Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Genes related to Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
- PRPS1
Clinical Features
Top most frequent phenotypes and symptoms related to Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
- Hearing impairment
- Scoliosis
- Ataxia
- Muscle weakness
- Visual impairment
- Dysarthria
- Skeletal muscle atrophy
- Optic atrophy
- Tremor
- Gait disturbance
And another 28 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including juvenile onset, and juvenile onset .
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
Hearing Loss Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
1 %
Genes
100 % |
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
Specificity
1 %
Genes
100 % |
NGS Hearing Loss Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)
View the complete list with 70 more genes
Specificity
2 %
Genes
100 % |
Charcot-Marie-Tooth Hereditary Neuropathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
OtoSCOPE.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).
ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)
View the complete list with 130 more genes
Specificity
1 %
Genes
100 % |
Hearing Loss Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)
View the complete list with 100 more genes
Specificity
1 %
Genes
100 % |
Charcot-Marie-Tooth Syndrome.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8 , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
You can get up to 93 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH
Hearing Loss Advanced Sequencing and CNV Evaluation.