MCID: MDM005
MIFTS: 14

Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Categories: Rare diseases

Aliases & Classifications for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

MalaCards integrated aliases for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency:

Name: Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 57 70
Medium-Chain 3-Ketoacyl-Coa Thiolase Deficiency 20 29
Mckat Deficiency 57 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
medium chain 3-ketoacyl-coa thiolase deficiency:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

MalaCards based summary : Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency, is also known as medium-chain 3-ketoacyl-coa thiolase deficiency. Affiliated tissues include liver, and related phenotypes are dehydration and vomiting

More information from OMIM: 602199

Related Diseases for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Symptoms & Phenotypes for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Human phenotypes related to Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dehydration 31 HP:0001944
2 vomiting 31 HP:0002013
3 metabolic acidosis 31 HP:0001942
4 decreased liver function 31 HP:0001410
5 rhabdomyolysis 31 HP:0003201
6 myoglobinuria 31 HP:0002913

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic:
dehydration
metabolic acidosis

Misc:
neonatal death

Lab:
myoglobinuria
mitochondrial medium chain 3-ketoacyl-coenzyme a thiolase deficiency

G I:
vomiting
liver dysfunction

Muscle:
rhabdomyolysis

Clinical features from OMIM®:

602199 (Updated 20-May-2021)

Drugs & Therapeutics for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Search Clinical Trials , NIH Clinical Center for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Genetic Tests for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Genetic tests related to Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency:

# Genetic test Affiliating Genes
1 Medium-Chain 3-Ketoacyl-Coa Thiolase Deficiency 29

Anatomical Context for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

MalaCards organs/tissues related to Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency:

40
Liver

Publications for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Articles related to Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency:

# Title Authors PMID Year
1
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. 57
9357925 1997
2
[Medium-chain 3-ketoacyl-CoA thiolase deficiency]. 61
11596458 2001
3
Clinical and biochemical features of fatty acid oxidation disorders. 61
9848022 1998

Variations for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Expression for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Search GEO for disease gene expression data for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency.

Pathways for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

GO Terms for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

Sources for Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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