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HSCR1
MCID: HRS035
MIFTS: 65
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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:58
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:56
Inheritance:
autosomal dominant
Miscellaneous:
male predominance of 3:1 to 5:1 familial (10%) and isolated cases HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Gastrointestinal diseases Neuronal diseases
ICD10:
32
33
Orphanet: 58
Rare gastroenterological diseases External Ids:
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Genetics Home Reference :
25
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.
Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.
There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).
Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.
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 Acetaminophen and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and thyroid, and related phenotypes are nausea and vomiting and abdominal pain Disease Ontology : 12 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. NIH Rare Diseases : 52 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. OMIM : 56 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) KEGG : 36 Hirschsprung disease (HD) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HD. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells. UniProtKB/Swiss-Prot : 73 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 : 74 Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the... more... |
Human phenotypes related to Hirschsprung Disease 1:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:142623 |
Drugs for Hirschsprung Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:(show all 41)
Cochrane evidence based reviews: hirschsprung disease |
MalaCards organs/tissues related to Hirschsprung Disease 1:40
Colon,
Small Intestine,
Thyroid,
Heart,
Testes,
Kidney,
Liver
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Articles related to Hirschsprung Disease 1:(show top 50) (show all 1747)
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- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hirschsprung Disease 1:6 (show top 50) (show all 276)
UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 1:73 (show top 50) (show all 67)
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:36
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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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