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.
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
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
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
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
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
Search interest in MT-CYB
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 United States.
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 United States.
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 United States.
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 United States.
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 Argentina.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
Mitochondrial encephalomyopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-CYB gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Mitochondrial encephalomyopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-CYB gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Austria.
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 Slovakia.
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 Spain.
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 United States.
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 Spain.
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 Spain.
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