ORPHA:541423
Growth delay-intellectual disability-hepatopathy syndrome
Publications
183
66.6th percentile
Trials
0
Interventional, condition-specific
Researchers
95
Distinct authors in sample
Gene link
IARS1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disease characterized by severe intrauterine and post-natal growth delay, moderate to severe , and -onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular , zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
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:0014911
- OMIM:617093
- UMLS:C4310720
Additional Mondo synonyms (4)
GRIDHH · Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy · growth retardation, impaired intellectual development, hypotonia, and hepatopathy · growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH
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
Strong — IARS1
- LiteraturePresent
183 matched papers (182 in last 10 years) Source
- Phenotype characterisedPresent
69 HPO annotations (e.g. Decreased liver function; Elevated circulating alkaline phosphatase concentration; Hepatic fibrosis) 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 (IARS1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
69
Associated phenotypes · MONDO:0014911
- Decreased liver function
- Elevated circulating alkaline phosphatase concentration
- Hepatic fibrosis
- Hypoalbuminemia
- Hypoglycemia
Showing 5 of 69 — 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?
183
183 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=3967) is 59.
183 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).
182 in the last 10 years · high confidence · 66.6th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
95
Distinct author names in 12 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.
- 01
- 02Wang J2 papers · 2023
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Papers in Europe PMC - 03Wei X2 papers · 2021
Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.
Papers in Europe PMC - 04Antonellis A1 paper · 2025
Department of Human Genetics University of Michigan Ann Arbor Michigan USA.
Papers in Europe PMC - 05Carlens J1 paper · 2025
Clinic for Pediatric Pneumology, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 06Cavalcanti ARO1 paper · 2022
Department of Biology, Pomona College, Claremont, CA, United States.
Papers in Europe PMC - 07Chen L1 paper · 2023
Department of Neurology, The Second Affiliated Hospital of Harbin Medical University, City Harbin, Province Heilongjiang, China.
Papers in Europe PMC - 08Coller JM1 paper · 2019
Department of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Papers in Europe PMC - 09
- 10Dattner T1 paper · 2025
Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
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.
high 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).
Uncertain / not reviewed (3)
- ctis·2024-513724-42-00·Authorised, ongoing·An International Prospective Study in Children Older than 3 to 5 Years with Clinically Standard-Risk Medulloblastoma with Low-Risk Biological Profile (PNET 5 MB – LR and PNET 5 MB – WNT-HR), average-risk biological profile (PNET 5 MB -SR), or TP53 mutation, and registry for MB ocurring in the context of genetic predisposition
skipped — LLM skipped (--skip-llm)
- ctis·2024-516263-92-00·Expired·A Phase 3, Randomized, Open-Label, Multicenter Study to Evaluate the Safety (Compared to Iron Sucrose), Efficacy and Pharmacokinetics of Ferumoxytol for the Treatment of Iron Deficiency Anemia (IDA) in Pediatrics Subjects with Chronic Kidney Disease (CKD)
skipped — LLM skipped (--skip-llm)
- ctis·2022-500197-34-01·Authorised, ongoing·A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
skipped — LLM skipped (--skip-llm)
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 Growth delay-intellectual disability-hepatopathy syndrome — 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.
("Growth delay-intellectual disability-hepatopathy syndrome" OR "GRIDHH" OR "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" OR "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" OR "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH") OR ("IARS1" OR "IARS1 syndrome" OR "IARS1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Growth delay-intellectual disability-hepatopathy syndrome" OR "GRIDHH" OR "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" OR "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" OR "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T18:13:52.506Z