LDHB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LDHB gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Renal insufficiency Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Reticulocytosis Very Common - Between 80% and 100% cases
Myoglobinuria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Reduced lactate dehydrogenase B level
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Rare diseases associated to LDHB gene

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


GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY Is also known as ldh-h subunit deficiency, lactate dehydrogenase b deficiency, glycogenosis due to lactate dehydrogenase h-subunit deficiency, gsd due to lactate dehydrogenase h-subunit deficiency

Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY

  • Anemia
  • Renal insufficiency
  • Hemolytic anemia
  • Reticulocytosis
  • Myoglobinuria


More info about GLYCOGEN STORAGE DISEASE DUE TO LACTATE DEHYDROGENASE H-SUBUNIT DEFICIENCY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for LDHB 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

Lactate dehydrogenase-B deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LDHB gene.

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

LDHB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LDHB gene.

More info about this panel


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