0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0002579HP:0002579Gastrointestinal dysmotility0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002579HP:0002579Gastrointestinal dysmotility0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome23
HP:0002579HP:0002579Gastrointestinal dysmotility0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 123
HP:0002579HP:0002579Gastrointestinal dysmotility0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040281 - Very frequent239
HP:0002579HP:0002579Gastrointestinal dysmotility0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040281 - Very frequent150
HP:0002579HP:0002579Gastrointestinal dysmotility0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0002579HP:0002579Gastrointestinal dysmotility0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0002579HP:0002579Gastrointestinal dysmotility0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040281 - Very frequent449
HP:0002579HP:0002579Gastrointestinal dysmotility0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002579HP:0002579Gastrointestinal dysmotility0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002579HP:0002579Gastrointestinal dysmotility0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0002579HP:0002579Gastrointestinal dysmotility0CDK4 CL E G H10191773ORPHA:99971Well-differentiated liposarcomaHP:0040283 - Occasional145
HP:0002579HP:0002579Gastrointestinal dysmotility0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0002579HP:0002579Gastrointestinal dysmotility0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002579HP:0002579Gastrointestinal dysmotility0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002579HP:0002579Gastrointestinal dysmotility0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002579HP:0002579Gastrointestinal dysmotility0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002579HP:0002579Gastrointestinal dysmotility0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002579HP:0002579Gastrointestinal dysmotility0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0002579HP:0002579Gastrointestinal dysmotility0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0002579HP:0002579Gastrointestinal dysmotility0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0002579HP:0002579Gastrointestinal dysmotility0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0002579HP:0002579Gastrointestinal dysmotility0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002579HP:0002579Gastrointestinal dysmotility0DDIT3 CL E G H16492726ORPHA:99967Myxoid/round cell liposarcomaHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002579HP:0002579Gastrointestinal dysmotility0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002579HP:0002579Gastrointestinal dysmotility0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0002579HP:0002579Gastrointestinal dysmotility0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0002579HP:0002579Gastrointestinal dysmotility0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0002579HP:0002579Gastrointestinal dysmotility0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002579HP:0002579Gastrointestinal dysmotility0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked493
HP:0002579HP:0002579Gastrointestinal dysmotility0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002579HP:0002579Gastrointestinal dysmotility0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040283 - Occasional111
HP:0002579HP:0002579Gastrointestinal dysmotility0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0002579HP:0002579Gastrointestinal dysmotility0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0002579HP:0002579Gastrointestinal dysmotility0FUS CL E G H25214010ORPHA:99967Myxoid/round cell liposarcomaHP:0040283 - Occasional105
HP:0002579HP:0002579Gastrointestinal dysmotility0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002579HP:0002579Gastrointestinal dysmotility0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0002579HP:0002579Gastrointestinal dysmotility0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0002579HP:0002579Gastrointestinal dysmotility0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0002579HP:0002579Gastrointestinal dysmotility0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002579HP:0002579Gastrointestinal dysmotility0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0002579HP:0002579Gastrointestinal dysmotility0GUCY2C CL E G H29844688OMIM:614665Meconium ileus12
HP:0002579HP:0002579Gastrointestinal dysmotility0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002579HP:0002579Gastrointestinal dysmotility0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0002579HP:0002579Gastrointestinal dysmotility0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0002579HP:0002579Gastrointestinal dysmotility0HMGA2 CL E G H80915009ORPHA:99971Well-differentiated liposarcomaHP:0040283 - Occasional2
HP:0002579HP:0002579Gastrointestinal dysmotility0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002579HP:0002579Gastrointestinal dysmotility0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0002579HP:0002579Gastrointestinal dysmotility0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0002579HP:0002579Gastrointestinal dysmotility0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002579HP:0002579Gastrointestinal dysmotility0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0002579HP:0002579Gastrointestinal dysmotility0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002579HP:0002579Gastrointestinal dysmotility0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002579HP:0002579Gastrointestinal dysmotility0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002579HP:0002579Gastrointestinal dysmotility0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002579HP:0002579Gastrointestinal dysmotility0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0002579HP:0002579Gastrointestinal dysmotility0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002579HP:0002579Gastrointestinal dysmotility0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0002579HP:0002579Gastrointestinal dysmotility0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0002579HP:0002579Gastrointestinal dysmotility0MDM2 CL E G H41936973ORPHA:99971Well-differentiated liposarcomaHP:0040283 - Occasional1
HP:0002579HP:0002579Gastrointestinal dysmotility0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0002579HP:0002579Gastrointestinal dysmotility0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002579HP:0002579Gastrointestinal dysmotility0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0002579HP:0002579Gastrointestinal dysmotility0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0002579HP:0002579Gastrointestinal dysmotility0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome418
HP:0002579HP:0002579Gastrointestinal dysmotility0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002579HP:0002579Gastrointestinal dysmotility0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0002579HP:0002579Gastrointestinal dysmotility0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome326
HP:0002579HP:0002579Gastrointestinal dysmotility0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0002579Gastrointestinal dysmotility0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002579HP:0002579Gastrointestinal dysmotility0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0002579HP:0002579Gastrointestinal dysmotility0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0002579HP:0002579Gastrointestinal dysmotility0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0002579HP:0002579Gastrointestinal dysmotility0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0002579HP:0002579Gastrointestinal dysmotility0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0002579HP:0002579Gastrointestinal dysmotility0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0002579HP:0002579Gastrointestinal dysmotility0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0002579HP:0002579Gastrointestinal dysmotility0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0002579HP:0002579Gastrointestinal dysmotility0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040281 - Very frequent63
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0002579HP:0002579Gastrointestinal dysmotility0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002579HP:0002579Gastrointestinal dysmotility0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0002579HP:0002579Gastrointestinal dysmotility0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0002579HP:0002579Gastrointestinal dysmotility0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002579HP:0002579Gastrointestinal dysmotility0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0002579HP:0002579Gastrointestinal dysmotility0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0002579HP:0002579Gastrointestinal dysmotility0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002579HP:0002579Gastrointestinal dysmotility0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002579HP:0002579Gastrointestinal dysmotility0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002579HP:0002579Gastrointestinal dysmotility0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002579HP:0002579Gastrointestinal dysmotility0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002579HP:0002579Gastrointestinal dysmotility0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0002579HP:0002579Gastrointestinal dysmotility0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0002579HP:0002579Gastrointestinal dysmotility0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0002579Gastrointestinal dysmotility0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002579HP:0002579Gastrointestinal dysmotility0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0002579HP:0002579Gastrointestinal dysmotility0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0002579HP:0002579Gastrointestinal dysmotility0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002579HP:0002579Gastrointestinal dysmotility0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0002579HP:0002579Gastrointestinal dysmotility0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0002579HP:0002579Gastrointestinal dysmotility0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0002579HP:0002579Gastrointestinal dysmotility0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0002579HP:0030914Abnormal peristalsis1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0002579HP:0030914Abnormal peristalsis1AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0002579HP:0030914Abnormal peristalsis1ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002579HP:0030914Abnormal peristalsis1ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0002579HP:0030914Abnormal peristalsis1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002579HP:0030914Abnormal peristalsis1ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome23
HP:0002579HP:0004389Intestinal pseudo-obstruction1ACTG2 CL E G H72145OMIM:155310Visceral myopathy 1.23
HP:0002579HP:0004389Intestinal pseudo-obstruction1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent5769
HP:0002579HP:0004389Intestinal pseudo-obstruction1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent7642
HP:0002579HP:0002595Ileus1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0002579HP:0004389Intestinal pseudo-obstruction1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent289
HP:0002579HP:0002595Ileus1CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002579HP:0002595Ileus1CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002579HP:0002595Ileus1CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002579HP:0002595Ileus1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002579HP:0002595Ileus1CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002579HP:0030914Abnormal peristalsis1CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome.7
HP:0002579HP:0030914Abnormal peristalsis1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0002579HP:0030914Abnormal peristalsis1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0002579HP:0004389Intestinal pseudo-obstruction1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0012850Small intestinal dysmotility1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040283 - Occasional72
HP:0002579HP:0002595Ileus1DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002579HP:0002595Ileus1EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002579HP:0004389Intestinal pseudo-obstruction1ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0002579HP:0002595Ileus1EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent
HP:0002579HP:0002595Ileus1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0002579HP:0002595Ileus1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002579HP:0004389Intestinal pseudo-obstruction1FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0002579HP:0030914Abnormal peristalsis1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002579HP:0002595Ileus1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0002579HP:0002595Ileus1FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked.32
HP:0002579HP:0002595Ileus1GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002579HP:0030914Abnormal peristalsis1GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0002579HP:0030914Abnormal peristalsis1GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0002579HP:0030914Abnormal peristalsis1GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0002579HP:0002595Ileus1GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002579HP:0030914Abnormal peristalsis1GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0002579HP:0002595Ileus1GUCY2C CL E G H29844688OMIM:614665Meconium ileus12
HP:0002579HP:0002595Ileus1HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002579HP:0002595Ileus1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0002579HP:0002595Ileus1HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0002579HP:0002595Ileus1HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002579HP:0004389Intestinal pseudo-obstruction1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0002579HP:0004389Intestinal pseudo-obstruction1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0002579HP:0030914Abnormal peristalsis1IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0002579HP:0030914Abnormal peristalsis1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002579HP:0004389Intestinal pseudo-obstruction1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002579HP:0030914Abnormal peristalsis1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002579HP:0002595Ileus1KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002579HP:0004389Intestinal pseudo-obstruction1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent196
HP:0002579HP:0004389Intestinal pseudo-obstruction1LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0002579HP:0012850Small intestinal dysmotility1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0002579HP:0030914Abnormal peristalsis1LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0002579HP:0030914Abnormal peristalsis1MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0002579HP:0002595Ileus1MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002579HP:0002595Ileus1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0002579HP:0002595Ileus1MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0002579HP:0030914Abnormal peristalsis1MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome418
HP:0002579HP:0030914Abnormal peristalsis1MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002579HP:0004389Intestinal pseudo-obstruction1MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002579HP:0030914Abnormal peristalsis1MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0002579HP:0030914Abnormal peristalsis1MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndrome326
HP:0002579HP:0030914Abnormal peristalsis1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0012850Small intestinal dysmotility1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0004389Intestinal pseudo-obstruction1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent1349
HP:0002579HP:0004389Intestinal pseudo-obstruction1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent192
HP:0002579HP:0030914Abnormal peristalsis1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0002579HP:0012850Small intestinal dysmotility1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional464
HP:0002579HP:0002595Ileus1PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0002579HP:0004389Intestinal pseudo-obstruction1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent
HP:0002579HP:0004389Intestinal pseudo-obstruction1RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0002579HP:0030914Abnormal peristalsis1RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0002579HP:0012850Small intestinal dysmotility1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0002579HP:0030914Abnormal peristalsis1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0002579HP:0002595Ileus1SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002579HP:0002595Ileus1SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002579HP:0002595Ileus1SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002579HP:0002595Ileus1SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002579HP:0002595Ileus1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0002579HP:0002595Ileus1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0002579HP:0002595Ileus1SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002579HP:0004389Intestinal pseudo-obstruction1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent504
HP:0002579HP:0004389Intestinal pseudo-obstruction1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0002579HP:0002595Ileus1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0002579HP:0002595Ileus1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0002579HP:0030914Abnormal peristalsis1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002579HP:0002595Ileus1STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002579HP:0002595Ileus1TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002579HP:0002595Ileus1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002579HP:0004389Intestinal pseudo-obstruction1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040282 - Frequent911
HP:0002579HP:0030914Abnormal peristalsis1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0002579HP:0030914Abnormal peristalsis1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0002579HP:0004389Intestinal pseudo-obstruction1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0002579HP:0004389Intestinal pseudo-obstruction1TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional113
HP:0002579HP:0004389Intestinal pseudo-obstruction1TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0002579HP:0012850Small intestinal dysmotility1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0002579HP:0002595Ileus1WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent177
HP:0002579HP:0100770Hyperperistalsis2 CL E G H
HP:0002579HP:0100771Hypoperistalsis2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0002579HP:0100771Hypoperistalsis2AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0002579HP:0100771Hypoperistalsis2ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome94
HP:0002579HP:0100771Hypoperistalsis2ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0002579HP:0100771Hypoperistalsis2ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002579HP:0100771Hypoperistalsis2ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent23
HP:0002579HP:0010676Mechanical ileus2CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002579HP:0010676Mechanical ileus2CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002579HP:0010676Mechanical ileus2CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002579HP:0010676Mechanical ileus2CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002579HP:0010676Mechanical ileus2CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002579HP:0100771Hypoperistalsis2COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0002579HP:0100771Hypoperistalsis2COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0002579HP:0010676Mechanical ileus2DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002579HP:0010676Mechanical ileus2EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002579HP:0002590Paralytic ileus2FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0002579HP:0010676Mechanical ileus2FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002579HP:0100771Hypoperistalsis2FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002579HP:0010676Mechanical ileus2GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002579HP:0100771Hypoperistalsis2GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0002579HP:0100771Hypoperistalsis2GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0002579HP:0100771Hypoperistalsis2GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0002579HP:0010676Mechanical ileus2GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002579HP:0100771Hypoperistalsis2GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0002579HP:0010676Mechanical ileus2GUCY2C CL E G H29844688OMIM:614665Meconium ileus12
HP:0002579HP:0010676Mechanical ileus2HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002579HP:0002590Paralytic ileus2HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0002579HP:0010676Mechanical ileus2HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002579HP:0100771Hypoperistalsis2IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0002579HP:0100771Hypoperistalsis2IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002579HP:0100771Hypoperistalsis2IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002579HP:0010676Mechanical ileus2KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002579HP:0100771Hypoperistalsis2LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent
HP:0002579HP:0100771Hypoperistalsis2MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0002579HP:0010676Mechanical ileus2MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002579HP:0002590Paralytic ileus2MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0002579HP:0002590Paralytic ileus2MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0002579HP:0100771Hypoperistalsis2MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent418
HP:0002579HP:0100771Hypoperistalsis2MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002579HP:0100771Hypoperistalsis2MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0002579HP:0100771Hypoperistalsis2MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040281 - Very frequent326
HP:0002579HP:0100771Hypoperistalsis2MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0100771Hypoperistalsis2PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002579HP:0100771Hypoperistalsis2RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0002579HP:0100771Hypoperistalsis2SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0002579HP:0010676Mechanical ileus2SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002579HP:0010676Mechanical ileus2SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002579HP:0010676Mechanical ileus2SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002579HP:0010676Mechanical ileus2SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002579HP:0010676Mechanical ileus2SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002579HP:0100771Hypoperistalsis2STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002579HP:0010676Mechanical ileus2STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002579HP:0010676Mechanical ileus2TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002579HP:0010676Mechanical ileus2TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002579HP:0100771Hypoperistalsis2TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0002579HP:0100771Hypoperistalsis2TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0002579HP:0031857Ineffective esophageal peristalsis3AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0002579HP:0031857Ineffective esophageal peristalsis3AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0002579HP:0031857Ineffective esophageal peristalsis3ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0002579HP:0031857Ineffective esophageal peristalsis3ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002579HP:0004401Meconium ileus3CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002579HP:0004401Meconium ileus3CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002579HP:0004401Meconium ileus3CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002579HP:0004401Meconium ileus3CFTR CL E G H10801884OMIM:219700Cystic fibrosis.1371
HP:0002579HP:0004401Meconium ileus3CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002579HP:0031857Ineffective esophageal peristalsis3COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0002579HP:0031857Ineffective esophageal peristalsis3COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0002579HP:0004401Meconium ileus3DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002579HP:0004401Meconium ileus3EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002579HP:0004401Meconium ileus3FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis.6
HP:0002579HP:0031857Ineffective esophageal peristalsis3FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002579HP:0004401Meconium ileus3GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002579HP:0031857Ineffective esophageal peristalsis3GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0002579HP:0031857Ineffective esophageal peristalsis3GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0002579HP:0031857Ineffective esophageal peristalsis3GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0002579HP:0004401Meconium ileus3GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002579HP:0031857Ineffective esophageal peristalsis3GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0002579HP:0004401Meconium ileus3GUCY2C CL E G H29844688OMIM:614665Meconium ileus.12
HP:0002579HP:0004401Meconium ileus3HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002579HP:0004401Meconium ileus3HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002579HP:0031857Ineffective esophageal peristalsis3IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0002579HP:0031857Ineffective esophageal peristalsis3IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002579HP:0031857Ineffective esophageal peristalsis3IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002579HP:0004401Meconium ileus3KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002579HP:0031857Ineffective esophageal peristalsis3MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0002579HP:0004401Meconium ileus3MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002579HP:0031857Ineffective esophageal peristalsis3MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002579HP:0031857Ineffective esophageal peristalsis3MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0031857Ineffective esophageal peristalsis3PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0002579HP:0031857Ineffective esophageal peristalsis3SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0002579HP:0004401Meconium ileus3SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002579HP:0004401Meconium ileus3SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002579HP:0004401Meconium ileus3SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002579HP:0004401Meconium ileus3SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002579HP:0004401Meconium ileus3SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002579HP:0031857Ineffective esophageal peristalsis3STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002579HP:0004401Meconium ileus3STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002579HP:0004401Meconium ileus3TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis.13
HP:0002579HP:0004401Meconium ileus3TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002579HP:0031857Ineffective esophageal peristalsis3TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0002579HP:0031857Ineffective esophageal peristalsis3TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0002579HP:0002571Achalasia4AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0002579HP:0002571Achalasia4AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040281 - Very frequent57
HP:0002579HP:0002571Achalasia4ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0002579HP:0002571Achalasia4ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0002579HP:0002571Achalasia4COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0002579HP:0002571Achalasia4COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0002579HP:0002571Achalasia4FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.HP:0011463 - Childhood onset111
HP:0002579HP:0002571Achalasia4GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0002579HP:0002571Achalasia4GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome.24
HP:0002579HP:0002571Achalasia4GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040281 - Very frequent24
HP:0002579HP:0002571Achalasia4GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia.
HP:0002579HP:0002571Achalasia4IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0002579HP:0002571Achalasia4IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002579HP:0002571Achalasia4IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002579HP:0002571Achalasia4MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0002579HP:0002571Achalasia4MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002579HP:0002571Achalasia4SAMD9 CL E G H548091348OMIM:617053Mirage syndromeHP:0040283 - Occasional8
HP:0002579HP:0002571Achalasia4STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002579HP:0002571Achalasia4TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040283 - Occasional27
HP:0002579HP:0002571Achalasia4TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040281 - Very frequent27


Genes (108) :AAAS ACTA2 ACTB ACTG2 ATP1A2 ATP1A3 BRCA1 BRCA2 CACNA1A CAMK2A CAMK2B CAVIN1 CDK4 CDKN2A CEACAM3 CEACAM6 CFTR CLCA4 CLMP COL4A5 COL4A6 COX1 COX2 COX3 CPOX DCTN4 DDIT3 DHCR7 EDNRA ERBB3 EWSR1 FAH FCGR2A FLNA FLVCR1 FOXP3 FUS GCLC GLA GMPPA GSTM3 GUCY1A1 GUCY2C HFE HMBS HMGA2 HMOX1 HNRNPK HSD17B10 IARS2 IDS IVNS1ABP KCNN4 KRAS LIG3 LMOD1 MDM2 MEIS2 MIF MTRFR MYH11 MYL9 MYLK MYO1H ND1 ND4 ND5 ND6 NUTM2B-AS1 PALB2 PALLD PHOX2B POLG PPOX RABL3 RAD21 RRM2B SAMD9 SERPINA1 SLC11A1 SLC1A3 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SMAD4 SMO SON SOX10 STAT3 STX1A TANGO2 TGFB1 TP53 TRAPPC11 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TWNK TXN2 TYMP UBR7 WFS1 WT1

Diseases (71) :OMIM:231550 ORPHA:869 OMIM:613834 ORPHA:79107 OMIM:607371 ORPHA:2241 OMIM:155310 ORPHA:2131 ORPHA:1333 OMIM:617798 OMIM:617799 OMIM:613327 ORPHA:99971 ORPHA:586 OMIM:219700 OMIM:615237 ORPHA:1018 ORPHA:550 ORPHA:79273 ORPHA:99967 OMIM:270400 OMIM:243180 ORPHA:83469 OMIM:276700 OMIM:300048 OMIM:609033 ORPHA:88628 ORPHA:37042 OMIM:304790 ORPHA:324 OMIM:615510 OMIM:615750 OMIM:614665 ORPHA:79276 OMIM:176000 ORPHA:352665 ORPHA:453504 ORPHA:391428 ORPHA:436174 OMIM:616007 OMIM:309900 OMIM:618969 OMIM:619780 ORPHA:298 OMIM:600987 ORPHA:254930 OMIM:613559 OMIM:619350 OMIM:619365 OMIM:619482 OMIM:618637 OMIM:209880 OMIM:603041 OMIM:613662 OMIM:607459 ORPHA:70595 ORPHA:79473 OMIM:611376 OMIM:617053 OMIM:300352 ORPHA:52503 OMIM:601707 ORPHA:500150 OMIM:609136 ORPHA:163746 OMIM:615952 ORPHA:480864 OMIM:615356 ORPHA:478029 OMIM:619189 ORPHA:411590
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.