Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAutonomic Nervous System Diseases (D001342)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandHirschsprung Disease (D006627)
..Starting node
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)

       Child Nodes:



 Sister Nodes: 
..expandAganglionosis, total intestinal (C538058)
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandGoldberg-Shprintzen megacolon syndrome (C537279)
..expandHirschsprung disease 1 (C538540)
..expandHirschsprung disease ganglioneuroblastoma (C538119)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung disease type 3 (C538121)
..expandHirschsprung disease type d brachydactyly (C538319)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandMowat-Wilson syndrome (C536990)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandSantos Mateus Leal syndrome (C537235)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWaardenburg Syndrome, Type 4b (C567680)
..expandWaardenburg Syndrome, Type 4c (C567679)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5197
Name:Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Definition:
Alternative IDs:
ParentIDs:MESH:D001342|MESH:D006330|MESH:D006627
TreeNumbers:C06.198.439/C563939 |C06.405.469.158.701.439/C563939 |C10.177/C563939 |C14.240.400/C563939 |C14.280.400/C563939 |C16.131.240.400/C563939 |C16.131.314.439/C563939
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Digestive system disease|Nervous system disease
Reference: MedGen: C563939
MeSH: C563939
OMIM: 613870;

Genes: ECE1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002459obsolete Dysautonomia
3 HP:0002251Aganglionic megacolon
4 HP:0000713Agitation
5 HP:0001631Atrial septal defect
6 HP:0000414Bulbous nose
7 HP:0009626Contractures of the interphalangeal joint of the thumb
8 HP:0000378Cupped ear
9 HP:0001795Hyperconvex nail
10 HP:0000822Hypertension
11 HP:0000054Micropenis
12 HP:0001643Patent ductus arteriosus
13 HP:0000358Posteriorly rotated ears
14 HP:0000426Prominent nasal bridge
15 HP:0003196Short nose
16 HP:0002133Status epilepticus
17 HP:0001649Tachycardia
18 HP:0001182Tapered finger
19 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001113348.1(ECE1):c.2212C>T (p.Arg738Cys)1889ECE1Pathogenic3026906RCV000009704; NMedGen:C3151237,OMIM:61387012154650121546501NM_001113348.1:c.2212C>TNP_001106819.1:p.Arg738CysNC_000001.10:g.21546501G>AOMIM Allelic Variant:600423.0001C3151237 613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction