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Hyper-IgM syndrome type 2
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Pontocerebellar hypoplasia type 1
Severe combined immunodeficiency due to DNA-PKcs deficiency
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant progressive external ophthalmoplegia
Baraitser-Winter syndrome
Familial congenital mirror movements
Hereditary breast and ovarian cancer syndrome
Kearns-Sayre syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
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
Synonym(s):
- AID deficiency
- Activation-induced cytidine deaminase deficiency
- HIGM2
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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AICDA Q9GZX7605257
No signs/symptoms info available.