ORPHA:163690
Hypotonia-cystinuria syndrome
Also known as: HCS
Publications
76
50.1th percentile
Trials
2
Interventional, condition-specific
Researchers
528
Distinct authors in sample
Gene link
PREPL
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic disorder of amino acid absorption and transport, characterized by generalized at birth, / (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.
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.
- MONDO:0011669
- MeSH:C564710
- OMIM:606407
- UMLS:C1848030
Additional Mondo synonyms (4)
cystinuria with mitochondrial disease · hypotonia-cystinuria syndrome · hypotonia-cystinuria syndrome type 1 · hypotonia-cystinuria type 1 syndrome
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — PREPL
- LiteraturePresent
76 matched papers (41 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
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 (PREPL).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
76
76 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
76 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
41 in the last 10 years · medium confidence · 50.1th percentile (publications denominator)
Phrase hits: 76 · MeSH hits: 2
Who's working on it?
528
Distinct author names in 76 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Meulemans S10 papers · 2024
Laboratory of Biochemical Neuroendocrinology, Department of Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 02Creemers JW9 papers · 2024
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, ON1 Herestraat 49 - b 607, 3000, Belgium
Papers in Europe PMC - 03Jaeken J8 papers · 2012
Department of Paediatrics, University Hospitals Leuven, Belgium.
Papers in Europe PMC - 04Martens K6 papers · 2009
Laboratory of Biochemical Neuroendocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, B-3000 Leuven, Belgium.
Papers in Europe PMC - 05Matthijs G6 papers · 2009Papers in Europe PMC
- 06Creemers J5 papers · 2014
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 07Régal L5 papers · 2021
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Eggermann T4 papers · 2018
Institut für Humangenetik, RWTH Aachen, Aachen, Germany. teggermann@ukaachen.de
Papers in Europe PMC - 09Bhalla K3 papers · 2024
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 10Cravatt BF3 papers · 2021
The Department of Chemistry and The Skaggs Institute for Chemical Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Hypotonia-cystinuria syndrome" OR "cystinuria with mitochondrial disease" OR "hypotonia-cystinuria syndrome type 1" OR "hypotonia-cystinuria type 1 syndrome"
MeSH descriptor terms unioned into the query: Hypotonia-Cystinuria Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypotonia-cystinuria syndrome" OR "cystinuria with mitochondrial disease" OR "hypotonia-cystinuria syndrome type 1" OR "hypotonia-cystinuria type 1 syndrome" OR "PREPL"
Recall-expansion terms: PREPL
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HCS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:10:54.635Z