Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency

Description

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Spasticity

And another 31 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

Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis, coxpd10, combined oxidative phosphorylation defect type 10.

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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Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency 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 %
Comprehensive Cardiac Panel.

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

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RIT1, MRPL3, RRAS, SLC22A5, BRAF, SOS1, SOS2, SURF1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, ACTA1, GFM1, ACTC1, MRPS22, BSCL2, LIAS , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Newborn: Cardiomyopathy as presenting sign.

By MGZ Medical Genetics Center (Germany).

SCO2, SDHA, SLC22A5, SLC25A3, TAZ, TTN, LPIN1, GFM1, SLC25A20, MTO1, AARS, ACAD9, AGK, COX15, CPT1A, CPT2, TMEM70, GAA, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center (Germany).

SUCLA2, SUCLG1, TK2, TSFM, TUFM, GFM1, MRPS16, MRPS22, PUS1, LRPPRC, RRM2B, SARS2, MTO1, AARS2, FARS2, RMND1, RARS2, YARS2, TACO1, MARS2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Combined Oxidative Phosphorylation Deficiency 10.

By MGZ Medical Genetics Center (Germany).

MTO1
Specificity
100 %
Genes
100 %
Mitochondrial Cardiomyopathy - Sanger.

By MGZ Medical Genetics Center (Germany).

SCO2, SLC25A3, MTO1, AARS2, ACAD9, AGK, COX15, TMEM70, MT-TL1
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD HYPOMAGNESEMIA 2, RENAL; HOMG2 BARDET-BIEDL SYNDROME 21; BBS21 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP

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