Choroideremia; Chm

Description

Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014).See also choroideremia, deafness, and mental retardation (OMIM ), a contiguous gene deletion syndrome involving the CHM and POU3F4 (OMIM ) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2 ) is also caused by mutation in the CHM gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Choroideremia; Chm

  • Pica
  • Cataract
  • Visual impairment
  • Myopia
  • Tics
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Visual loss
  • Abnormality of the eye
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Choroideremia; Chm have a estimated prevalence of 2 per 100k worldwide.


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Choroideremia; Chm Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

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

By Institute for Human Genetics University Clinic Freiburg in Germany.

CHM
Specificity
100 %
Genes
100 %
CHM Gene Sequencing.

By GeneDx in United States.

CHM
Specificity
100 %
Genes
100 %
CHM Gene Sequencing.

By GeneDx in United States.

CHM
Specificity
100 %
Genes
100 %
Choroideremia, X-Linked.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

CHM
Specificity
100 %
Genes
100 %
CHM. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHM
Specificity
100 %
Genes
100 %
CHM. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHM
Specificity
100 %
Genes
100 %
Choroideremia (sequence analysis of CHM gene).

By CGC Genetics in Portugal.

CHM
Specificity
100 %
Genes
100 %
Choroideremia (deletion/duplication analysis on CHM, RPGR and RP2 gene).

By CGC Genetics in Portugal.

CHM
Specificity
100 %
Genes
100 %
Choroideremia (deletion/duplication analysis on CHM, RPGR and RP2 gene).

By CGC Genetics in Portugal.

CHM
Specificity
100 %
Genes
100 %
Choroideremia, founder mutation.

By Laboratory of Genetics HUSLAB in Finland.

CHM
Specificity
100 %
Genes
100 %
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, RPGR, RP2, OFD1
Specificity
25 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, CACNA1F, SAG, RPE65, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179
Specificity
7 %
Genes
100 %
Flecked Retina Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, LRAT, RDH5, EFEMP1, VPS13B, PLA2G5
Specificity
8 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Choroideremia via CHM Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM
Specificity
100 %
Genes
100 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, CHM, RP1, OTX2, KCNJ13, CEP290, USH2A, TULP1, RPGRIP1, RPE65, RHO, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, PDE6A, CNGA1, PCARE , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Choroidermia.

By Centogene AG - the Rare Disease Company in Germany.

CHM
Specificity
100 %
Genes
100 %
Choroideremia.

By Centogene AG - the Rare Disease Company in Germany.

CHM
Specificity
100 %
Genes
100 %
Flecked Retina Disorders Panel.

By CeGaT GmbH in Germany.

CHM, RLBP1, RS1, RDH5, EFEMP1, VPS13B, PLA2G5
Specificity
15 %
Genes
100 %
Single gene testing CHM.

By CeGaT GmbH in Germany.

CHM
Specificity
100 %
Genes
100 %
Choroideremia.

By Asper Biogene Asper Biogene LLC in Estonia.

CHM
Specificity
100 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
X-Linked RP Panel.

By Molecular Vision Laboratory in United States.

CHM, RPGR, RS1, RP2, OFD1
Specificity
20 %
Genes
100 %
CHM sequencing.

By Molecular Vision Laboratory in United States.

CHM
Specificity
100 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Choroideremia.

By Praxis fuer Humangenetik Wien in Austria.

CHM
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Choroideremia.

By MedGene in Slovakia.

CHM
Specificity
100 %
Genes
100 %
Invitae Choroideremia Test.

By Invitae in United States.

CHM
Specificity
100 %
Genes
100 %
Choroideremia: CHM gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHM
Specificity
100 %
Genes
100 %
Choroideremia: CHM Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CHM
Specificity
100 %
Genes
100 %
Choroideremia: CHM Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CHM
Specificity
100 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
CHM.

By Fulgent Genetics Fulgent Genetics in United States.

CHM
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Flecked Retina Disorders Panel.

By Blueprint Genetics in Finland.

CHM, ELOVL4, ABCA4, PRPH2, RLBP1, RHO, PROM1, RS1, CYP4V2, RDH5, VPS13B, PLA2G5
Specificity
9 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Choroideremia.

By Bioarray in Spain.

CHM
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
CHOROIDEREMIA.

By Laboratorio de Genetica Clinica SL in Spain.

CHM
Specificity
100 %
Genes
100 %
Choroideremia, Sequencing CHM Gene.

By Reference Laboratory Genetics in Spain.

CHM
Specificity
100 %
Genes
100 %
Choroideremia , Deletions-Duplications (MLPA) CHM Gene.

By Reference Laboratory Genetics in Spain.

CHM
Specificity
100 %
Genes
100 %

Alternate names

Choroideremia; Chm Is also known as tapetochoroidal dystrophy, progressive;tcd;chm; tapetochoroidal dystrophy.



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