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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
1 associated gene
6 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Chronic intestinal pseudoobstruction

IKBKG FLNA
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.72)
FLNA



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Chronic intestinal pseudoobstruction
FLNA



Hypohidrotic ectodermal dysplasia with immunodeficiency
Chronic intestinal pseudoobstruction

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

Synonym(s):
- CIPO

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references

Chronic intestinal pseudoobstruction

Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)