ORPHA:73272
Growth delay due to insulin-like growth factor type 1 deficiency
Also known as: Growth delay-deafness-intellectual disability syndrome · Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency · Primary insulin-like growth factor deficiency
Publications
1,125
Trials
10
Interventional, condition-specific
Researchers
1,129
Distinct authors in sample
Gene link
IGF1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
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:0012110
- MeSH:C563867
- OMIM:608747
- UMLS:C1837475
Additional Mondo synonyms (3)
growth delay-deafness- intellectual disability syndrome · growth retardation with deafness and mental retardation due to IGF1 deficiency · primary insulin-like growth factor deficiency
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
Definitive — IGF1
- LiteraturePresent
1,125 matched papers (717 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
10 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 (IGF1).
GenCC classification: Definitive.
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?
1,125
1,125 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=5449) is 41.
1,125 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).
717 in the last 10 years · low confidence
Phrase hits: 1,123 · MeSH hits: 2
Who's working on it?
1,129
Distinct author names in 200 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.
- 01Tarantini S15 papers · 2025
Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Papers in Europe PMC - 02Yabluchanskiy A15 papers · 2025
Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.
Papers in Europe PMC - 03Csiszar A13 papers · 2025
Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.
Papers in Europe PMC - 04Ungvari Z13 papers · 2025
Reynolds Oklahoma Center on Aging, Department of Geriatric Medicine, University of Oklahoma Health Sciences Center, 975 NE 10th Street, SLY-BRC 1303, Oklahoma City, OK, 73104, USA.
Papers in Europe PMC - 05Toth P9 papers · 2025
Vascular Cognitive Impairment, Neurodegeneration and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Papers in Europe PMC - 06Ungvari A9 papers · 2025
Institute of Preventive Medicine and Public Health, Semmelweis University, Budapest, Hungary. Ungann2004@gmail.com.
Papers in Europe PMC - 07Gulej R8 papers · 2025
Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Papers in Europe PMC - 08Li Y6 papers · 2025
Department of Emergency, Qingdao Central Hospital, University of Health and Rehabilitation Sciences, Qingdao, China.
Papers in Europe PMC - 09Patai R6 papers · 2025
Vascular Cognitive Impairment, Neurodegeneration, and Healthy Brain Aging Program, Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Papers in Europe PMC - 10Castilla-Cortázar I5 papers · 2024
Fundacion de Investigacion HM Hospitales, Madrid, Spain; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Ave. Morones Prieto 3000, Monterrey, N.L., Mexico, 64710. Electronic address: iccortazar@gmail.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
low confidence · 91.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 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.
Observational and natural-history studies
7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00903110·RECRUITING·Global Patient Registry to Monitor Long-term Safety and Effectiveness of Increlex® in Children and Adolescents With Severe Primary Insulin-like Growth Factor-1 Deficiency (SPIGFD).
Conditions: IGF1 Deficiency·Matched via recall expansion
- NCT07015554·ENROLLING BY INVITATION·Serum IGF1 on Female HFpEF Patients
Conditions: HFpEF - Heart Failure With Preserved Ejection Fraction·Matched via recall expansion
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.
"Growth delay due to insulin-like growth factor type 1 deficiency" OR "Growth delay-deafness-intellectual disability syndrome" OR "Growth delay-hearing loss-intellectual disability syndrome" OR "IGF-1 deficiency" OR "Primary insulin-like growth factor deficiency" OR "growth delay-deafness- intellectual disability syndrome" OR "growth retardation with deafness and mental retardation due to IGF1 deficiency"
MeSH descriptor terms unioned into the query: Insulin-Like Growth Factor I Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Growth delay due to insulin-like growth factor type 1 deficiency" OR "Growth delay-deafness-intellectual disability syndrome" OR "Growth delay-hearing loss-intellectual disability syndrome" OR "IGF-1 deficiency" OR "Primary insulin-like growth factor deficiency" OR "growth delay-deafness- intellectual disability syndrome" OR "growth retardation with deafness and mental retardation due to IGF1 deficiency" OR "Insulin-Like Growth Factor I Deficiency" OR "IGF1"
Recall-expansion terms: IGF1
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 10 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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
- Publication count (1125) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T01:45:26.835Z