Macular Dystrophy With Central Cone Involvement; Ccmd

Clinical Features

Phenotypes and symptoms related to Macular Dystrophy With Central Cone Involvement; Ccmd

  • Seizures
  • Reduced visual acuity
  • Abnormality of skin pigmentation
  • Optic disc pallor
  • Cone/cone-rod dystrophy
  • Macular dystrophy
  • Scotoma
  • Central scotoma
  • Retinal atrophy
  • Bull's eye maculopathy

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.

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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Macular Dystrophy With Central Cone Involvement; Ccmd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.

By Athena Diagnostics Inc (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, CTSD, CTSF, MFSD8, ATP13A2, GRN, PPT1
Specificity
8 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Neuronal Ceroid Lipofuscinosis Panel.

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

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1
Specificity
12 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

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

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Macular Degeneration Panel.

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

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Test for MFSD8-Related Neuronal Ceroid-Lipofuscinosis.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

MFSD8
Specificity
100 %
Genes
100 %
NCL Panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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