MCID: 2MT001
MIFTS: 17

2-Methyl-3-Hydroxybutyric Aciduria

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for 2-Methyl-3-Hydroxybutyric Aciduria

MalaCards integrated aliases for 2-Methyl-3-Hydroxybutyric Aciduria:

Name: 2-Methyl-3-Hydroxybutyric Aciduria 50 29 69
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency 50 24
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 24 13
Hsd10 Deficiency 50 24
17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency 50
3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency 50
Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency 69
Hydroxyacyl-Coa Dehydrogenase Ii Deficiency 50
17-Beta-Hydroxysteroid Dehydrogenase X 13
Hsd17b10 Deficiency 24
3h2mbd Deficiency 50
Hsd 10 Deficiency 24
Mhbd Deficiency 50
2m3hba 50

Classifications:



Summaries for 2-Methyl-3-Hydroxybutyric Aciduria

NIH Rare Diseases : 50 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the hsd17b10 gene; it has an x-linked dominant pattern of inheritance. last updated: 3/24/2010

MalaCards based summary : 2-Methyl-3-Hydroxybutyric Aciduria, also known as 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, is related to hsd10 mitochondrial disease and 17β-hydroxysteroid dehydrogenase type 10 deficiency, and has symptoms including seizures and restlessness. An important gene associated with 2-Methyl-3-Hydroxybutyric Aciduria is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10).

Related Diseases for 2-Methyl-3-Hydroxybutyric Aciduria

Diseases related to 2-Methyl-3-Hydroxybutyric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hsd10 mitochondrial disease 11.3
2 17β-hydroxysteroid dehydrogenase type 10 deficiency 11.0

Symptoms & Phenotypes for 2-Methyl-3-Hydroxybutyric Aciduria

UMLS symptoms related to 2-Methyl-3-Hydroxybutyric Aciduria:


seizures, restlessness

Drugs & Therapeutics for 2-Methyl-3-Hydroxybutyric Aciduria

Search Clinical Trials , NIH Clinical Center for 2-Methyl-3-Hydroxybutyric Aciduria

Genetic Tests for 2-Methyl-3-Hydroxybutyric Aciduria

Genetic tests related to 2-Methyl-3-Hydroxybutyric Aciduria:

id Genetic test Affiliating Genes
1 2-Methyl-3-Hydroxybutyric Aciduria 29
2 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 24 HSD17B10

Anatomical Context for 2-Methyl-3-Hydroxybutyric Aciduria

Publications for 2-Methyl-3-Hydroxybutyric Aciduria

Articles related to 2-Methyl-3-Hydroxybutyric Aciduria:

id Title Authors Year
1
The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. ( 6133656 )
1983

Variations for 2-Methyl-3-Hydroxybutyric Aciduria

ClinVar genetic disease variations for 2-Methyl-3-Hydroxybutyric Aciduria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B10 NM_001037811.2(HSD17B10): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic rs28935475 GRCh37 Chromosome X, 53459034: 53459034
2 HSD17B10 NM_001037811.2(HSD17B10): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs28935476 GRCh37 Chromosome X, 53459058: 53459058
3 HSD17B10 NM_001037811.2(HSD17B10): c.713A> G (p.Asn238Ser) single nucleotide variant Pathogenic rs122461163 GRCh37 Chromosome X, 53458398: 53458398
4 HSD17B10 NM_004493.2(HSD17B10): c.574C> A (p.Arg192=) single nucleotide variant Pathogenic rs122462164 GRCh37 Chromosome X, 53458767: 53458767
5 HSD17B10 NM_001037811.2(HSD17B10): c.718G> C (p.Glu240Gln) single nucleotide variant Pathogenic rs62626305 GRCh37 Chromosome X, 53458393: 53458393
6 HSD17B10 NM_001037811.2(HSD17B10): c.257A> G (p.Asp86Gly) single nucleotide variant Pathogenic rs587777651 GRCh37 Chromosome X, 53459295: 53459295
7 HSD17B10 NM_004493.2(HSD17B10): c.634A> G (p.Lys212Glu) single nucleotide variant Pathogenic rs886041974 GRCh37 Chromosome X, 53458504: 53458504

Expression for 2-Methyl-3-Hydroxybutyric Aciduria

Search GEO for disease gene expression data for 2-Methyl-3-Hydroxybutyric Aciduria.

Pathways for 2-Methyl-3-Hydroxybutyric Aciduria

GO Terms for 2-Methyl-3-Hydroxybutyric Aciduria

Sources for 2-Methyl-3-Hydroxybutyric Aciduria

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10 dbSNP
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16 ExPASy
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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