Retinitis Pigmentosa 46; Rp46

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 46; Rp46

  • Visual impairment
  • Rod-cone dystrophy
  • Optic disc pallor
  • Abnormality of retinal pigmentation
  • Abnormality of mitochondrial metabolism
  • Constriction of peripheral visual field
  • Attenuation of retinal blood vessels
  • Decreased light- and dark-adapted electroretinogram amplitude

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Retinitis Pigmentosa 46; Rp46 Is also known as retinitis pigmentosa, autosomal recessive, idh3b-related.

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.

Retinitis Pigmentosa 46; Rp46 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
IDH3B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IDH3B
Specificity
100 %
Genes
100 %
IDH3B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IDH3B
Specificity
100 %
Genes
100 %
IDH3B Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IDH3B
Specificity
100 %
Genes
100 %
IDH3B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IDH3B
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
IDH3B.

By Institute for Human Genetics University Clinic Freiburg (Germany).

IDH3B
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 33 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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