WFS1
MCID: WLF013
MIFTS: 60
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Wolfram Syndrome 1 (WFS1)
Categories:
Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Wolfram Syndrome 1:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Blood diseases
ICD10:
32
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OMIM :
56
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).
Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (600965) as well as a Wolfram syndrome-like phenotype (614296) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy.
(222300)
MalaCards based summary : Wolfram Syndrome 1, also known as diabetes mellitus and insipidus with optic atrophy and deafness, is related to early-onset nuclear cataract and rare diabetes mellitus type 2, and has symptoms including seizures, ataxia and tremor. An important gene associated with Wolfram Syndrome 1 is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Metabolism of proteins and Parkinson disease. The drugs Acetylcysteine and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreatic islet and testes, and related phenotypes are intellectual disability and behavioral abnormality Disease Ontology : 12 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. UniProtKB/Swiss-Prot : 73 Wolfram syndrome 1: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. |
Human phenotypes related to Wolfram Syndrome 1:31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:222300UMLS symptoms related to Wolfram Syndrome 1:seizures, ataxia, tremor MGI Mouse Phenotypes related to Wolfram Syndrome 1:45 (show all 11)
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Drugs for Wolfram Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 36)
Interventional clinical trials:(show all 11)
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MalaCards organs/tissues related to Wolfram Syndrome 1:40
Brain,
Pancreatic Islet,
Testes,
Kidney,
Hypothalamus,
Cortex,
Heart
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Articles related to Wolfram Syndrome 1:(show top 50) (show all 475)
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ClinVar genetic disease variations for Wolfram Syndrome 1:6 (show top 50) (show all 53)
UniProtKB/Swiss-Prot genetic disease variations for Wolfram Syndrome 1:73 (show all 22)
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Search
GEO
for disease gene expression data for Wolfram Syndrome 1.
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Pathways related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:(show all 27)
Molecular functions related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:
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