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Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Ear-patella-short stature syndrome
Burkitt lymphoma
Cornelia de Lange syndrome
Dedifferentiated liposarcoma
LIG4 syndrome
Omenn syndrome
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Split hand-split foot malformation
Well-differentiated liposarcoma
X-linked Emery-Dreifuss muscular dystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MCM4 P33991602638
No signs/symptoms info available.