ORPHA:391417
HSD10 disease
Also known as: 2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency · HSD10 deficiency · MHBD deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,319
Trials
0
Interventional, condition-specific
Researchers
1,146
Distinct authors in sample
Gene link
HSD17B10
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a neurodegenerative course, , retinopathy and .
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (14)
17-beta-hydroxysteroid dehydrogenase 10 deficiency · 17-beta-hydroxysteroid dehydrogenase X deficiency · 3-hydroxyacyl-CoA dehydrogenase 2 deficiency · HSD10 mitochondrial disease · HSD10 mitochondrial disease, X-linked dominant · HSD10MD · HSD17B10 deficiency · MRXS10 · chorioathetosis with mental retardation and abnormal behavior · chorioathetosis with mental retardation and abnormal behaviour · mental retardation with chorioathetosis and abnormal behavior · mental retardation with chorioathetosis and abnormal behaviour · mental retardation, X-linked, syndromic 10 · mental retardation, X-linked, syndromic type 10
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — HSD17B10
- LiteraturePresent
1,319 matched papers (899 in last 10 years) Source
- Phenotype characterisedPresent
127 HPO annotations (e.g. Seizure; Global developmental delay; Hypertrophic cardiomyopathy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (HSD17B10).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
127
Associated phenotypes · MONDO:0010327
- Seizure
- Global developmental delay
- Hypertrophic cardiomyopathy
- Metabolic acidosis
- Lactic acidosis
Showing 5 of 127 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,319
1,319 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,319 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
899 in the last 10 years · low confidence
Phrase hits: 176 · MeSH hits: 0
Who's working on it?
1,146
Distinct author names in 176 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Yang SY15 papers · 2025
Department of Molecular Biology, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Papers in Europe PMC - 02He XY14 papers · 2025
Department of Molecular Biology, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Papers in Europe PMC - 03Wanders RJ10 papers · 2015
Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands. r.j.wanders@amc.nl.
Papers in Europe PMC - 04Dobkin C8 papers · 2023
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Papers in Europe PMC - 05Zschocke J8 papers · 2022
Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.
Papers in Europe PMC - 06Rossmanith W6 papers · 2024
Center for Anatomy & Cell Biology, Medical University of Vienna, Austria. walter.rossmanith@meduniwien.ac.at
Papers in Europe PMC - 07Ruiter JP6 papers · 2015
Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands. j.ruiter@amc.uva.nl.
Papers in Europe PMC - 08Brown WT5 papers · 2023
Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Papers in Europe PMC - 09Fukao T5 papers · 2019
Department of Pediatrics, Gifu University School of Medicine, Japan.
Papers in Europe PMC - 10Ofman R5 papers · 2015
Department of Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, The Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for HSD10 disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("HSD10 disease" OR "2-methyl-3-hydroxybutyric aciduria" OR "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" OR "HSD10 deficiency" OR "MHBD deficiency" OR "17-beta-hydroxysteroid dehydrogenase 10 deficiency" OR "17-beta-hydroxysteroid dehydrogenase X deficiency" OR "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" OR "HSD10 mitochondrial disease" OR "HSD10 mitochondrial disease, X-linked dominant" OR "HSD10MD" OR "HSD17B10 deficiency" OR "MRXS10" OR "chorioathetosis with mental retardation and abnormal behavior" OR "chorioathetosis with mental retardation and abnormal behaviour" OR "mental retardation with chorioathetosis and abnormal behavior" OR "mental retardation with chorioathetosis and abnormal behaviour" OR "mental retardation, X-linked, syndromic 10" OR "mental retardation, X-linked, syndromic type 10") OR (MESH:"[OBSOLETE] Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency" OR MESH:"Mental Retardation, X-Linked, Syndromic 10") OR ("HSD17B10" OR "HSD17B10 syndrome" OR "HSD17B10-related" OR "HSD10" OR "HSD10 syndrome" OR "HSD10-related")MeSH descriptor terms unioned into the query: [OBSOLETE] Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; Mental Retardation, X-Linked, Syndromic 10
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"HSD10 disease" OR "2-methyl-3-hydroxybutyric aciduria" OR "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" OR "HSD10 deficiency" OR "MHBD deficiency" OR "17-beta-hydroxysteroid dehydrogenase 10 deficiency" OR "17-beta-hydroxysteroid dehydrogenase X deficiency" OR "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" OR "HSD10 mitochondrial disease" OR "HSD10 mitochondrial disease, X-linked dominant" OR "HSD10MD" OR "HSD17B10 deficiency" OR "MRXS10" OR "chorioathetosis with mental retardation and abnormal behavior" OR "chorioathetosis with mental retardation and abnormal behaviour" OR "mental retardation with chorioathetosis and abnormal behavior" OR "mental retardation with chorioathetosis and abnormal behaviour" OR "mental retardation, X-linked, syndromic 10" OR "mental retardation, X-linked, syndromic type 10" OR "[OBSOLETE] Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1319) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:04:59.810Z