COX6B1 gene related symptoms and diseases

All the information presented here about the COX6B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to COX6B1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Aminoaciduria	Very Common - Between 80% and 100% cases
Hypercalciuria	Very Common - Between 80% and 100% cases
Poor suck	Very Common - Between 80% and 100% cases
Poor head control	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COX6B1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Hyperammonemia
Tachypnea
Leukoencephalopathy
Respiratory insufficiency due to muscle weakness
Severe muscular hypotonia
Exercise intolerance
Congenital hip dislocation
Polydipsia

And 88 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COX6B1 gene

Here you will find a list of rare diseases related to the COX6B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Alternate names

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency, cox deficiency, isolated cox deficiency, cytochrome c oxidase deficiency

Description

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

Most common symptoms of ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

SOURCES: OMIM ORPHANET

Search interest in COX6B1

Potential gene panels for COX6B1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

COX6B1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to COX6B1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to COX6B1 gene

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Alternate names

Description

Most common symptoms of ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Search interest in COX6B1

Potential gene panels for COX6B1 gene

MitoMet®Plus aCGH Analysis Panel

COX6B1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

COX6B1 Deletion/Duplication Analysis Panel

COX6B1 Sequence Analysis Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Respiratory Chain Deficiency Panel

Ataxia Exome Panel Panel

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

Cytochrome C oxidase deficiency (sequence analysis of COX6B1 gene) Panel

Mitochondrial Complex IV Deficiency via COX6B1 Gene Sequencing with CNV Detection Panel

Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

Hypertrophic cardiomyopathy - different panels Panel

Hereditary kidney disorders - different panels Panel

Complex IV Defect Panel

Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) Panel

Leigh Syndrome (nuclear DNA mutation) Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

Cytochrome c oxidase deficiency Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Cardiovascular Diseases_General Panel Panel

Arrhythmia General Panel Panel

Hypertrophic cardiomyopathy extended panel Panel

Cardiomyopathies General Panel Panel

Mitochondrial respiratory chain complex II, III, and IV deficiency Panel

Mitochondrial complex IV deficiency Panel

Mitochondrial Diseases: Sequencing Panel Panel

Lactic Acidosis-Pyruvate NGS Panel Panel

Nuclear-Mito NGS Panel Panel

COX6B1 Panel

Epileptic Encephalopathy Panel Panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel