ORPHA:178389
Osteopetrosis-hypogammaglobulinemia syndrome
Also known as: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7
Publications
4,148
Trials
0
Interventional, condition-specific
Researchers
195
Distinct authors in sample
Gene link
TNFRSF11A
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, ) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.
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:0012859
- MeSH:C567354
- OMIM:612301
- UMLS:C2676766
Additional Mondo synonyms (7)
OPTB7 · TNFRSF11A osteopetrosis (disease) · autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · autosomal recessive osteopetrosis type 7 · osteopetrosis (disease) caused by mutation in TNFRSF11A · osteopetrosis, autosomal recessive type 7 · osteopetrosis-hypogammaglobulinemia syndrome
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — TNFRSF11A
- LiteraturePresent
4,148 matched papers (1,931 in last 10 years) Source
- Phenotype characterisedPresent
24 HPO annotations (e.g. Femur fracture; Anemia; Hydrocephalus) 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 trialPartial
None under the specific name; 17 for broader category osteopetrosis
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 (TNFRSF11A).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
24
Associated phenotypes · MONDO:0012859
- Femur fracture
- Anemia
- Hydrocephalus
- Recurrent pneumonia
- Decreased circulating IgG concentration
Showing 5 of 24 — 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?
4,148
4,148 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=3967) is 59.
4,148 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).
1,931 in the last 10 years · low confidence
Phrase hits: 26 · MeSH hits: 1
Who's working on it?
195
Distinct author names in 26 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.
- 01Brandi ML3 papers · 2023
Italian Bone Disease Research Foundation (FIRMO), Florence, Italy.
Papers in Europe PMC - 02Gregson 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 - 03Bergen DJM2 papers · 2023
School of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, UK.
Papers in Europe PMC - 04Duncan EL2 papers · 2023
Department of Twin Research & Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Papers in Europe PMC - 05Formosa MM2 papers · 2023
Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.
Papers in Europe PMC - 06Guo L2 papers · 2023
Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, China.
Papers in Europe PMC - 07Högler W2 papers · 2023
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
Papers in Europe PMC - 08Mäkitie O2 papers · 2023
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 09Maurizi A2 papers · 2023
Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Papers in Europe PMC - 10Sangiorgi L2 papers · 2023
Department of Rare Skeletal Diseases, IRCCS Rizzoli Orthopaedic Institute, Bologna, Italy.
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). 17 trials are registered for osteopetrosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
low 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.
17 interventional trials matched osteopetrosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: osteopetrosis
17
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
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Osteopetrosis-hypogammaglobulinemia syndrome — check Associations / patient organisations on that page.
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.
("Osteopetrosis-hypogammaglobulinemia syndrome" OR "Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" OR "Autosomal recessive osteopetrosis type 7" OR "OPTB7" OR "TNFRSF11A osteopetrosis (disease)" OR "osteopetrosis (disease) caused by mutation in TNFRSF11A" OR "osteopetrosis, autosomal recessive type 7") OR (MESH:"Osteopetrosis, Autosomal Recessive 7") OR ("TNFRSF11A" OR "TNFRSF11A syndrome" OR "TNFRSF11A-related")MeSH descriptor terms unioned into the query: Osteopetrosis, Autosomal Recessive 7
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteopetrosis-hypogammaglobulinemia syndrome" OR "Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" OR "Autosomal recessive osteopetrosis type 7" OR "OPTB7" OR "TNFRSF11A osteopetrosis (disease)" OR "osteopetrosis (disease) caused by mutation in TNFRSF11A" OR "osteopetrosis, autosomal recessive type 7" OR "Osteopetrosis, Autosomal Recessive 7"
Study-type breakdown: 0 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; 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
- Publication count (4148) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:50:24.405Z