Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome

Description

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Cataract

And another 55 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

Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome Is also known as mtdps10, sengers syndrome, cardiomyopathy and cataract, mitochondrial dna depletion syndrome 10 (cardiomyopathic type).

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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Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome 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 %
SLC25A4 (ANT1) Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
50 %
SLC25A4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
50 %
SLC25A4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
50 %
SLC25A4 (ANT1) Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4
Specificity
100 %
Genes
50 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
50 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
50 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
50 %

We have 86 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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