PDHBD
MCID: PYR012
MIFTS: 19

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD) malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

Aliases & Descriptions for Pyruvate Dehydrogenase E1-Beta Deficiency:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 54 24 56 66 29 13 69
Pdhbd 56 66
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 56
Pyruvate Dehydrogenase Complex Deficiency Disease 69
Pyruvate Dehydrogenase E1 B Deficiency 24
Pyruvate Dehydrogenase Deficiency 66
Pdh Deficiency 66

Characteristics:

Orphanet epidemiological data:

56
pyruvate dehydrogenase e1-beta deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

HPO:

32
pyruvate dehydrogenase e1-beta deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614111
Orphanet 56 ORPHA255138
ICD10 via Orphanet 34 E74.4
MeSH 42 D015325

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot : 66 Pyruvate dehydrogenase E1-beta deficiency: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

MalaCards based summary : Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency, and has symptoms including lactic acidosis and generalized hypotonia. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase (Lipoamide) Beta).

Description from OMIM: 614111

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

Diseases related to Pyruvate Dehydrogenase E1-Beta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 10.9

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Beta Deficiency

Clinical features from OMIM:

614111

Human phenotypes related to Pyruvate Dehydrogenase E1-Beta Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 lactic acidosis 32 HP:0003128
2 generalized hypotonia 32 HP:0001290

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

Search Clinical Trials , NIH Clinical Center for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic tests related to Pyruvate Dehydrogenase E1-Beta Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Beta Deficiency 29 24 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 PDHB p.Pro344Ser VAR_021058 rs28933391
2 PDHB p.Tyr132Cys VAR_030954 rs28935769

ClinVar genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDHB NM_000925.3(PDHB): c.395A> G (p.Tyr132Cys) single nucleotide variant Pathogenic rs28935769 GRCh37 Chromosome 3, 58416578: 58416578
2 PDHB NM_000925.3(PDHB): c.1030C> T (p.Pro344Ser) single nucleotide variant Pathogenic rs28933391 GRCh37 Chromosome 3, 58413811: 58413811

Expression for Pyruvate Dehydrogenase E1-Beta Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Beta Deficiency.

Pathways for Pyruvate Dehydrogenase E1-Beta Deficiency

GO Terms for Pyruvate Dehydrogenase E1-Beta Deficiency

Sources for Pyruvate Dehydrogenase E1-Beta 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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