CISD2, CDGSH iron sulfur domain 2, 493856

N. diseases: 106; N. variants: 4
Disease: Wolfram Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease BEFREE In the present study, we aimed to determine the role of WFS2 in a group of Iranian WS families. 31309279 2020
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease BEFREE WFS1 and CISD2 are two main causing genes of WFS. 31391115 2019
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE Two types of WS are characterized so far and Wolfram syndrome type 2 is due to mutation in CISD2, a protein mostly expressed in MAMs. 29511163 2018
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE The frequent form of WFS type 1 (WFS1) harbors causative mutations in the WFS1 gene, whereas the rare form or WFS type 2 (WFS2) involves CISD2. 29239282 2018
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). 29277467 2018
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a Moroccan patient with an overlapping phenotype suggesting that Wolfram syndrome type 1 and type 2 form a continuous clinical spectrum with genetic heterogeneity. 28335035 2017
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. 29237418 2017
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE Here, we report on a novel homozygous CISD2 mutation (c.215A > G; p.Asn72Ser) in a Moroccan patient with an overlapping phenotype suggesting that Wolfram syndrome type 1 and type 2 form a continuous clinical spectrum with genetic heterogeneity. 28335035 2017
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 25371195 2015
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN However, it remains a mystery as to how the loss of CISD2 causes metabolic defects in patients with WFS. 24833725 2014
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. 25056293 2014
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. 25056293 2014
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease BEFREE Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. 22790102 2012
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice. 19451219 2009
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease LHGDN A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). 17846994 2007
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease CLINGEN A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). 17846994 2007
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). 17846994 2007
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GeneticVariation disease BEFREE The same phenotypic variant turned out to be a genotypic variant with linkage to a second Wolfram syndrome locus (WFS2) on chromosome 4q22-24. 12116178 2002
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker disease BEFREE Bleeding diathesis is a new additional feature to the clinical spectrum of WS, which is probably a feature of the disorder WFS2 and not WFS1, as bleeding has never been reported in the latter. 11317648 2001
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 GermlineCausalMutation disease ORPHANET