ORPHA:456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Also known as: IMNEPD
Publications
283
70.1th percentile
Trials
0
Interventional, condition-specific
Researchers
395
Distinct authors in sample
Gene link
PTRH2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multisystemic syndrome characterized by global , postnatal microcephaly, , , sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include , growth retardation, peripheral demyelinating , facial features, and additional endocrine abnormalities. Brain imaging may show cerebellar atrophy in some patients.
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:8000012
- OMIM:616263
- UMLS:C4015728
Additional Mondo synonyms (1)
infantile-onset multisystem neurologic, endocrine, and pancreatic disease
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
Definitive — PTRH2
- LiteraturePresent
283 matched papers (225 in last 10 years) Source
- Phenotype characterisedPresent
91 HPO annotations (e.g. Sensorineural hearing impairment; Abnormal facial shape; Distal amyotrophy) 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 (PTRH2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
91
Associated phenotypes · MONDO:8000012
- Sensorineural hearing impairment
- Abnormal facial shape
- Distal amyotrophy
- Thin upper lip vermilion
- Brachycephaly
Showing 5 of 91 — 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?
283
283 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.
283 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).
225 in the last 10 years · medium confidence · 70.1th percentile (publications denominator)
Phrase hits: 42 · MeSH hits: 0
Who's working on it?
395
Distinct author names in 42 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.
- 01Matter ML5 papers · 2025
John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813 USA University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI 96813 USA matter@hawaii.edu.
Papers in Europe PMC - 02Ramos JW4 papers · 2025
University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI 96813 USA.
Papers in Europe PMC - 03Kaindl AM3 papers · 2023
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany ; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany.
Papers in Europe PMC - 04Kraemer N3 papers · 2023
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin Berlin, Germany ; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin Berlin, Germany.
Papers in Europe PMC - 05Aan FJ2 papers · 2025
Department of Biochemistry and Molecular Biology, Tulane University School of Medicine, New Orleans, LA, USA.
Papers in Europe PMC - 06de la Vega M2 papers · 2015
University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI 96813 USA.
Papers in Europe PMC - 07Glibetic N2 papers · 2025
Department of Biochemistry and Molecular Biology, Tulane University School of Medicine, New Orleans, LA, USA.
Papers in Europe PMC - 08Jain S2 papers · 2024
Department of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
Papers in Europe PMC - 09Jijiwa M2 papers · 2015
University of Hawaii Cancer Center, University of Hawaii, Honolulu, HI 96813 USA.
Papers in Europe PMC - 10Kim Y2 papers · 2026
Interdisciplinary Program in Neuroscience, Seoul National University, Seoul, 08826, Korea.
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.
medium 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2025-524213-84-00·Authorised·TAILORswitch (PADA-2): rising ctDNA to tailor endocrine therapy switch in patients with ER+/HER2- metastatic breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524761-25-00·Authorised·The impact of ovarian stimulation with hMG on embryo quality in advanced age women. A randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521982-29-00·Authorised·UNLOCK - EPIBREAST, a phase II study of prifetrastat (PF-07248144), a KAT6 inhibitor, plus fulvestrant for advanced HR+/HER2- breast cancer with biomarkers analysis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524214-28-00·Authorised, recruiting·Randomized, Placebo-Controlled, Double-Blind, Phase 3b Study to Evaluate the Efficacy and Safety of Lerodalcibep in Children and Adolescents, 6 to 17 Years of Age, with Heterozygous Familial Hypercholesterolemia on Stable Diet and Oral Lipid-Lowering Therapy (LIBerate-Kids)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524896-22-00·Authorised, ongoing·A Randomized, Placebo-Controlled, Double-Blind, Parallel-Group, Multicenter Trial Evaluating the Effects of Two Dosing Regimens of Nolasiban on Uterine Contractility and Endocrine Parameters
skipped — LLM skipped (--skip-llm)
- ctis·2025-523683-20-00·Authorised·NoELA_No Endocrine therapy in small HR+ HER2- low relapse risk Luminal A early breast cancer, a single-arm de-escalation trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521911-38-00·Authorised, recruiting·An open-label, multi-center, phase I/II study of GVV858 as a single agent and in combination with endocrine therapy in patients with advanced hormone receptor positive, HER2-negative breast cancer and other advanced solid tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-523013-28-00·Authorised, ongoing·A Phase II, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of Inavolisib plus Ribociclib plus Fulvestrant Versus Placebo plus Ribociclib plus Fulvestrant in Patients with Endocrine-Resistant Hormone-Receptor-Positive, HER2-Negative Advanced Breast Cancer with Chromosome 8P Loss and Without a PIK3CA Mutation
skipped — LLM skipped (--skip-llm)
- ctis·2025-522484-15-00·Authorised, recruiting·Adjuvant Dynamic marker - Adjusted Personalized Therapy comparing adjuvant Elacestrant with standard endocrine treatment in genomically and/or clinically high-risk ER+/HER2- early breast cancer (ADAPTela)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521560-36-00·Authorised, ongoing·A Phase 2b, Randomised, Double-Blind, Placebo-Controlled, Parallel-Arm Dose Finding Study Evaluating the Efficacy and Safety of SAB-142 for Delaying the Progression of Type 1 Diabetes (T1D) in Patients with Stage 3 New Onset of Type 1 Diabetes (NOT1D)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521904-23-00·Authorised, ongoing·An Open-label, Multinational Study Assessing the Efficacy and Safety of Dato-DXd Treatment in Patients With HR-positive, HER2 IHC 0, Locally Advanced Inoperable or Metastatic Breast Cancer Refractory to Endocrine Therapy (TROPION-Breast06)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521385-10-00·Authorised·ENDO-67 project: Investigating ENDOcrine therapy-related questions using Ki67 changes in the window-of-opportunity before breast surgery
skipped — LLM skipped (--skip-llm)
- ctis·2025-522472-85-00·Authorised, ongoing·Toripalimab plus chemotherapy as first-line treatment for recurrent and/or metastatic nasopharyngeal cancer: safety and activity in non-endemic population
skipped — LLM skipped (--skip-llm)
- ctis·2024-517281-42-00·Authorised, ongoing·An Open-label, Multi-center, Phase I/II Study of ECI830 as a Single Agent and in Combination With Ribociclib and Endocrine Therapy in Patients With Advanced Hormone Receptor Positive, HER2-negative Breast Cancer and Advanced Solid Tumors
skipped — LLM skipped (--skip-llm)
- ctis·2022-503001-38-01·Expired·A phase IIIb study to characterize the efficacy and safety of Adjuvant ribociclib plus endocrine therapy in a close-to-clinical practice patient population with HR+ HER2− early breast cancer (Adjuvant WIDER)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512360-55-00·Authorised, ongoing·A randomized phase II study to evaluate the safety and efficacy of trastuzumab deruxtecan versus CDK4/6 inhibitor-based endocrine therapy as first-line therapy of HR-positive and HER2-low/ultra-low advanced breast cancer patients classified as non-luminal subtype according to gene expression profiling (The PONTIAC Study).
skipped — LLM skipped (--skip-llm)
- ctis·2024-519417-57-00·Expired·A randomized, double-masked, controlled, safety and tolerability study of VRDN-003 in participants with thyroid eye disease (TED)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511392-15-00·Authorised, ongoing·An interventional, open-label, phase III study to evaluate the safety, efficacy, and impact on quality of life of capivasertib alongside standard-of-care endocrine treatment in patients with HR+/HER2- advanced breast cancer and progression on prior endocrine-based treatment (CAPIcorn)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515349-41-00·Authorised, ongoing·SAFIR 03 - LibHERty: A ctDNA screening program in patients with HR+, HER2 low metastatic breast cancer for detection of high-risk relapse patients on any CDK4/6 inhibitor followed by a single arm phase II trial of trastuzumab-deruxtecan in patients with persistent ctDNA after 1 month of treatment with endocrine therapy combined with CDK4/6 inhibitor
skipped — LLM skipped (--skip-llm)
- ctis·2023-505758-17-00·Expired·ABCSG 63 / ERIKA: Elacestrant and RIbociclib in Ki67-tested endocrine responsive breAst cancer: An open-label, two-arm, randomized, phase II study of elacestrant plus ribociclib vs. AI (plus GnRH agonist in pre-/perimenopausal women and men) plus ribociclib as neoadjuvant therapy for endocrine-responsive HER2-negative early breast cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-517755-12-00·Authorised, recruiting·Testosterone Replacement Therapy in Women with Turner Syndrome – Endocrine, Cardiovascular, Physiological, Neurocognitive and Genomic effects
skipped — LLM skipped (--skip-llm)
- ctis·2024-516162-11-00·Authorised, ongoing·A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of Inavolisib Plus a CDK4/6 Inhibitor and Letrozole Versus Placebo Plus a CDK4/6 Inhibitor and Letrozole in Patients with Endocrine-Sensitive PIK3CA -Mutated, Hormone Receptor-Positive, HER2- Negative Advanced Breast Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-515445-42-00·Authorised, recruiting·Elacestrant versus Standard Endocrine Therapy in Women and Men with Node positive, Estrogen Receptor-positive, HER2-negative, Early Breast Cancer with High Risk of Recurrence - A Global, Multicenter, Randomized, Open-label Phase 3 Study (ELEGANT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513442-10-00·11·EORTC 2237-BCG-QLG: Improvement of Quality of Life through supportive treatments for Endocrine Therapy – related symptoms in patients with early Breast cancer; A pragmatic randomized Controlled Trial (QOL-ET-BC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514973-23-00·Expired·VRDN-003-302: A phase 3, randomized, double-masked, placebo-controlled, efficacy, safety, and tolerability study of VRDN-003 in participants with chronic thyroid eye disease (TED)
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 Infantile multisystem neurologic-endocrine-pancreatic disease — 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.
("Infantile multisystem neurologic-endocrine-pancreatic disease" OR "IMNEPD" OR "infantile-onset multisystem neurologic, endocrine, and pancreatic disease") OR ("PTRH2" OR "PTRH2 syndrome" OR "PTRH2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile multisystem neurologic-endocrine-pancreatic disease" OR "IMNEPD" OR "infantile-onset multisystem neurologic, endocrine, and pancreatic disease"
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
- Publication count (283) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T16:44:58.862Z