BCKDKD
MCID: BRN135
MIFTS: 24

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency (BCKDKD)

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

Aliases & Classifications for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

MalaCards integrated aliases for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

Name: Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 57 12 29 6 15
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency 57 75 37 13 40 73
Bckdkd 57 12 75
Autism-Epilepsy Syndrome Due to Branched Chain Ketoacid Dehydrogenase Kinase Deficiency 12 59
Bckdk Deficiency 57 12
Brain Diseases, Metabolic, Inborn 44

Characteristics:

Orphanet epidemiological data:

59
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 57 614923
Disease Ontology 12 DOID:0090126
ICD10 33 E71.1
Orphanet 59 ORPHA308410
ICD10 via Orphanet 34 E71.1
KEGG 37 H02136
UMLS 73 C3554078

Summaries for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Disease Ontology : 12 An autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11.

MalaCards based summary : Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, is also known as branched-chain ketoacid dehydrogenase kinase deficiency. An important gene associated with Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency is BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Branched-chain ketoacid dehydrogenase kinase deficiency: A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.

Description from OMIM: 614923

Related Diseases for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Symptoms & Phenotypes for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Clinical features from OMIM:

614923

Human phenotypes related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 obligate (100%) HP:0001249
2 seizures 32 obligate (100%) HP:0001250
3 autism 32 obligate (100%) HP:0000717
4 abnormality of branched chain family amino acid metabolism 32 obligate (100%) HP:0010892

MGI Mouse Phenotypes related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 BCKDK MFN2

Drugs & Therapeutics for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Cochrane evidence based reviews: brain diseases, metabolic, inborn

Genetic Tests for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Genetic tests related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

# Genetic test Affiliating Genes
1 Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency 29 BCKDK

Anatomical Context for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

MalaCards organs/tissues related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

41
Brain

Publications for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 BCKDK p.Arg224Pro VAR_069037 rs147210405
2 BCKDK p.Arg174Gly VAR_072184
3 BCKDK p.Leu389Pro VAR_072185

ClinVar genetic disease variations for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCKDK NM_005881.3(BCKDK): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs397514573 GRCh37 Chromosome 16, 31121568: 31121568
2 BCKDK NM_005881.3(BCKDK): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs397514573 GRCh38 Chromosome 16, 31110247: 31110247
3 BCKDK NM_005881.3c.222delG deletion Pathogenic
4 BCKDK NM_005881.3(BCKDK): c.671G> C (p.Arg224Pro) single nucleotide variant Pathogenic rs147210405 GRCh37 Chromosome 16, 31122037: 31122037
5 BCKDK NM_005881.3(BCKDK): c.671G> C (p.Arg224Pro) single nucleotide variant Pathogenic rs147210405 GRCh38 Chromosome 16, 31110716: 31110716
6 BCKDK NM_005881.3(BCKDK): c.1066A> T (p.Ser356Cys) single nucleotide variant Uncertain significance rs142542453 GRCh37 Chromosome 16, 31123320: 31123320
7 BCKDK NM_005881.3(BCKDK): c.1066A> T (p.Ser356Cys) single nucleotide variant Uncertain significance rs142542453 GRCh38 Chromosome 16, 31111999: 31111999
8 BCKDK NM_005881.3(BCKDK): c.453C> G (p.Tyr151Ter) single nucleotide variant Likely pathogenic rs369521689 GRCh37 Chromosome 16, 31121555: 31121555
9 BCKDK NM_005881.3(BCKDK): c.453C> G (p.Tyr151Ter) single nucleotide variant Likely pathogenic rs369521689 GRCh38 Chromosome 16, 31110234: 31110234

Expression for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Search GEO for disease gene expression data for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency.

Pathways for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

GO Terms for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Cellular components related to Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 BCKDK MFN2

Sources for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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