MCID: 2MT001
MIFTS: 18

2-Methyl-3-Hydroxybutyric Aciduria

Categories: Rare diseases

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

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

Name: 2-Methyl-3-Hydroxybutyric Aciduria 53 25 29 6 73
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency 53 25
3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency 53 25
Hydroxyacyl-Coa Dehydrogenase Ii Deficiency 53 25
3h2mbd Deficiency 53 25
Hsd10 Deficiency 53 25
Mhbd Deficiency 53 25
2m3hba 53 25
17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency 53
17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency 25
Deficiency, 17-Beta-Hydroxysteroid Dehydrogenase X 40
Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency 73
17-Beta-Hydroxysteroid Dehydrogenase X 13
Hsd10 Disease 25

Classifications:



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Summaries for 2-Methyl-3-Hydroxybutyric Aciduria

Genetics Home Reference : 25 HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females. Most affected males have a form of HSD10 disease in which early development seems normal, followed by a stage in which affected individuals rapidly lose skills they have acquired. This developmental regression often occurs between the ages of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills such as sitting, standing, and walking. This form of the disorder is referred to as the infantile type. Less commonly, affected males have severe neurological problems from birth and never develop motor skills. This form is called the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually gets worse. Weakening of the heart muscle (cardiomyopathy) also occurs and is a common cause of death in males with severe HSD10 disease. Many affected males do not survive beyond early childhood.

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 has symptoms including muscle spasticity, seizures and agitation. An important gene associated with 2-Methyl-3-Hydroxybutyric Aciduria is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10). Affiliated tissues include heart.

NIH Rare Diseases : 53 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.

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:

# Related Disease Score Top Affiliating Genes
1 hsd10 mitochondrial disease 11.5

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

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


muscle spasticity, seizures, agitation, unspecified visual loss, 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:

# Genetic test Affiliating Genes
1 2-Methyl-3-Hydroxybutyric Aciduria 29 HSD17B10

Anatomical Context for 2-Methyl-3-Hydroxybutyric Aciduria

MalaCards organs/tissues related to 2-Methyl-3-Hydroxybutyric Aciduria:

41
Heart

Publications for 2-Methyl-3-Hydroxybutyric Aciduria

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

# 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
(show all 20)
# 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.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic rs28935475 GRCh38 Chromosome X, 53432086: 53432086
3 HSD17B10 NM_001037811.2(HSD17B10): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs28935476 GRCh37 Chromosome X, 53459058: 53459058
4 HSD17B10 NM_001037811.2(HSD17B10): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs28935476 GRCh38 Chromosome X, 53432110: 53432110
5 HSD17B10 NM_001037811.2(HSD17B10): c.713A> G (p.Asn238Ser) single nucleotide variant Pathogenic rs122461163 GRCh37 Chromosome X, 53458398: 53458398
6 HSD17B10 NM_001037811.2(HSD17B10): c.713A> G (p.Asn238Ser) single nucleotide variant Pathogenic rs122461163 GRCh38 Chromosome X, 53431450: 53431450
7 HSD17B10 NM_004493.2(HSD17B10): c.574C> A (p.Arg192=) single nucleotide variant Pathogenic rs122462164 GRCh37 Chromosome X, 53458767: 53458767
8 HSD17B10 NM_004493.2(HSD17B10): c.574C> A (p.Arg192=) single nucleotide variant Pathogenic rs122462164 GRCh38 Chromosome X, 53431819: 53431819
9 HSD17B10 NM_001037811.2(HSD17B10): c.718G> C (p.Glu240Gln) single nucleotide variant Pathogenic rs62626305 GRCh37 Chromosome X, 53458393: 53458393
10 HSD17B10 NM_001037811.2(HSD17B10): c.718G> C (p.Glu240Gln) single nucleotide variant Pathogenic rs62626305 GRCh38 Chromosome X, 53431445: 53431445
11 HSD17B10 NM_001037811.2(HSD17B10): c.257A> G (p.Asp86Gly) single nucleotide variant Pathogenic rs587777651 GRCh37 Chromosome X, 53459295: 53459295
12 HSD17B10 NM_001037811.2(HSD17B10): c.257A> G (p.Asp86Gly) single nucleotide variant Pathogenic rs587777651 GRCh38 Chromosome X, 53432347: 53432347
13 HSD17B10 NM_004493.2(HSD17B10): c.218C> G (p.Thr73Arg) single nucleotide variant Uncertain significance rs794729644 GRCh37 Chromosome X, 53459334: 53459334
14 HSD17B10 NM_004493.2(HSD17B10): c.218C> G (p.Thr73Arg) single nucleotide variant Uncertain significance rs794729644 GRCh38 Chromosome X, 53432386: 53432386
15 HSD17B10 NM_004493.2(HSD17B10): c.592C> A (p.Pro198Thr) single nucleotide variant Likely pathogenic rs886037927 GRCh37 Chromosome X, 53458749: 53458749
16 HSD17B10 NM_004493.2(HSD17B10): c.592C> A (p.Pro198Thr) single nucleotide variant Likely pathogenic rs886037927 GRCh38 Chromosome X, 53431801: 53431801
17 HSD17B10 NM_004493.2(HSD17B10): c.634A> G (p.Lys212Glu) single nucleotide variant Pathogenic rs886041974 GRCh37 Chromosome X, 53458504: 53458504
18 HSD17B10 NM_004493.2(HSD17B10): c.634A> G (p.Lys212Glu) single nucleotide variant Pathogenic rs886041974 GRCh38 Chromosome X, 53431556: 53431556
19 HSD17B10 NM_001037811.2(HSD17B10): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic GRCh38 Chromosome X, 53431513: 53431513
20 HSD17B10 NM_001037811.2(HSD17B10): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic GRCh37 Chromosome X, 53458461: 53458461

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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