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Hirschsprung disease
9 OMIM references -
7 associated genes
59 connected diseases
17 signs/symptoms
Disease Type of connection
Waardenburg-Shah syndrome
Ondine syndrome
Bilateral renal agenesis
Bilateral renal dysplasia
Familial medullary thyroid carcinoma
Haddad syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Papillary or follicular thyroid carcinoma
Unilateral renal dysplasia
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Auriculocondylar syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome
Autosomal dominant hyper-IgE syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Benign adult familial myoclonic epilepsy
Autosomal dominant hypocalcemia
Familial hypocalciuric hypercalcemia type 2
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Congenital glaucoma
Hereditary gingival fibromatosis
Juvenile glaucoma
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
8p11.2 deletion syndrome
Hereditary spherocytosis
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Congenital high-molecular-weight kininogen deficiency
Congenital lethal myopathy, Compton-North type
Distal 22q11.2 microdeletion syndrome
LEOPARD syndrome
Renal tubular dysgenesis of genetic origin
Romano-Ward syndrome
Arthrogryposis-like syndrome
Blackfan-Diamond anemia
Bruck syndrome
CLN4B disease
Familial isolated congenital asplenia
Osteogenesis imperfecta type 5
Primary immunodeficiency syndrome due to p14 deficiency
X-linked myopathy with excessive autophagy
- Aganglionic megacolon
- Congenital intestinal aganglionosis

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
9 OMIM references -
1 MeSH reference: D006627

Very frequent
- Acute abdominal pain / colic
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Functional anomalies of the digestive system
- Intestinal obstruction / ileus
- Nausea / vomiting / regurgitation / merycism / hyperemesis

- Weight loss / loss of appetite / break in weight curve / general health alteration

- Acute diarrhea
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal perforation
- Polyposis of the bowel / colon / intestine
- Sensorineural deafness / hearing loss
- Sepsis severe / septicemia
- Short stature / dwarfism / nanism
- Thyroid neoplasm / tumor / carcinoma / cancer