HSD10MD
MCID: HSD004
MIFTS: 44

Hsd10 Mitochondrial Disease (HSD10MD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hsd10 Mitochondrial Disease

MalaCards integrated aliases for Hsd10 Mitochondrial Disease:

Name: Hsd10 Mitochondrial Disease 57 20
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency 57 20 43 58 72
Mhbd Deficiency 57 20 43 58 72
Hsd10 Disease 20 43 58 29 6
2-Methyl-3-Hydroxybutyric Aciduria 20 43 58 70
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 57 72 13
Hsd10 Deficiency 20 43 58
Mental Retardation with Chorioathetosis and Abnormal Behavior 57 72
3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency 20 43
3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency 57 72
Hydroxyacyl-Coa Dehydrogenase Ii Deficiency 20 43
Mental Retardation, X-Linked, Syndromic 10 29 70
Hsd17b10 Deficiency 57 72
3h2mbd Deficiency 20 43
Hsd10md 57 72
Mrxs10 57 72
2m3hba 20 43
Camr 57 72
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome 58
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type 58
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type 58
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type 58
Chorioathetosis with Mental Retardation and Abnormal Behavior; Camr 57
Chorioathetosis with Mental Retardation and Abnormal Behavior 57
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency 36
17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency 20
17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency 43
Mental Retardation, X-Linked, Syndromic 10; Mrxs10 57
Syndromic X-Linked Intellectual Disability Type 10 58
2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type 58
3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency 72
Deficiency, 17-Beta-Hydroxysteroid Dehydrogenase X 39
2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type 58
3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency 72
3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency 72
Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency 70
2-Methyl-3-Hydroxybutyric Aciduria, Classic Type 58
Hsd10 Deficiency, Infantile Type 58
Hsd10 Deficiency, Atypical Type 58
Mhbd Deficiency, Infantile Type 58
Hsd10 Deficiency, Neonatal Type 58
Hsd10 Deficiency, Classic Type 58
Mhbd Deficiency, Neonatal Type 58
Hsd10 Disease, Infantile Type 58
Mhbd Deficiency, Classic Type 58
Hsd10 Disease, Atypical Type 58
Hsd10 Disease, Neonatal Type 58
Hsd10 Disease, Classic Type 58
Hds10 Mitochondrial Disease 72

Characteristics:

Orphanet epidemiological data:

58
hsd10 disease
Inheritance: X-linked dominant;
hsd10 disease, infantile type
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal;
hsd10 disease, neonatal type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
hsd10 disease, atypical type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
highly variable phenotype and severity
age at onset can range from infancy to childhood
less severe phenotype in females
severity of phenotype is not related to residual enzyme activity

Inheritance:
x-linked dominant


HPO:

31
hsd10 mitochondrial disease:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Hsd10 Mitochondrial Disease

OMIM® : 57 HSD10 mitochondrial disease (HSD10MD) most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; Zschocke, 2012). In a review of this disorder, Zschocke (2012) noted that although it was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS). (300438) (Updated 05-Apr-2021)

MalaCards based summary : Hsd10 Mitochondrial Disease, also known as 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, is related to syndromic x-linked intellectual disability type 10 and 2-methylbutyryl-coa dehydrogenase deficiency, and has symptoms including seizures, restlessness and agitation. An important gene associated with Hsd10 Mitochondrial Disease is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10), and among its related pathways/superpathways is Valine, leucine and isoleucine degradation. The drugs rituximab and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are hypertrophic cardiomyopathy and increased serum lactate

MedlinePlus Genetics : 43 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.Females with HSD10 disease may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some affected females have additional features of this condition, such as epilepsy, movement problems, and hearing loss. Affected females appear to have a normal life expectancy.

GARD : 20 HSD10 disease (also known as 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. HSD10 disease is caused by mutations in the HSD17B10 gene ; it has an X-linked dominant pattern of inheritance.

KEGG : 36 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. MHBD is characterized by normal early development followed by progressive loss of mental and motor skills.

UniProtKB/Swiss-Prot : 72 HDS10 mitochondrial disease: An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis.

Wikipedia : 73 17-β-Hydroxysteroid dehydrogenase X (HSD10) also known as 3-hydroxyacyl-CoA dehydrogenase type-2 is a... more...

Related Diseases for Hsd10 Mitochondrial Disease

Graphical network of the top 20 diseases related to Hsd10 Mitochondrial Disease:



Diseases related to Hsd10 Mitochondrial Disease

Symptoms & Phenotypes for Hsd10 Mitochondrial Disease

Human phenotypes related to Hsd10 Mitochondrial Disease:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001639
2 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
3 increased csf lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002490
4 lactic acidosis 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0003128
5 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001942
6 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012379
7 psychomotor retardation 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0025356
8 abnormality of mitochondrial metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0003287
9 abnormal urinary acylglycine profile 58 31 hallmark (90%) Very frequent (99-80%) HP:0012073
10 abnormal concentration of acylcarnitine in the urine 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0500170
11 seizure 31 frequent (33%) HP:0001250
12 developmental regression 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002376
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001263
14 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000750
15 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
16 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
17 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
20 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
21 neurodegeneration 58 31 frequent (33%) Frequent (79-30%) HP:0002180
22 elevated urinary 3-hydroxybutyric acid 58 31 frequent (33%) Frequent (79-30%) HP:0040155
23 hypotonia 31 frequent (33%) HP:0001252
24 nystagmus 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0000639
25 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
26 dysarthria 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001260
27 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
28 dysphagia 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0002015
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
30 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
31 microcephaly 58 31 very rare (1%) Very rare (<4-1%),Occasional (29-5%) HP:0000252
32 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000648
33 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
34 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
35 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
36 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
37 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
38 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
39 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
40 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
41 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
42 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
43 restlessness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000711
44 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
45 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001266
46 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
47 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
48 spastic diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001264
49 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
50 retinal degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
dysarthria
spastic tetraplegia
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Head And Neck Ears:
hearing loss, sensorineural

Metabolic Features:
lactic acidosis (in some patients)
metabolic acidosis (in some patients)

Head And Neck Eyes:
nystagmus
optic atrophy
retinal degeneration
visual loss

Neurologic Behavioral Psychiatric Manifestations:
restlessness
agitation
aggression

Laboratory Abnormalities:
increased urinary tiglylglycine
patient cells show abnormal mitochondrial morphology
decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase
increased urinary 2-methyl-3 hydroxybutyrate

Clinical features from OMIM®:

300438 (Updated 05-Apr-2021)

UMLS symptoms related to Hsd10 Mitochondrial Disease:


seizures; restlessness; agitation; muscle spasticity; unspecified visual loss

Drugs & Therapeutics for Hsd10 Mitochondrial Disease

Drugs for Hsd10 Mitochondrial Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
2
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 93860 387447
3 Immunoglobulins Phase 1, Phase 2
4 Antirheumatic Agents Phase 1, Phase 2
5 Antibodies Phase 1, Phase 2
6 Immunoglobulins, Intravenous Phase 1, Phase 2
7 Antineoplastic Agents, Immunological Phase 1, Phase 2
8 Immunologic Factors Phase 1, Phase 2
9 gamma-Globulins Phase 1, Phase 2
10 Rho(D) Immune Globulin Phase 1, Phase 2
11 abobotulinumtoxinA
12 Botulinum Toxins, Type A

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Bone Marrow-derived Mesenchymal Stem Cells (BM-MSCs) on Chronic Antibody-mediated Rejection (cAMR) After Kidney Transplantation: A Multi-center Perspective Study Unknown status NCT02563340 Phase 1, Phase 2
2 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research (CAMR) Completed NCT00210431

Search NIH Clinical Center for Hsd10 Mitochondrial Disease

Genetic Tests for Hsd10 Mitochondrial Disease

Genetic tests related to Hsd10 Mitochondrial Disease:

# Genetic test Affiliating Genes
1 Hsd10 Disease 29 HSD17B10
2 Mental Retardation, X-Linked, Syndromic 10 29

Anatomical Context for Hsd10 Mitochondrial Disease

MalaCards organs/tissues related to Hsd10 Mitochondrial Disease:

40
Heart, Brain, Liver, Bone Marrow, Bone, Cortex

Publications for Hsd10 Mitochondrial Disease

Articles related to Hsd10 Mitochondrial Disease:

(show all 24)
# Title Authors PMID Year
1
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 57 61 6
16148061 2005
2
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 61 57 6
12696021 2003
3
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. 57 6
26950678 2016
4
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 6 57
22132097 2011
5
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 6 57
20077426 2010
6
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 6 57
17236142 2007
7
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. 57 6
12872843 2003
8
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man. 57 6
12555940 2002
9
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. 6 57
12112118 2002
10
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. 57 6
11102558 2000
11
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. 57 6
10521307 1999
12
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. 57 61
14729408 2004
13
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. 57
24549042 2014
14
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. 57
22127393 2012
15
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 57
19706438 2009
16
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. 6
17618155 2007
17
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 6
16176262 2005
18
Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses. 61
32703935 2020
19
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. 61
31654490 2019
20
Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation. 61
21843514 2011
21
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 61
18996107 2009
22
Inborn errors of isoleucine degradation: a review. 61
16950638 2006
23
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats. 61
15902553 2005
24
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. 61
15059617 2004

Variations for Hsd10 Mitochondrial Disease

ClinVar genetic disease variations for Hsd10 Mitochondrial Disease:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD17B10 NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) SNV Pathogenic 11443 rs28935476 GRCh37: X:53459058-53459058
GRCh38: X:53432110-53432110
2 HSD17B10 NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) SNV Pathogenic 11444 rs122461163 GRCh37: X:53458398-53458398
GRCh38: X:53431450-53431450
3 HSD17B10 NM_001037811.2(HSD17B10):c.568+6C>A SNV Pathogenic 11445 rs122462164 GRCh37: X:53458767-53458767
GRCh38: X:53431819-53431819
4 HSD17B10 NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) SNV Pathogenic 11446 rs62626305 GRCh37: X:53458393-53458393
GRCh38: X:53431445-53431445
5 HSD17B10 NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) SNV Pathogenic 144033 rs587777651 GRCh37: X:53459295-53459295
GRCh38: X:53432347-53432347
6 HSD17B10 NM_004493.3(HSD17B10):c.56C>G (p.Ala19Gly) SNV Pathogenic 975923 GRCh37: X:53460805-53460805
GRCh38: X:53433858-53433858
7 HSD17B10 NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) SNV Pathogenic 11442 rs28935475 GRCh37: X:53459034-53459034
GRCh38: X:53432086-53432086
8 HSD17B10 NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) SNV Pathogenic 280839 rs886041974 GRCh37: X:53458504-53458504
GRCh38: X:53431556-53431556
9 HSD17B10 NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) SNV Pathogenic 95101 rs104886492 GRCh37: X:53459358-53459358
GRCh38: X:53432410-53432410
10 HSD17B10 NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) SNV Likely pathogenic 254239 rs886037927 GRCh37: X:53458749-53458749
GRCh38: X:53431801-53431801
11 HSD17B10 NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly) SNV Likely pathogenic 1028768 GRCh37: X:53460776-53460776
GRCh38: X:53433829-53433829
12 HSD17B10 NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met) SNV Likely pathogenic 973446 GRCh37: X:53458385-53458385
GRCh38: X:53431437-53431437
13 HSD17B10 NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) SNV Likely pathogenic 813313 rs1602426573 GRCh37: X:53458824-53458824
GRCh38: X:53431876-53431876
14 HSD17B10 NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu) SNV Likely pathogenic 996911 GRCh37: X:53460697-53460697
GRCh38: X:53433750-53433750
15 HSD17B10 NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) SNV Uncertain significance 203377 rs794729644 GRCh37: X:53459334-53459334
GRCh38: X:53432386-53432386
16 HSD17B10 NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) SNV Uncertain significance 587599 rs1211736877 GRCh37: X:53459299-53459299
GRCh38: X:53432351-53432351
17 HSD17B10 NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) SNV Uncertain significance 435470 rs371014686 GRCh37: X:53459293-53459293
GRCh38: X:53432345-53432345
18 HSD17B10 NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr) SNV Uncertain significance 1028767 GRCh37: X:53461279-53461279
GRCh38: X:53434332-53434332

UniProtKB/Swiss-Prot genetic disease variations for Hsd10 Mitochondrial Disease:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 HSD17B10 p.Leu122Val VAR_015987 rs28935476
2 HSD17B10 p.Arg130Cys VAR_015988 rs28935475
3 HSD17B10 p.Asn247Ser VAR_032093 rs122461163
4 HSD17B10 p.Asp86Gly VAR_078864 rs587777651
5 HSD17B10 p.Gln165His VAR_078865
6 HSD17B10 p.Lys212Glu VAR_078866 rs886041974
7 HSD17B10 p.Glu249Gln VAR_078867 rs62626305
8 HSD17B10 p.Val12Leu VAR_080049
9 HSD17B10 p.Val176Met VAR_080050
10 HSD17B10 p.Pro210Ser VAR_080051
11 HSD17B10 p.Arg226Gln VAR_080052 rs155689450

Expression for Hsd10 Mitochondrial Disease

Search GEO for disease gene expression data for Hsd10 Mitochondrial Disease.

Pathways for Hsd10 Mitochondrial Disease

Pathways related to Hsd10 Mitochondrial Disease according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

GO Terms for Hsd10 Mitochondrial Disease

Sources for Hsd10 Mitochondrial Disease

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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