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Hyper-IgM syndrome type 3
1 OMIM reference -
1 associated gene
27 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Chronic mucocutaneous candidiasis
Common variable immunodeficiency
X-linked hyper-IgM syndrome
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Autosomal agammaglobulinemia
SHORT syndrome
Precursor T-cell acute lymphoblastic leukemia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CLOVE syndrome
Cowden syndrome
Familial isolated dilated cardiomyopathy
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Muscular dystrophy, Selcen type
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
MALT lymphoma
Synonym(s):
- HIGM3
- Hyper-IgM syndrome due to CD40 deficiency
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
CD40 P25942109535
No signs/symptoms info available.