LDHBD
MCID: LCT017
MIFTS: 21

Lactate Dehydrogenase B Deficiency (LDHBD) malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Lactate Dehydrogenase B Deficiency

Aliases & Descriptions for Lactate Dehydrogenase B Deficiency:

Name: Lactate Dehydrogenase B Deficiency 54 50 24 56 66 69
Lactate Dehydrogenase Deficiency Type B 50 29
Ldhbd 50 66
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency 56
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency 56
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency 56
Lactate Dehydrogenase-B Deficiency 13
Ldh-H Subunit Deficiency 56
Lactate Dehydrogenase B 13
Ldh Deficiency B 50

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to lactate dehydrogenase h-subunit deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 614128
Orphanet 56 ORPHA284435
ICD10 via Orphanet 34 E74.0

Summaries for Lactate Dehydrogenase B Deficiency

NIH Rare Diseases : 50 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. An important gene associated with Lactate Dehydrogenase B Deficiency is LDHB (Lactate Dehydrogenase B). The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 66 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: 614128

Related Diseases for Lactate Dehydrogenase B Deficiency

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

id Related Disease Score Top Affiliating Genes
1 lactate dehydrogenase deficiency 11.3

Symptoms & Phenotypes for Lactate Dehydrogenase B Deficiency

Clinical features from OMIM:

614128

Human phenotypes related to Lactate Dehydrogenase B Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 lactate dehydrogenase b deficiency 32 HP:0045041

Drugs & Therapeutics for Lactate Dehydrogenase B Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pyruvate Approved, Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Not yet recruiting NCT02616484 Phase 3

Search NIH Clinical Center for Lactate Dehydrogenase B Deficiency

Genetic Tests for Lactate Dehydrogenase B Deficiency

Genetic tests related to Lactate Dehydrogenase B Deficiency:

id Genetic test Affiliating Genes
1 Lactate Dehydrogenase B Deficiency 29 24 LDHB

Anatomical Context for Lactate Dehydrogenase B Deficiency

MalaCards organs/tissues related to Lactate Dehydrogenase B Deficiency:

39
Testes

Publications for Lactate Dehydrogenase B Deficiency

Variations for Lactate Dehydrogenase B Deficiency

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 LDHB p.Lys7Glu VAR_004173 rs118203897
2 LDHB p.Ala35Glu VAR_004174
3 LDHB p.Ser129Arg VAR_004175 rs118203896
4 LDHB p.Phe171Val VAR_004176
5 LDHB p.Arg172His VAR_004177 rs118203895
6 LDHB p.Met175Leu VAR_004178
7 LDHB p.Asp322Val VAR_004179
8 LDHB p.Gly69Glu VAR_011634
9 LDHB p.Arg107Trp VAR_011635 rs777954556
10 LDHB p.Arg172Pro VAR_011636
11 LDHB p.Trp325Arg VAR_011638 rs267607212

Expression for Lactate Dehydrogenase B Deficiency

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

Pathways for Lactate Dehydrogenase B Deficiency

GO Terms for Lactate Dehydrogenase B Deficiency

Sources for Lactate Dehydrogenase B Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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