MT-CYB gene related symptoms and diseases

All the information presented here about the MT-CYB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-CYB gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Wolff-Parkinson-White syndrome Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MT-CYB gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Seizures
  • Blindness
  • Cardiomyopathy
  • Arrhythmia
  • Global developmental delay
  • Depressivity
  • Ataxia
  • Visual loss

And 392 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-CYB gene

Here you will find a list of rare diseases related to the MT-CYB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MELAS


Alternate names

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Description

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

Most common symptoms of MELAS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MELAS

SOURCES: ORPHANET OMIM MESH

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Description

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Most common symptoms of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

SOURCES: MESH OMIM

LEBER HEREDITARY OPTIC NEUROPATHY


Alternate names

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy, lhon, leber hereditary optic neuropathy

Description

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

Most common symptoms of LEBER HEREDITARY OPTIC NEUROPATHY

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


More info about LEBER HEREDITARY OPTIC NEUROPATHY

SOURCES: OMIM ORPHANET

ISOLATED COMPLEX III DEFICIENCY


Alternate names

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency, isolated ubiquinone-cytochrome c reductase deficiency, isolated mitochondrial respiratory chain complex iii deficiency, isolated coenzyme q-cytochrome c reductase deficiency

Description

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

Most common symptoms of ISOLATED COMPLEX III DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ISOLATED COMPLEX III DEFICIENCY

SOURCES: ORPHANET OMIM

HISTIOCYTOID CARDIOMYOPATHY


Alternate names

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy, infantile cardiomyopathy with histiocytoid change, infantile xanthomatous cardiomyopathy, cardiomyopathy, oncocytic, cardiomyopathy, infantile xanthomatous, oncocytic cardiomyopathy, cardiomyopathy, focal lipid

Description

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

Most common symptoms of HISTIOCYTOID CARDIOMYOPATHY

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


More info about HISTIOCYTOID CARDIOMYOPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for MT-CYB gene

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1

More info about this panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1

More info about this panel

Mitochondrial diseases Panel

United States.

By Center for Human Genetics, Inc Mitochondrial diseases that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Mitochondrial Genome Sequence Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Mitochondrial Genome Sequence that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

More info about this panel

Mitochondrial Disorders (mtDNA) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders (mtDNA) Sequencing that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND4L MT-ND5 MT-RNR2 MT-TA

More info about this panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Leber congenital neuropathy (sequence analysis of MTCYB) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-CYB gene.

More info about this panel

Infantile histiocytoid cardiomyopathy (sequence analysis of MTCYB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-CYB gene.

More info about this panel

Infantile histiocytoid cardiomyopathy (sequence analysis of MTCYB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-CYB gene.

More info about this panel

Mitochondrial Respiratory Chain Complex III, Cytochrome b Subunit Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-CYB gene.

More info about this panel

MT-CYB-Related Recurrent Myoglobinuria Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-CYB gene.

More info about this panel

Mitochondrial encephalomyopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-CYB gene.

More info about this panel

Leber congenital neuropathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-CYB gene.

More info about this panel

Mitochondrial genome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Mitochondrial genome panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

More info about this panel

Mitochondrial encephalomyopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-CYB gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

mtDNA encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH mtDNA encoded Mitochondriopathies Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

More info about this panel

Leber Optic Atrophie Panel

Austria.

By Praxis fuer Humangenetik Wien Leber Optic Atrophie that also includes the following genes: MT-CYB MT-ND1 MT-ND4 MT-ND6

More info about this panel

Leber Optic Atrophie Panel

Slovakia.

By MedGene Leber Optic Atrophie that also includes the following genes: MT-CYB MT-ND1 MT-ND4 MT-ND6

More info about this panel

Leber's hereditary optic neuropathy: Mutations analysis (T4216C, G13708A and G15257A) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber's hereditary optic neuropathy: Mutations analysis (T4216C, G13708A and G15257A) that also includes the following genes: MT-CYB MT-ND1 MT-ND5

More info about this panel

Mitochondrial Genome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Mitochondrial Genome NGS Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5

More info about this panel

LEBER HEREDITARY OPTIC NEUROPATHY (LHON) Panel

Spain.

By Laboratorio de Genetica Clinica SL LEBER HEREDITARY OPTIC NEUROPATHY (LHON) that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND5

More info about this panel

MITOCHONDRIAL COMPLEX 3 DEFICIENCY (UBIQUINONE-CYTOCHROME C OXIDASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 3 DEFICIENCY (UBIQUINONE-CYTOCHROME C OXIDASE) that also includes the following genes: BCS1L UQCRB TTC19 UQCRQ MT-CYB

More info about this panel


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