ORPHA:210110
Intermediate osteopetrosis
Also known as: Autosomal recessive intermediate osteopetrosis
Publications
54
45.2th percentile
Trials
1
Interventional, condition-specific
Researchers
356
Distinct authors in sample
Gene link
PLEKHM1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic primary bone with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012679
- MeSH:C566931
- OMIM:611497
- UMLS:C1969093
Additional Mondo synonyms (6)
OPTB6 · PLEKHM1 osteopetrosis (disease) · autosomal recessive intermediate osteopetrosis · autosomal recessive osteopetrosis type 6 · osteopetrosis (disease) caused by mutation in PLEKHM1 · osteopetrosis, autosomal recessive type 6
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
Strong — PLEKHM1
- LiteraturePresent
54 matched papers (32 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
1 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 (PLEKHM1).
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?
54
54 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.
54 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).
32 in the last 10 years · high confidence · 45.2th percentile (publications denominator)
Phrase hits: 54 · MeSH hits: 1
Who's working on it?
356
Distinct author names in 54 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.
- 01Villa A4 papers · 2021
San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan 20132, Italy.
Papers in Europe PMC - 02Brandi ML3 papers · 2023
Italian Bone Disease Research Foundation (FIRMO), Florence, Italy.
Papers in Europe PMC - 03Gregson CL3 papers · 2023
Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, Faculty of Health Sciences, University of Bristol, Bristol, UK.
Papers in Europe PMC - 04Pangrazio A3 papers · 2014
Institute of Biomedical Technologies, National Research Council, 20090 Segrate, Italy.
Papers in Europe PMC - 05Sangiorgi L3 papers · 2023
Department of Rare Skeletal Diseases, IRCCS Rizzoli Orthopaedic Institute, Bologna, Italy.
Papers in Europe PMC - 06Sobacchi C3 papers · 2014
UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy. Electronic address: cristina.sobacchi@humanitasresearch.it.
Papers in Europe PMC - 07Teti A3 papers · 2012Papers in Europe PMC
- 08Vezzoni P3 papers · 2014
UOS/IRGB, Milan Unit, CNR, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.
Papers in Europe PMC - 09Abinun M2 papers · 2010Papers in Europe PMC
- 10Bergen DJM2 papers · 2023
School of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 16 trials are registered for osteopetrosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
Broader category: osteopetrosis
16
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.
Recruiting under the broader category
- NCT07665021·RECRUITING·Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)
Conditions: Osteopetrosis·Matched via name phrase
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 2026-07-26Likely covered — the policy lists Osteopetrosis as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Intermediate osteopetrosis" OR "Autosomal recessive intermediate osteopetrosis" OR "OPTB6" OR "PLEKHM1 osteopetrosis (disease)" OR "autosomal recessive osteopetrosis type 6" OR "osteopetrosis (disease) caused by mutation in PLEKHM1" OR "osteopetrosis, autosomal recessive type 6"
MeSH descriptor terms unioned into the query: Osteopetrosis, Autosomal Recessive 6
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intermediate osteopetrosis" OR "Autosomal recessive intermediate osteopetrosis" OR "OPTB6" OR "PLEKHM1 osteopetrosis (disease)" OR "autosomal recessive osteopetrosis type 6" OR "osteopetrosis (disease) caused by mutation in PLEKHM1" OR "osteopetrosis, autosomal recessive type 6" OR "Osteopetrosis, Autosomal Recessive 6" OR "PLEKHM1"
Recall-expansion terms: PLEKHM1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"osteopetrosis"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T09:28:31.510Z