CYB5R3 gene related symptoms and diseases

All the information presented here about the CYB5R3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, 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 CYB5R3 gene

Symptoms // Phenotype	% Cases
Polycythemia	Common - Between 50% and 80% cases
Cardiomyopathy	Common - Between 50% and 80% cases
Methemoglobinemia	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Exertional dyspnea	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CYB5R3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Opisthotonus
Hepatic failure
Lactic acidosis
Elevated hepatic transaminase
Hypoglycemia
Hypertonia
Vomiting
Lethargy

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CYB5R3 gene

Here you will find a list of rare diseases related to the CYB5R3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

HEREDITARY METHEMOGLOBINEMIA

Alternate names

HEREDITARY METHEMOGLOBINEMIA Is also known as autosomal recessive methemoglobinemia, congenital methemoglobinemia

Description

Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2, see these terms).

More info about HEREDITARY METHEMOGLOBINEMIA

SOURCES: ORPHANET

PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Alternate names

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease, nadh-cytochrome b5 reductase deficiency, dihydrolipoamide dehydrogenase deficiency, nadh-dependent methemoglobin reductase deficiency, methemoglobinemia, congenital, autosomal recessive, dld deficiency

Description

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

Most common symptoms of PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

SOURCES: OMIM ORPHANET

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Alternate names

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii, e3 deficiency, lipoamide dehydrogenase deficiency, lactic acidosis due to, dld deficiency

Description

DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).

Most common symptoms of DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment
Microcephaly

More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

SOURCES: OMIM

Search interest in CYB5R3

Potential gene panels for CYB5R3 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

CYB5R3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CYB5R3 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CYB5R3 gene

HEREDITARY METHEMOGLOBINEMIA

Alternate names

Description

PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Alternate names

Description

Most common symptoms of PYRUVATE DEHYDROGENASE E3 DEFICIENCY

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Alternate names

Description

Most common symptoms of DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD

Search interest in CYB5R3

Potential gene panels for CYB5R3 gene

MitoMet®Plus aCGH Analysis Panel

CYB5R3 Sequencing Panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

CYB5R3 mutation analysis Panel

Methemoglobinemia (sequence analysis of CYB5R3 gene) Panel

Methemoglobinemia (sequence analysis of CYB5R3 gene) Panel

Congenital Methemoglobinemia via CYB5R3 Gene Sequencing with CNV Detection Panel

Mental retardation - different panels Panel

Methemoglobinemia type 1 Panel

Nuclear encoded Mitochondriopathies Panel Panel

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

Intellectual Disability NGS Panel Panel

Nuclear-Mito NGS Panel Panel

CYB5R3 Panel

Comprehensive Hematology Panel Panel

Anemia Panel Panel

Congenital Methemoglobinemia Types I and II , Sequencing CYB5R3 Gene Panel

Congenital Methemoglobinemia Types I and II , Deletions-Duplications (MLPA) CYB5R3 Gene Panel