Details of Disease

General Information of Disease (ID: DISTTB4V)

Disease Name Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Synonyms OLEDAID; ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; ol-EDA-ID
Definition This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Disease Hierarchy
DISBPHHV: IKBKG-related immunodeficiency with or without ectodermal dysplasia
DIS4D8VL: Lymphatic malformation
DIS7GHNM: Osteopetrosis
DISLRS4M: Ectodermal dysplasia
DISTTB4V: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease Identifiers
MONDO ID
MONDO_0010295
UMLS CUI
C4303737
MedGen ID
929406
Orphanet ID
69088
SNOMED CT ID
720986005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKG OTNWJWSD Definitive X-linked recessive [1]
------------------------------------------------------------------------------------

References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.