MCID: LCT017
MIFTS: 21

Lactate Dehydrogenase B Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

About this section

Aliases & Descriptions for Lactate Dehydrogenase B Deficiency:

Name: Lactate Dehydrogenase B Deficiency 50 46 23 52 68 66
Lactate Dehydrogenase Deficiency Type B 46 25
Ldhbd 46 68
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 52
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 52
 
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 52
Lactate Dehydrogenase-B Deficiency 12
Ldh-H Subunit Deficiency 52
Lactate Dehydrogenase B 12
Ldh Deficiency B 46

Characteristics:

Orphanet epidemiological data:

52
lactate dehydrogenase b deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult

Classifications:



External Ids:

OMIM50 614128
Orphanet52 ORPHA284435
ICD10 via Orphanet29 E74.0

Summaries for Lactate Dehydrogenase B Deficiency

About this section
NIH Rare Diseases:46 Lactate dehydrogenase b deficiency (ldhbd) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. unlike people with lactate dehydrogenase a deficiency, people with this condition typically do not have any signs or symptoms. it is unclear why this condition does not cause any health problems. affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. ldhbd is caused by mutations in the ldhb gene and is inherited in an autosomal recessive manner. last updated: 12/16/2014

MalaCards based summary: Lactate Dehydrogenase B Deficiency, also known as lactate dehydrogenase deficiency type b, is related to lactate dehydrogenase deficiency, and has symptoms including lactate dehydrogenase b deficiency An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). Affiliated tissues include testes.

UniProtKB/Swiss-Prot:68 Lactate dehydrogenase B deficiency: A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.

Description from OMIM:50 614128

Related Diseases for Lactate Dehydrogenase B Deficiency

About this section

Diseases related to Lactate Dehydrogenase B Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.5

Symptoms for Lactate Dehydrogenase B Deficiency

About this section


Clinical features from OMIM:

614128

HPO human phenotypes related to Lactate Dehydrogenase B Deficiency:

id Description Frequency HPO Source Accession
1 lactate dehydrogenase b deficiency HP:0045041

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

About this section

Drugs for Lactate Dehydrogenase B Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1pyruvateNutraceuticalPhase 334

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Not yet recruitingNCT02616484Phase 3

Search NIH Clinical Center for Lactate Dehydrogenase B Deficiency

Genetic Tests for Lactate Dehydrogenase B Deficiency

About this section

Genetic tests related to Lactate Dehydrogenase B Deficiency:

id Genetic test Affiliating Genes
1 Lactate Dehydrogenase B Deficiency25 23 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

About this section

MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

34
Testes

Animal Models for Lactate Dehydrogenase B Deficiency or affiliated genes

About this section

Publications for Lactate Dehydrogenase B Deficiency

About this section

Variations for Lactate Dehydrogenase B Deficiency

About this section

UniProtKB/Swiss-Prot genetic disease variations for Lactate Dehydrogenase B Deficiency:

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1LDHBp.Lys7GluVAR_004173rs118203897
2LDHBp.Ala35GluVAR_004174
3LDHBp.Ser129ArgVAR_004175rs118203896
4LDHBp.Phe171ValVAR_004176
5LDHBp.Arg172HisVAR_004177rs118203895
6LDHBp.Met175LeuVAR_004178
7LDHBp.Asp322ValVAR_004179
8LDHBp.Gly69GluVAR_011634
9LDHBp.Arg107TrpVAR_011635rs777954556
10LDHBp.Arg172ProVAR_011636
11LDHBp.Trp325ArgVAR_011638rs267607212

Expression for genes affiliated with Lactate Dehydrogenase B Deficiency

About this section
Search GEO for disease gene expression data for Lactate Dehydrogenase B Deficiency.

Pathways for genes affiliated with Lactate Dehydrogenase B Deficiency

About this section

GO Terms for genes affiliated with Lactate Dehydrogenase B Deficiency

About this section

Sources for Lactate Dehydrogenase B Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet