MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:11780
Name:Wolfram Syndrome 2
Definition:
Alternative IDs:OMIM:604928
ParentIDs:MESH:D006319|MESH:D009896|MESH:D019588|MESH:D028361
TreeNumbers:C09.218.458.341.887/C565733 |C10.292.700.225/C565733 |C10.597.751.418.341.887/C565733 |C11.640.451/C565733 |C18.452.660/C565733 |C23.888.069/C565733 |C23.888.592.763.393.341.887/C565733
Synonyms:WFS2
Slim Mappings:Ear-nose-throat disease|Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565733
MeSH: C565733
OMIM: 604928;
MSeqDR LSDB: 00490;  
Genes: CISD2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001892Abnormal bleeding
3 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
4 HP:0002592Gastric ulcerOccasional
5 HP:0008320Impaired collagen-induced platelet aggregation
6 HP:0000648Optic atrophy
7 HP:0001138Optic neuropathy
NAMDC:  Optic neuropathy
8 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001008388.4(CISD2):c.109G>C (p.Glu37Gln)-1-Pathogenic63749888RCV000000940; NMedGen:C1858028,OMIM:6049284103806378103806378NM_001008388.4:c.109G>CNP_001008389.1:p.Glu37GlnNC_000004.11:g.103806378G>COMIM Allelic Variant:611507.0001C1858028 604928 Wolfram syndrome 2
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000145354 MSeqDR Search EnsemblCISD2100CDGSH iron sulfur domain 2 [Source:HGNC Symbol;Acc:24212]00490

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