BCKDKD
MCID: BRN135
MIFTS: 21

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 58 12 30 6 15
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency 58 76 38 13 41 74
Bckdkd 58 12 76
Autism-Epilepsy Syndrome Due to Branched Chain Ketoacid Dehydrogenase Kinase Deficiency 12 60
Bckdk Deficiency 58 12
Brain Diseases, Metabolic, Inborn 45

Characteristics:

Orphanet epidemiological data:

60
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Disease Ontology 12 DOID:0090126
OMIM 58 614923
KEGG 38 H02136
ICD10 34 E71.1
ICD10 via Orphanet 35 E71.1
Orphanet 60 ORPHA308410
UMLS 74 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 : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 obligate (100%) HP:0001249
2 seizures 33 obligate (100%) HP:0001250
3 autism 33 obligate (100%) HP:0000717
4 abnormal circulating branched chain amino acid concentration 33 obligate (100%) HP:0010892

Clinical features from OMIM:

614923

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

47
# 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 30 BCKDK

Anatomical Context for Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

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

42
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:

76
# 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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCKDK NM_005881.3(BCKDK): c.847G> A (p.Ala283Thr) single nucleotide variant Uncertain significance rs760851100 GRCh37 Chromosome 16, 31122622: 31122622
2 BCKDK NM_005881.3(BCKDK): c.847G> A (p.Ala283Thr) single nucleotide variant Uncertain significance rs760851100 GRCh38 Chromosome 16, 31111301: 31111301
3 BCKDK NM_005881.3(BCKDK): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs397514573 GRCh37 Chromosome 16, 31121568: 31121568
4 BCKDK NM_005881.3(BCKDK): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs397514573 GRCh38 Chromosome 16, 31110247: 31110247
5 BCKDK NM_005881.3c.222delG deletion Pathogenic
6 BCKDK NM_005881.3(BCKDK): c.671G> C (p.Arg224Pro) single nucleotide variant Pathogenic rs147210405 GRCh37 Chromosome 16, 31122037: 31122037
7 BCKDK NM_005881.3(BCKDK): c.671G> C (p.Arg224Pro) single nucleotide variant Pathogenic rs147210405 GRCh38 Chromosome 16, 31110716: 31110716
8 BCKDK NM_005881.3(BCKDK): c.1066A> T (p.Ser356Cys) single nucleotide variant Uncertain significance rs142542453 GRCh37 Chromosome 16, 31123320: 31123320
9 BCKDK NM_005881.3(BCKDK): c.1066A> T (p.Ser356Cys) single nucleotide variant Uncertain significance rs142542453 GRCh38 Chromosome 16, 31111999: 31111999
10 BCKDK NM_005881.3(BCKDK): c.453C> G (p.Tyr151Ter) single nucleotide variant Likely pathogenic rs369521689 GRCh37 Chromosome 16, 31121555: 31121555
11 BCKDK NM_005881.3(BCKDK): c.453C> G (p.Tyr151Ter) single nucleotide variant Likely pathogenic rs369521689 GRCh38 Chromosome 16, 31110234: 31110234
12 subset of 40 genes:SETD1A; SRCAP NC_000016.9: g.30554158_31536880del982723 deletion Uncertain significance GRCh37 Chromosome 16, 30554158: 31536880

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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