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CANDLE syndrome
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
JMP syndrome
Nakajo-Nishimura syndrome
Immunodeficiency by defective expression of HLA class 1
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Young adult-onset Parkinsonism
Synonym(s):
- Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PSMB8 P28062177046
No signs/symptoms info available.