CANDF6
MCID: CND037
MIFTS: 29
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Candidiasis, Familial, 6 (CANDF6)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Candidiasis, Familial, 6:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Gastrointestinal diseases Immune diseases Blood diseases Skin diseases |
NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus , hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature , eczema, hepatosplenomegaly , delayed puberty, and osteoporosis /osteopenia. Visit the Orphanet disease page for more resources.
MalaCards based summary : Candidiasis, Familial, 6, also known as candidiasis, familial, 6, autosomal dominant, is related to immunodeficiency 31c and candidiasis, familial, 1. An important gene associated with Candidiasis, Familial, 6 is IL17F (Interleukin 17F). Affiliated tissues include skin, heart and thyroid, and related phenotypes are delayed skeletal maturation and short stature UniProtKB/Swiss-Prot : 73 Candidiasis, familial, 6: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. |
Diseases in the Candidiasis family:
Diseases related to Candidiasis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Candidiasis, Familial, 6:31 (show all 39)
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MalaCards organs/tissues related to Candidiasis, Familial, 6:40
Skin,
Heart,
Thyroid
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Articles related to Candidiasis, Familial, 6:
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ClinVar genetic disease variations for Candidiasis, Familial, 6:6 (show all 34)
UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 6:73
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Search
GEO
for disease gene expression data for Candidiasis, Familial, 6.
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