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HSCR1
MCID: HRS035
MIFTS: 66
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Hirschsprung Disease 1 (HSCR1)
Categories:
Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Hirschsprung Disease 1:
Characteristics:Orphanet epidemiological data:60
hirschsprung disease
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; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
male predominance of 3:1 to 5:1 familial (10%) and isolated cases HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Gastrointestinal diseases Neuronal diseases
ICD10:
34
35
External Ids:
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NIH Rare Diseases
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54
Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments). HSCR is considered a neurocristopathy, a disorder of cells and tissues derived from the neural crest, (a group of embryonic cells of the neural tube that forms several structures, of the body). HSCR may occur as an isolated finding or as part of a another disorder. Isolated HSCR is associated with mutations in several genes. Treatment is with surgery, removing the aganglionic intestinal segment.
MalaCards based summary : Hirschsprung Disease 1, also known as hirschsprung disease, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4a. An important gene associated with Hirschsprung Disease 1 is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Vaccines and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and heart, and related phenotypes are nausea and vomiting and constipation Disease Ontology : 12 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. Genetics Home Reference : 26 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. OMIM : 58 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. (142623) UniProtKB/Swiss-Prot : 76 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. Wikipedia : 77 Hirschsprung''s disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the... more...
GeneReviews:
NBK1439
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Human phenotypes related to Hirschsprung Disease 1:60 33 (show all 20)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:142623 |
Drugs for Hirschsprung Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 14)
Interventional clinical trials:(show all 26)
Cochrane evidence based reviews: hirschsprung disease |
MalaCards organs/tissues related to Hirschsprung Disease 1:42
Colon,
Thyroid,
Heart,
Kidney,
Brain,
Testes,
Appendix
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Articles related to Hirschsprung Disease 1:(show top 50) (show all 690)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:76 (show top 50) (show all 67)
ClinVar genetic disease variations for Hirschsprung Disease 1:6 (show top 50) (show all 203)
Copy number variations for Hirschsprung Disease 1 from CNVD:7 (show top 50) (show all 71)
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Search
GEO
for disease gene expression data for Hirschsprung Disease 1.
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Pathways related to Hirschsprung Disease 1 according to KEGG:38
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Biological processes related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Hirschsprung Disease 1 according to GeneCards Suite gene sharing:
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