Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormal stomach morphology (HP:0002577)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Gastroparesis (HP:0002578)help
Term ID: 2578
Name: Gastroparesis
Synonym: Delayed gastric emptying
Definition: Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
Comments:
Reference: HP:0002578
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the abdominal musculature (HP:0010991) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of facial musculature (HP:0000301) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) 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:0002578HP:0002578Gastroparesis0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 123
HP:0002578HP:0002578Gastroparesis0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002578HP:0002578Gastroparesis0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0002578HP:0002578Gastroparesis0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002578HP:0002578Gastroparesis0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002578HP:0002578Gastroparesis0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0002578HP:0002578Gastroparesis0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0002578HP:0002578Gastroparesis0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0002578HP:0002578Gastroparesis0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002578HP:0002578Gastroparesis0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0002578HP:0002578Gastroparesis0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0002578HP:0002578Gastroparesis0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0002578HP:0002578Gastroparesis0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0002578HP:0002578Gastroparesis0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0002578HP:0002578Gastroparesis0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0002578HP:0002578Gastroparesis0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002578HP:0002578Gastroparesis0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0002578HP:0002578Gastroparesis0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0002578HP:0002578Gastroparesis0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002578HP:0002578Gastroparesis0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0002578HP:0002578Gastroparesis0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0002578HP:0002578Gastroparesis0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002578HP:0002578Gastroparesis0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0002578HP:0002578Gastroparesis0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0002578HP:0002578Gastroparesis0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002578HP:0002578Gastroparesis0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002578HP:0002578Gastroparesis0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002578HP:0002578Gastroparesis0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002578HP:0002578Gastroparesis0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0002578HP:0002578Gastroparesis0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional464
HP:0002578HP:0002578Gastroparesis0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002578HP:0002578Gastroparesis0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0002578HP:0002578Gastroparesis0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0002578HP:0002578Gastroparesis0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0002578HP:0002578Gastroparesis0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002578HP:0002578Gastroparesis0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002578HP:0002578Gastroparesis0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002578HP:0002578Gastroparesis0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0002578HP:0002578Gastroparesis0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0002578HP:0002578Gastroparesis0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0002578HP:0002578Gastroparesis0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002578HP:0002578Gastroparesis0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0002578HP:0002578Gastroparesis0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0002578HP:0002578Gastroparesis0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002578HP:0002578Gastroparesis0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0002578HP:0002578Gastroparesis0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040283 - Occasional113
HP:0002578HP:0002578Gastroparesis0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002578HP:0002578Gastroparesis0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0002578HP:0002578Gastroparesis0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8


Genes (33) :ACTG2 AFF4 ATP7A DNAJC6 EIF2AK2 HNRNPK HTRA2 LRRK2 MAGEL2 MAP3K7 MGAT2 MPEG1 MYH11 NDN OCA2 PARK7 PINK1 PODXL POLG POLG2 PRKN RAD21 RRM2B SLC25A4 SNCA SNRPN SON SYNJ1 TMEM70 TWNK TYMP UCHL1 VPS13C

Diseases (23) :OMIM:155310 OMIM:616368 ORPHA:198 ORPHA:2828 OMIM:618877 ORPHA:352665 ORPHA:453504 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:157800 ORPHA:79329 OMIM:619223 OMIM:619350 ORPHA:254892 OMIM:603041 OMIM:157640 OMIM:607459 ORPHA:70595 OMIM:610131 OMIM:611376 ORPHA:500150 OMIM:614052
 

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