CISD2 gene related symptoms and diseases

All the information presented here about the CISD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CISD2 gene

Symptoms // Phenotype % Cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Diabetes insipidus Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Optic atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CISD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gastric ulcer
  • Intellectual disability
  • Hearing impairment
  • Dilatation
  • Depressivity
  • Abnormality of the urinary system
  • Abnormal bleeding
  • Impaired collagen-induced platelet aggregation

And 87 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CISD2 gene

Here you will find a list of rare diseases related to the CISD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WOLFRAM SYNDROME


Alternate names

WOLFRAM SYNDROME Is also known as didmoad syndrome, diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Description

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

Most common symptoms of WOLFRAM SYNDROME

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


More info about WOLFRAM SYNDROME

SOURCES: ORPHANET OMIM

WOLFRAM SYNDROME 2; WFS2


Description

Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014).For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (OMIM ).

Most common symptoms of WOLFRAM SYNDROME 2; WFS2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Dilatation


More info about WOLFRAM SYNDROME 2; WFS2

SOURCES: OMIM

WOLFRAM SYNDROME 1; WFS1


Alternate names

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness, wfs, didmoad

Description

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 (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

Most common symptoms of WOLFRAM SYNDROME 1; WFS1

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


More info about WOLFRAM SYNDROME 1; WFS1

SOURCES: OMIM


Potential gene panels for CISD2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

Maturity-Onset Diabetes of the Young Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Wolfram syndrome sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Wolfram syndrome sequencing panel that also includes the following genes: WFS1 CISD2

More info about this panel

Wolfram syndrome Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Wolfram syndrome Deletion/Duplication Analysis that also includes the following genes: WFS1 CISD2

More info about this panel

CISD2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CISD2 gene.

More info about this panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Wolfram syndrome type 2 (sequence analysis of CISD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CISD2 gene.

More info about this panel

Wolfram syndrome 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CISD2 gene.

More info about this panel

Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CISD2 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Wolfram Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Wolfram Syndrome Sequencing Panel with CNV Detection that also includes the following genes: WFS1 CISD2

More info about this panel

Optic Atrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65

More info about this panel

Wolfram Syndrome - CISD2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CISD2 gene.

More info about this panel

Wolfram syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CISD2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Wolfram syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CISD2 gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Optic Atrophy Panel Panel

Germany.

By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Optic atrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Optic atrophy that also includes the following genes: SPG7 TIMM8A WFS1 MFN2 CISD2 TMEM126A C12orf65 NDUFS1 OPA1 OPA3

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Wolfram Syndrome Comprehensive NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Wolfram Syndrome Comprehensive NGS Panel that also includes the following genes: WFS1 CISD2

More info about this panel

CISD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CISD2 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Optic Atrophy Panel Panel

Finland.

By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel

Wolfram syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the CISD2 gene.

More info about this panel

WOLFRAM SYNDROME TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CISD2 gene.

More info about this panel

OPTIC ATROPHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65

More info about this panel

Wolfram Syndrome Type 2 , Sequencing CISD2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CISD2 gene.

More info about this panel

Wolfram Syndrome , Panel Massive Sequencing (NGS) CISD2, WFS1 Genes Panel

Spain.

By Reference Laboratory Genetics Wolfram Syndrome , Panel Massive Sequencing (NGS) CISD2, WFS1 Genes that also includes the following genes: WFS1 CISD2

More info about this panel


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