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X-linked hyper-IgM syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
B-cell chronic lymphocytic leukemia
Hyper-IgM syndrome type 3
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Alpha-crystallinopathy
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
MALT lymphoma
Posterior polar cataract
Zonular cataract
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Synonym(s):
- HIGM1
- Hyper-IgM syndrome due to CD40 ligand deficiency
- Hyper-IgM syndrome due to CD40L deficiency
- Hyper-IgM syndrome type 1
- XHIGM
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
CD40LG P29965300386
No signs/symptoms info available.