MCID: 3LP002
MIFTS: 10

3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 53
Medium and Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 53
3-Hydroxylacyl-Coa Dehydrogenase Deficiency 53
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 73
Hadh Deficiency 53
M/schad 53

Classifications:



External Ids:

UMLS 73 C1291230

Summaries for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71212Disease definitionHyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.EpidemiologyLess than 10 cases have been reported to date.Clinical descriptionThe disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide.EtiologyIt is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase.Genetic counselingThe mode of inheritance is autosomal recessive and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as medium and short chain 3-hydroxyacyl-coa dehydrogenase deficiency, is related to hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency. An important gene associated with 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase).

Related Diseases for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Diseases related to 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 12.4
2 3-hydroxyacyl-coa dehydrogenase deficiency 12.1

Symptoms & Phenotypes for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Drugs & Therapeutics for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Anatomical Context for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Publications for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency:

# Title Authors Year
1
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592 )
2012

Variations for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Expression for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

GO Terms for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources for 3-Alpha Hydroxyacyl-Coa Dehydrogenase 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
Content
Loading form....