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.
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
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.
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
Search interest in CISD2
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 United States.
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 Portugal.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
Wolfram Syndrome - CISD2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CISD2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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 United States.
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 United States.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
CISD2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CISD2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
Wolfram syndrome type 2 Panel
Spain.
By Bioarray
This panel specifically test the CISD2 gene.
More info about this panel Spain.
WOLFRAM SYNDROME TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CISD2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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