MCID: ATS423
MIFTS: 12

Autosomal Dominant Wolfram Syndrome

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Wolfram Syndrome

MalaCards integrated aliases for Autosomal Dominant Wolfram Syndrome:

Name: Autosomal Dominant Wolfram Syndrome 12 15

Classifications:



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Disease Ontology 12 DOID:0080584

Summaries for Autosomal Dominant Wolfram Syndrome

Disease Ontology : 12 A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has material basis in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.

MalaCards based summary : Autosomal Dominant Wolfram Syndrome is related to bladder exstrophy-epispadias-cloacal exstrophy complex and exstrophy of bladder. An important gene associated with Autosomal Dominant Wolfram Syndrome is CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3).

Related Diseases for Autosomal Dominant Wolfram Syndrome

Diseases in the Wolfram Syndrome family:

Wolfram Syndrome 1 Wolfram Syndrome 2
Wolfram-Like Syndrome, Autosomal Dominant Autosomal Dominant Wolfram Syndrome

Diseases related to Autosomal Dominant Wolfram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 9.7 THAP7 PRPF38A CELSR3
2 exstrophy of bladder 9.7 THAP7 PRPF38A CELSR3
3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.6 SETX ATXN1
4 amyotrophic lateral sclerosis 4, juvenile 9.5 SETX ATXN1
5 cerebellar disease 9.5 SETX ATXN1
6 autosomal dominant cerebellar ataxia 9.5 SETX ATXN1
7 friedreich ataxia 9.4 SETX ATXN1
8 hereditary ataxia 9.2 SETX ATXN1

Graphical network of the top 20 diseases related to Autosomal Dominant Wolfram Syndrome:



Diseases related to Autosomal Dominant Wolfram Syndrome

Symptoms & Phenotypes for Autosomal Dominant Wolfram Syndrome

Drugs & Therapeutics for Autosomal Dominant Wolfram Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Wolfram Syndrome

Genetic Tests for Autosomal Dominant Wolfram Syndrome

Anatomical Context for Autosomal Dominant Wolfram Syndrome

Publications for Autosomal Dominant Wolfram Syndrome

Variations for Autosomal Dominant Wolfram Syndrome

Expression for Autosomal Dominant Wolfram Syndrome

Search GEO for disease gene expression data for Autosomal Dominant Wolfram Syndrome.

Pathways for Autosomal Dominant Wolfram Syndrome

GO Terms for Autosomal Dominant Wolfram Syndrome

Biological processes related to Autosomal Dominant Wolfram Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.8 SETX MAB21L2 ATXN1

Sources for Autosomal Dominant Wolfram Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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