Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the digestive system (HP:0025031)help
Parent Node:
expand
Abnormality of digestive system physiology (HP:0025032)help
..Starting node
..expand
Abnormal large intestine physiology (HP:0012700)help
Term ID: 12700
Name: Abnormal large intestine physiology
Synonym:
Definition: A functional anomaly of the large intestine.
Comments:
Reference: HP:0012700
Genes and Diseases:
 
       Child Nodes:
........expandBowel incontinence (HP:0002607) help
................... HP:0040183 Encopresis
........expandColonic inertia (HP:0012423) help
........expandBowel urgency (HP:0012701) help
........expandTenesmus (HP:0012702) help

 Sister Nodes: 
..expandAbdominal symptom (HP:0011458) help
..expandAbnormality of hepatobiliary system physiology (HP:0025155) help
..expandDependency on intravenous nutrition (HP:0025156) help
..expandFunctional abnormality of the gastrointestinal tract (HP:0012719) 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:0012700HP:0012700Abnormal large intestine physiology0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0012700HP:0012700Abnormal large intestine physiology0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0012700HP:0012700Abnormal large intestine physiology0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0012700HP:0012700Abnormal large intestine physiology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0012700HP:0012700Abnormal large intestine physiology0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0012700HP:0012700Abnormal large intestine physiology0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0012700HP:0012700Abnormal large intestine physiology0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0012700HP:0012700Abnormal large intestine physiology0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0012700HP:0012700Abnormal large intestine physiology0CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 16
HP:0012700HP:0012700Abnormal large intestine physiology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0012700HP:0012700Abnormal large intestine physiology0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0012700HP:0012700Abnormal large intestine physiology0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0012700HP:0012700Abnormal large intestine physiology0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0012700HP:0012700Abnormal large intestine physiology0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0012700HP:0012700Abnormal large intestine physiology0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0012700HP:0012700Abnormal large intestine physiology0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0012700HP:0012700Abnormal large intestine physiology0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012700HP:0012700Abnormal large intestine physiology0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0012700HP:0012700Abnormal large intestine physiology0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0012700HP:0012700Abnormal large intestine physiology0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0012700HP:0012700Abnormal large intestine physiology0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0012700HP:0012700Abnormal large intestine physiology0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0012700HP:0012700Abnormal large intestine physiology0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0012700HP:0012700Abnormal large intestine physiology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0012700HP:0012700Abnormal large intestine physiology0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0012700HP:0012700Abnormal large intestine physiology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0012700HP:0012700Abnormal large intestine physiology0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndrome9
HP:0012700HP:0012700Abnormal large intestine physiology0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0012700HP:0012700Abnormal large intestine physiology0ISL1 CL E G H36706132ORPHA:93930Bladder exstrophy2
HP:0012700HP:0012700Abnormal large intestine physiology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0012700HP:0012700Abnormal large intestine physiology0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0012700HP:0012700Abnormal large intestine physiology0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012700HP:0012700Abnormal large intestine physiology0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndrome5
HP:0012700HP:0012700Abnormal large intestine physiology0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0012700HP:0012700Abnormal large intestine physiology0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012700HP:0012700Abnormal large intestine physiology0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0012700HP:0012700Abnormal large intestine physiology0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0012700HP:0012700Abnormal large intestine physiology0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 260
HP:0012700HP:0012700Abnormal large intestine physiology0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0012700HP:0012700Abnormal large intestine physiology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0012700HP:0012700Abnormal large intestine physiology0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 1225
HP:0012700HP:0012700Abnormal large intestine physiology0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0012700HP:0012700Abnormal large intestine physiology0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0012700HP:0012700Abnormal large intestine physiology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0012700HP:0012700Abnormal large intestine physiology0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0012700HP:0012700Abnormal large intestine physiology0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0012700HP:0012700Abnormal large intestine physiology0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0012700HP:0012700Abnormal large intestine physiology0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0012700HP:0012700Abnormal large intestine physiology0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0012700HP:0012700Abnormal large intestine physiology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0012700HP:0012700Abnormal large intestine physiology0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0012700HP:0012700Abnormal large intestine physiology0TP63 CL E G H862615979ORPHA:93930Bladder exstrophy140
HP:0012700HP:0012700Abnormal large intestine physiology0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12
HP:0012700HP:0012700Abnormal large intestine physiology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0012700HP:0012700Abnormal large intestine physiology0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0012700HP:0012700Abnormal large intestine physiology0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0012700HP:0012700Abnormal large intestine physiology0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0012700HP:0012700Abnormal large intestine physiology0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0012700HP:0012700Abnormal large intestine physiology0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189
HP:0012700HP:0012423Colonic inertia1 CL E G H
HP:0012700HP:0002607Bowel incontinence1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0012700HP:0002607Bowel incontinence1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0012700HP:0002607Bowel incontinence1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0012700HP:0002607Bowel incontinence1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0012700HP:0002607Bowel incontinence1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0012700HP:0012701Bowel urgency1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0012700HP:0002607Bowel incontinence1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0012700HP:0002607Bowel incontinence1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0012700HP:0002607Bowel incontinence1CFAP43 CL E G H8021726684OMIM:236690Hydrocephalus, normal pressure, 1.6
HP:0012700HP:0002607Bowel incontinence1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0012700HP:0002607Bowel incontinence1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0012700HP:0002607Bowel incontinence1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0012700HP:0012701Bowel urgency1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0012700HP:0002607Bowel incontinence1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessiveHP:0040283 - Occasional29
HP:0012700HP:0002607Bowel incontinence1DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0012700HP:0012701Bowel urgency1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0012700HP:0002607Bowel incontinence1DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0012700HP:0002607Bowel incontinence1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0012700HP:0002607Bowel incontinence1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040283 - Occasional76
HP:0012700HP:0002607Bowel incontinence1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040284 - Very rare111
HP:0012700HP:0002607Bowel incontinence1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0012700HP:0002607Bowel incontinence1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0012700HP:0002607Bowel incontinence1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0012700HP:0012702Tenesmus1GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0012700HP:0002607Bowel incontinence1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0012700HP:0002607Bowel incontinence1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0012700HP:0002607Bowel incontinence1HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040283 - Occasional9
HP:0012700HP:0002607Bowel incontinence1HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0012700HP:0002607Bowel incontinence1ISL1 CL E G H36706132ORPHA:93930Bladder exstrophyHP:0040283 - Occasional2
HP:0012700HP:0002607Bowel incontinence1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0012700HP:0002607Bowel incontinence1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0012700HP:0002607Bowel incontinence1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0012700HP:0002607Bowel incontinence1LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040283 - Occasional5
HP:0012700HP:0002607Bowel incontinence1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0012700HP:0002607Bowel incontinence1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0012700HP:0002607Bowel incontinence1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0012700HP:0002607Bowel incontinence1PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040282 - Frequent60
HP:0012700HP:0002607Bowel incontinence1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0012700HP:0002607Bowel incontinence1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012700HP:0002607Bowel incontinence1RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040283 - Occasional25
HP:0012700HP:0002607Bowel incontinence1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0012700HP:0002607Bowel incontinence1SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0012700HP:0002607Bowel incontinence1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012700HP:0002607Bowel incontinence1SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0012700HP:0002607Bowel incontinence1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0012700HP:0002607Bowel incontinence1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0012700HP:0002607Bowel incontinence1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0012700HP:0002607Bowel incontinence1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0012700HP:0002607Bowel incontinence1TP63 CL E G H862615979ORPHA:93930Bladder exstrophyHP:0040283 - Occasional140
HP:0012700HP:0002607Bowel incontinence1UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040283 - Occasional
HP:0012700HP:0002607Bowel incontinence1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0012700HP:0002607Bowel incontinence1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111
HP:0012700HP:0002607Bowel incontinence1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0012700HP:0002607Bowel incontinence1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0012700HP:0002607Bowel incontinence1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0012700HP:0002607Bowel incontinence1ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0012700HP:0040183Encopresis2DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0012700HP:0040183Encopresis2MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities


Genes (55) :ABCD1 ARSA ARVCF ATP13A2 ATRX BCR C19ORF12 CFAP43 COMT CRKL DACT1 DAXX DDHD2 DMPK DSTYK EIF2AK2 FA2H FLVCR1 FMR1 FUZ GLA GP1BB GPR35 HIRA HPSE2 HTRA1 ISL1 JMJD1C KY LMNB1 LRIG2 MAPK1 MAPK8IP3 MST1 NOP56 PLP1 PSAP RREB1 RTN2 SALL1 SCN4A SEC24C SEMA4D SLC44A1 SLC9A6 TBCD TBX1 TCF4 TP63 UBAP1 UFD1 VANGL1 VCP ZEB2 ZFYVE26

Diseases (39) :OMIM:300100 ORPHA:139399 ORPHA:309271 ORPHA:567 ORPHA:306674 ORPHA:100075 ORPHA:261330 ORPHA:289560 OMIM:236690 ORPHA:857 OMIM:615033 ORPHA:589821 ORPHA:101003 OMIM:618877 ORPHA:171629 ORPHA:88628 OMIM:300623 ORPHA:93256 ORPHA:3027 OMIM:301500 ORPHA:171 ORPHA:2704 OMIM:600142 ORPHA:93930 OMIM:617114 OMIM:169500 OMIM:618443 ORPHA:276198 ORPHA:99015 ORPHA:100993 ORPHA:682 OMIM:618868 OMIM:300243 ORPHA:496641 OMIM:617193 ORPHA:329478 ORPHA:261552 ORPHA:261537 OMIM:270700
 

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