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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
7 associated genes
17 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hirschsprung disease

IKBKG ECE1
NFKBIA EDN3
EDNRB
GDNF
L1CAM
NRTN
RET


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.68)
RET



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Hirschsprung disease
ECE1 EDN3 EDNRB GDNF L1CAM NRTN
RET



Hypohidrotic ectodermal dysplasia with immunodeficiency
Hirschsprung disease

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Synonym(s):
- Aganglionic megacolon
- Congenital intestinal aganglionosis
- HSCR

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
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:
2 OMIM references -
No MeSH references
External references:
9 OMIM references -
1 MeSH reference: D006627

Hirschsprung disease

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

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

Occasional
- 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


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)