ORPHA:140941
Short stature due to primary acid-labile subunit deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
140
Distinct authors in sample
Gene link
IGFALS
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.
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:0014420
- OMIM:615961
- UMLS:C3900122
Additional Mondo synonyms (1)
acid-labile subunit, deficiency of
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 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 — IGFALS
- LiteraturePresent
21 matched papers (11 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 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 (IGFALS).
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?
21
21 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.
21 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).
11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
140
Distinct author names in 21 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.
- 01Argente J4 papers · 2019
Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, CIBER de Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III and IMDEA Institute, Madrid, Spain.
Papers in Europe PMC - 02Domené HM4 papers · 2017
Endocrinology Research Center, Division of Endocrinology, R. Gutiérrez Children's Hospital, Buenos Aires, Argentina. hdomene@cedie.org.ar
Papers in Europe PMC - 03Jasper HG4 papers · 2017
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET -FEI - División de Endocrinología, Hospital de Niños "Ricardo Gutiérrez", Buenos Aires, Argentina.
Papers in Europe PMC - 04Hwa V3 papers · 2019
Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati Center for Growth Disorders, Cincinnati, Division of Endocrinology, Ohio, USA
Papers in Europe PMC - 05van Duyvenvoorde HA3 papers · 2025
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Papers in Europe PMC - 06Wit JM3 papers · 2025
Department of Paediatrics, Division of Pediatric Endocrinology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 07Bengolea SV2 papers · 2007Papers in Europe PMC
- 08Camacho-Hübner C2 papers · 2010Papers in Europe PMC
- 09Campos-Barros A2 papers · 2025
Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Papers in Europe PMC - 10Heath KE2 papers · 2013
Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Short stature due to primary acid-labile subunit deficiency" OR "acid-labile subunit, deficiency of"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Short stature due to primary acid-labile subunit deficiency" OR "acid-labile subunit, deficiency of" OR "IGFALS"
Recall-expansion terms: IGFALS
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T07:47:03.078Z