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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Brachydactyly type B

IKBKG ROR2
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.56)
ROR2



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Brachydactyly type B
ROR2



Hypohidrotic ectodermal dysplasia with immunodeficiency
Brachydactyly type B

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Brachydactyly type B

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)