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Atlas / Disease / HSD10 disease, infantile type

HSD10 disease, infantile type

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Also known as 2-methyl-3-hydroxybutyric aciduria, classic type2-methyl-3-hydroxybutyric aciduria, infantile type2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile typeHSD10 deficiency, classic typeHSD10 deficiency, infantile typeHSD10 disease, classic typeMHBD deficiency, classic typeMHBD deficiency, infantile type

Summary

HSD10 disease, infantile type (MONDO:0018322) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • Phenotypes (HPO): 51

Clinical features

Signs & symptoms

Clinical features (HPO)

51 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO IDTermFrequency
HP:0002151Increased circulating lactate concentrationVery frequent (80-99%)
HP:0002490Increased CSF lactateVery frequent (80-99%)
HP:0003287Abnormality of mitochondrial metabolismVery frequent (80-99%)
HP:0012379Abnormal enzyme/coenzyme activityVery frequent (80-99%)
HP:0000618BlindnessFrequent (30-79%)
HP:0000750Delayed speech and language developmentFrequent (30-79%)
HP:0001250SeizureFrequent (30-79%)
HP:0001252HypotoniaFrequent (30-79%)
HP:0001263Global developmental delayFrequent (30-79%)
HP:0001942Metabolic acidosisFrequent (30-79%)
HP:0001943HypoglycemiaFrequent (30-79%)
HP:0002059Cerebral atrophyFrequent (30-79%)
HP:0002180NeurodegenerationFrequent (30-79%)
HP:0002376Developmental regressionFrequent (30-79%)
HP:0003128Lactic acidosisFrequent (30-79%)
HP:0011343Moderate global developmental delayFrequent (30-79%)
HP:0500170Abnormal concentration of acylcarnitine in the urineFrequent (30-79%)
HP:0002487Hyperkinetic movementsOccasional (5-29%)
HP:0002505Loss of ambulationOccasional (5-29%)
HP:0002506Diffuse cerebral atrophyOccasional (5-29%)
HP:0002579Gastrointestinal dysmotilityOccasional (5-29%)
HP:0006892Frontotemporal cerebral atrophyOccasional (5-29%)
HP:0007030Nonprogressive encephalopathyOccasional (5-29%)
HP:0010864Intellectual disability, severeOccasional (5-29%)
HP:0010936Abnormality of the lower urinary tractOccasional (5-29%)
HP:0012707Elevated brain lactate level by MRSOccasional (5-29%)
HP:0030391Spoken Word Recognition DeficitOccasional (5-29%)
HP:0000252MicrocephalyOccasional (5-29%)
HP:0000365Hearing impairmentOccasional (5-29%)
HP:0000510Rod-cone dystrophyOccasional (5-29%)
HP:0000546Retinal degenerationOccasional (5-29%)
HP:0000572Visual lossOccasional (5-29%)
HP:0000639NystagmusOccasional (5-29%)
HP:0000648Optic atrophyOccasional (5-29%)
HP:0000711RestlessnessOccasional (5-29%)
HP:0000749Paroxysmal bursts of laughterOccasional (5-29%)
HP:0000961CyanosisOccasional (5-29%)
HP:0001260DysarthriaOccasional (5-29%)
HP:0001264Spastic diplegiaOccasional (5-29%)
HP:0001266ChoreoathetosisOccasional (5-29%)
HP:0001285Spastic tetraparesisOccasional (5-29%)
HP:0001332DystoniaOccasional (5-29%)
HP:0001344Absent speechOccasional (5-29%)
HP:0001639Hypertrophic cardiomyopathyOccasional (5-29%)
HP:0001640CardiomegalyOccasional (5-29%)
HP:0001987HyperammonemiaOccasional (5-29%)
HP:0001999Abnormal facial shapeOccasional (5-29%)
HP:0002015DysphagiaOccasional (5-29%)
HP:0002134Abnormality of the basal gangliaOccasional (5-29%)
HP:0002370Poor coordinationOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical nameHSD10 disease, infantile type
Mondo IDMONDO:0018322
Orphanet391428
UMLSC5680025
MedGen1843150
GARD0017622
Is cancer (heuristic)no

Also known as: 2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type · HSD10 deficiency, classic type · HSD10 deficiency, infantile type · HSD10 disease, classic type · MHBD deficiency, classic type · MHBD deficiency, infantile type

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › developmental anomaly of metabolic origin › inborn mitochondrial metabolism disorder › HSD10 mitochondrial disease › HSD10 disease, infantile type

Related subtypes (2): HSD10 disease, neonatal type, HSD10 disease, atypical type

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
HSD17B10DefinitiveX-linkedHSD10 mitochondrial disease6

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
HSD17B10Orphanet:391428HSD10 disease, infantile type
HSD17B10Orphanet:391457HSD10 disease, neonatal type
HSD17B10Orphanet:85295HSD10 disease, atypical type

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
HSD17B10HGNC:4800ENSG00000072506Q997143-hydroxyacyl-CoA dehydrogenase type-2gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
HSD17B103-hydroxyacyl-CoA dehydrogenase type-2Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Enzyme (other)112.0×0.083

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
HSD17B10Enzyme (other)yes1.1.1.135SDR_fam, Sc_DH/Rdtase_CS, NAD(P)-bd_dom_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
liver1
right adrenal gland1
right lobe of liver1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
HSD17B10155ubiquitousmarkerright lobe of liver, liver, right adrenal gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
HSD17B102,961

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HSD17B10Q9971415

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
tRNA processing in the mitochondrion12284.0×0.002HSD17B10
rRNA processing in the mitochondrion11268.9×0.002HSD17B10
tRNA modification in the mitochondrion11038.2×0.002HSD17B10
Branched-chain amino acid catabolism1475.8×0.003HSD17B10
Mitochondrial protein degradation1114.2×0.009HSD17B10

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
brexanolone metabolic process116852.0×8e-04HSD17B10
mitochondrial tRNA methylation15617.3×8e-04HSD17B10
mitochondrial tRNA 5’-end processing15617.3×8e-04HSD17B10
mitochondrial tRNA 3’-end processing14213.0×8e-04HSD17B10
C21-steroid hormone metabolic process13370.4×8e-04HSD17B10
L-isoleucine catabolic process12808.7×8e-04HSD17B10
androgen metabolic process1887.0×0.002HSD17B10
bile acid biosynthetic process1624.1×0.002HSD17B10
estrogen metabolic process1624.1×0.002HSD17B10
fatty acid beta-oxidation1374.5×0.004HSD17B10
protein homotetramerization1237.3×0.005HSD17B10
fatty acid metabolic process1193.7×0.006HSD17B10
mitochondrion organization1151.8×0.007HSD17B10
lipid metabolic process191.6×0.011HSD17B10

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
HSD17B10LEVODOPA

Top cohort targets by molecule count

SymbolMoleculesMax phase
HSD17B102494

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
LEVODOPA4HSD17B10
PHENYLBUTAZONE4HSD17B10
CANDESARTAN CILEXETIL4HSD17B10
TELMISARTAN4HSD17B10
DIENESTROL4HSD17B10
CHOLECALCIFEROL4HSD17B10
BUMETANIDE4HSD17B10
SALMETEROL XINAFOATE4HSD17B10
SULFAPHENAZOLE4HSD17B10
RALOXIFENE HYDROCHLORIDE4HSD17B10
DICYCLOMINE4HSD17B10
CISPLATIN4HSD17B10
TETRABENAZINE4HSD17B10
DECAMETHONIUM4HSD17B10
LABETALOL HYDROCHLORIDE4HSD17B10
DIMENHYDRINATE4HSD17B10
HYDROXYZINE PAMOATE4HSD17B10
MALATHION4HSD17B10
PYRITHIONE ZINC4HSD17B10
AVOBENZONE4HSD17B10
CEFOXITIN SODIUM4HSD17B10
OXYMETHOLONE4HSD17B10
FEXOFENADINE HYDROCHLORIDE4HSD17B10
GEMIFLOXACIN MESYLATE4HSD17B10
AMPICILLIN SODIUM4HSD17B10
CHLOROTRIANISENE4HSD17B10
TRAZODONE HYDROCHLORIDE4HSD17B10
ETHOPROPAZINE HYDROCHLORIDE4HSD17B10
PHENAZOPYRIDINE HYDROCHLORIDE4HSD17B10
ACRISORCIN4HSD17B10

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
HSD17B1041Binding:39, Functional:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
HSD17B101.1.1.135, 1.1.1.178, 1.1.1.35, 1.1.1.62GDP-6-deoxy-D-talose 4-dehydrogenase, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, 3-hydroxyacyl-CoA dehydrogenase, 17beta-estradiol 17-dehydrogenase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
LEVODOPA4HSD17B10
PHENYLBUTAZONE4HSD17B10
CANDESARTAN CILEXETIL4HSD17B10
TELMISARTAN4HSD17B10
DIENESTROL4HSD17B10
CHOLECALCIFEROL4HSD17B10
BUMETANIDE4HSD17B10
SALMETEROL XINAFOATE4HSD17B10
SULFAPHENAZOLE4HSD17B10
RALOXIFENE HYDROCHLORIDE4HSD17B10
DICYCLOMINE4HSD17B10
CISPLATIN4HSD17B10
TETRABENAZINE4HSD17B10
DECAMETHONIUM4HSD17B10
LABETALOL HYDROCHLORIDE4HSD17B10
DIMENHYDRINATE4HSD17B10
HYDROXYZINE PAMOATE4HSD17B10
MALATHION4HSD17B10
PYRITHIONE ZINC4HSD17B10
AVOBENZONE4HSD17B10
CEFOXITIN SODIUM4HSD17B10
OXYMETHOLONE4HSD17B10
FEXOFENADINE HYDROCHLORIDE4HSD17B10
GEMIFLOXACIN MESYLATE4HSD17B10
AMPICILLIN SODIUM4HSD17B10
CHLOROTRIANISENE4HSD17B10
TRAZODONE HYDROCHLORIDE4HSD17B10
ETHOPROPAZINE HYDROCHLORIDE4HSD17B10
PHENAZOPYRIDINE HYDROCHLORIDE4HSD17B10
ACRISORCIN4HSD17B10

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1HSD17B10
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 67

This page pulls from 67 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot