Hirschsprung Disease 1 malady
Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases
50OMIM, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 66UMLS, 11Disease Ontology, 24Genetics Home Reference, 13DISEASES, 22GeneReviews, 23GeneTests, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 12diseasecard, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Hirschsprung Disease 1:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (Ukraine),1-5/10000 (Europe),1-9/100000 (Austria),1-5/10000 (Malta),1-5/10000 (Norway),1-5/10000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases
ICD10: 29 28
Rare gastroenterological diseases
OMIM:50 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is... (142623) more...
MalaCards based summary: Hirschsprung Disease 1, also known as hirschsprung disease, is related to hirschsprung disease, cardiac defects, and autonomic dysfunction and hirschsprung disease 2, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways are G-protein signaling_H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. Affiliated tissues include colon, thyroid and heart, and related mouse phenotypes are pigmentation and muscle.
Disease Ontology:11 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Genetics Home Reference:24 Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.
NIH Rare Diseases:46 Hirschsprung disease is a disease of the large intestine or colon. people with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. symptoms of hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. the symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. last updated: 10/17/2013
UniProtKB/Swiss-Prot:68 Hirschsprung disease 1: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
GeneReviews summary for NBK1439
Symptoms by clinical synopsis from OMIM:142623
Clinical features from OMIM:142623
Symptoms:52 (show all 16)
HPO human phenotypes related to Hirschsprung Disease 1:(show all 21)
UMLS symptoms related to Hirschsprung Disease 1:back pain, chest pain, headache, pain, sciatica, seizures, syncope, tremor, amaurosis fugax, chronic pain, vertigo/dizziness, sleeplessness, scotoma, scintillating
Drugs for Hirschsprung Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 19)
Search NIH Clinical Center for Hirschsprung Disease 1
MalaCards organs/tissues related to Hirschsprung Disease 1:34
Colon, Thyroid, Heart
MGI Mouse Phenotypes related to Hirschsprung Disease 1:39 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:68 (show all 67)
Clinvar genetic disease variations for Hirschsprung Disease 1:5 (show all 18)
Copy number variations for Hirschsprung Disease 1 from CNVD:6 (show top 50) (show all 71)
Search GEO for disease gene expression data for Hirschsprung Disease 1.
Pathways related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:
Cellular components related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:
Biological processes related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet