ORPHA:238523
Atypical hypotonia-cystinuria syndrome
Also known as: Atypical HCS
Publications
19
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
131
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of -cystinuria type 1 syndrome characterized by mild to moderate in addition to classic -cystinuria syndrome (cystinuria type 1, generalised , poor feeding, growth retardation, and minor facial dysmorphism).
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:0016539
- UMLS:C4755274
Additional Mondo synonyms (1)
atypical HCS
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
19 matched papers (10 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 trialPartial
None under the specific name; 2 for broader category hypotonia-cystinuria syndrome
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
19
19 papers have ever been indexed 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.
19 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 19 · MeSH hits: 0
Who's working on it?
131
Distinct author names in 19 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.
- 01Creemers JW4 papers · 2014Papers in Europe PMC
- 02Meulemans S4 papers · 2018
Laboratory of Biochemical Neuroendocrinology, Department of Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 03Jaeken J3 papers · 2009Papers in Europe PMC
- 04Martens K3 papers · 2009
Laboratory for Biochemical Neuroendocrinology, Centre for Human Genetics, University of Leuven, Belgium.
Papers in Europe PMC - 05Matthijs G3 papers · 2009Papers in Europe PMC
- 06Régal L3 papers · 2021
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 07Cano A2 papers · 2009Papers in Europe PMC
- 08Chabrol B2 papers · 2009
Reference Center for inborn metabolic disorders, CHU de Timone, Marseille, France.
Papers in Europe PMC - 09Creemers JWM2 papers · 2021
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 10Haziza S2 papers · 2015
Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
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). 2 trials are registered for hypotonia-cystinuria syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
2 interventional trials matched hypotonia-cystinuria syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypotonia-cystinuria syndrome
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Atypical hypotonia-cystinuria syndrome" OR "Atypical HCS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atypical hypotonia-cystinuria syndrome" OR "Atypical HCS"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypotonia-cystinuria syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:23:10.314Z