Gyrate Atrophy Of Choroid And Retina

Description

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

Clinical Features

Top most frequent phenotypes and symptoms related to Gyrate Atrophy Of Choroid And Retina

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Intellectual disability, mild
  • Abnormality of metabolism/homeostasis
  • Visual loss
  • EEG abnormality
  • Proximal muscle weakness

And another 15 symptoms. If you need more information about this disease we can help you.

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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

Gyrate Atrophy Of Choroid And Retina Is also known as ornithine-delta-aminotransferase deficiency, hoga, hyperornithinemia-gyrate atrophy of choroid and retina syndrome, gyrate atrophy, oat deficiency, ornithine aminotransferase deficiency, hyperornithinemia, ornithine keto acid aminotransferase deficiency, okt defi.

Researches and researchers

Doctors, researchs, and experts related to Gyrate Atrophy Of Choroid And Retina extracted from public data.

Gyrate Atrophy Of Choroid And Retina Experts map



Current Researchs and researchers

  • VERONA — Pr Barbara CELLINI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Verona
    • Research area/topic::

      Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6



Mendelian

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Gyrate Atrophy Of Choroid And Retina 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 %
OAT.

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

OAT
Specificity
100 %
Genes
100 %
Hyperammonaemia/Urea cycle disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC25A13, SLC25A15, SLC7A7, NAGS, GLUD1, ARG1, ASL, MMUT, ASS1, OAT, OTC, PCCA, PCCB
Specificity
8 %
Genes
100 %
Gyrate atrophy of choroid and retina with or without ornithinemia (sequence analysis of OAT gene).

By CGC Genetics (Portugal).

OAT
Specificity
100 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC22A5, SLC25A13, SLC25A15, SLC7A7, SLC25A20, NAGS, MMAA, MMAB, CPT1A, CPT2, MMACHC, MMADHC, TMEM70, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Gyrate Atrophy of Choroid and Retina via OAT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

OAT
Specificity
100 %
Genes
100 %
Urea Cycle Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A13, SLC25A15, NAGS, ARG1, ASL, ASS1, OAT, OTC
Specificity
13 %
Genes
100 %

We have 22 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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