Cone-rod Dystrophy 2; Cord2

Description

Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). Genetic Heterogeneity of Autosomal Cone-Rod DystrophyThere are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (OMIM ) is caused by mutation in the ABCA4 gene (OMIM ) on chromosome 1p22. CORD5 (OMIM ) is caused by mutation in the PITPNM3 gene (OMIM ) on chromosome 17p13. CORD6 (OMIM ) is caused by mutation in the GUCY2D gene (OMIM ) on chromosome 17p13.1. CORD7 (OMIM ) is caused by mutation in the RIMS1 gene (OMIM ) on chromosome 6q13. CORD9 (OMIM ) is caused by mutation in the ADAM9 gene (OMIM ) on chromosome 8p11. CORD10 (OMIM ) is caused by mutation in the SEMA4A gene (OMIM ) on chromosome 1q22. CORD11 (OMIM ) is caused by mutation in the RAXL1 gene (OMIM ) on chromosome 19p13. CORD12 (OMIM ) is caused by mutation in the PROM1 gene (OMIM ) on chromosome 4p15. CORD13 (OMIM ) is caused by mutation in the RPGRIP1 gene (OMIM ) on chromosome 14q11. CORD14 (see {602093}) is caused by mutation in the GUCA1A gene (OMIM ) on chromosome 6p21. CORD15 (OMIM ) is caused by mutation in the CDHR1 gene (OMIM ) on chromosome 10q23. CORD16 (OMIM ) is caused by mutation in the C8ORF37 gene (OMIM ) on chromosome 8q22. CORD18 (OMIM ) is caused by mutation in the RAB28 gene (OMIM ) on chromosome 4p15. CORD19 (OMIM ) is caused by mutation in the TTLL5 gene (OMIM ) on chromosome 14q24. CORD20 (OMIM ) is caused by mutation in the POC1B gene (OMIM ) on chromosome 12q21. CORD21 (OMIM ) is caused by mutation in the DRAM2 gene (OMIM ) on chromosome 1p13.A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene ({604392.0004}) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene ({604011.0001}) on chromosome 17q11.2.Other mapped loci for autosomal CORD include CORD1 (OMIM ) on chromosome 18q21.1-q21.3; CORD8 (OMIM ) on chromosome 1q12-q24; and CORD17 (OMIM ) on chromosome 10q26.For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Cone-rod Dystrophy 2; Cord2

  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia
  • Retinal dystrophy
  • Progressive visual loss
  • Cone/cone-rod dystrophy
  • Constriction of peripheral visual field
  • Abnormality of color vision

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Cone-rod Dystrophy 2; Cord2 Is also known as cord, crd, retinal cone-rod dystrophy, crd2, cone-rod dystrophy, rcrd2, cone-rod retinal dystrophy.

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.


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Cone-rod Dystrophy 2; Cord2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
CRX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CRX
Specificity
100 %
Genes
50 %
CRX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CRX
Specificity
100 %
Genes
50 %
CRX Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CRX
Specificity
100 %
Genes
50 %
CRX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CRX
Specificity
100 %
Genes
50 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
50 %
Cone-Rod Dystrophy Panel.

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

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
100 %
Leber Congenital Amaurosis Panel.

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

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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