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.

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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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


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

More info about this panel

CYB5R3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CYB5R3 gene.

More info about this panel

Hereditary Hemolytic Anemia Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA

More info about this panel

CYB5R3 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CYB5R3 gene.

More info about this panel

Methemoglobinemia (sequence analysis of CYB5R3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYB5R3 gene.

More info about this panel

Methemoglobinemia (sequence analysis of CYB5R3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYB5R3 gene.

More info about this panel

Congenital Methemoglobinemia via CYB5R3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CYB5R3 gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Methemoglobinemia type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYB5R3 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

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

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

CYB5R3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYB5R3 gene.

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital Methemoglobinemia Types I and II , Sequencing CYB5R3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYB5R3 gene.

More info about this panel

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

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYB5R3 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like APTX CEP85L ETV6 TBX4 HCN1 CACNA1D

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more