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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mucocutaneous venous malformations
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

TEK IKBKG


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Mucocutaneous venous malformations
TEK
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Mucocutaneous venous malformations
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
- Cutaneous and mucosal venous malformation
- VMCM

Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Mucocutaneous venous malformations

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Vascular anomalies of skin / mucosae



X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

(no data available)