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Immunodeficiency by defective expression of HLA class 1
1 OMIM reference -
3 associated genes
16 connected diseases
No signs/symptoms info
Disease Type of connection
Chorioretinopathy, Birdshot type
Autosomal dominant beta2-microglobulinic amyloidosis
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
CANDLE syndrome
JMP syndrome
Nakajo-Nishimura syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Estrogen resistance syndrome
Isolated CoQ-cytochrome C reductase deficiency
Synonym(s):
- Bare lymphocyte syndrome type 1
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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TAP1 Q03518170260
TAP2 Q03519170261
TAPBP O15533601962
No signs/symptoms info available.