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ORPHA:667

Autosomal recessive malignant osteopetrosis

medium confidenceDisorder

Also known as: Infantile malignant osteopetrosis

Publications

1,999

88.4th percentile

Trials

2

Interventional, condition-specific

Researchers

1,158

Distinct authors in sample

Gene link

TCIRG1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of bone resorption characterized by generalized skeletal densification.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

OPTB · autosomal recessive malignant osteopetrosis · autosomal recessive osteopetrosis · autosomal recessive osteopetrosis (disease) · infantile malignant osteopetrosis · osteopetrosis (disease), autosomal recessive

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TCIRG1

  2. LiteraturePresent

    1,999 matched papers (1,228 in last 10 years) Source

  3. Phenotype characterisedPresent

    343 HPO annotations (e.g. Hearing impairment; Otitis media; Visual impairment) Source

  4. Animal modelPresent

    16 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. Interferon gamma-1b Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (TCIRG1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

343

Associated phenotypes · MONDO:0019026

  • Hearing impairment
  • Otitis media
  • Visual impairment
  • Anemia
  • Hepatomegaly

Showing 5 of 343 — open Monarch for the full list.

Animal models (Monarch / Alliance)

16

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA Interferon gamma-1b (Actimmune)Disease Progression Malignant Osteopetrosis · 1996-09-30

Sources: FDA OOPD · EMA orphan designations

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?

1,999

1,999 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.

1,999 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).

1,228 in the last 10 years · medium confidence · 88.4th percentile (publications denominator)

Phrase hits: 959 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,158

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.

  1. 01
    Villa A10 papers · 2025

    CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy.

    Papers in Europe PMC
  2. 02
    Sobacchi C9 papers · 2026

    CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy.

    Papers in Europe PMC
  3. 03
    Kornak U8 papers · 2025

    Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address: uwe.kornak@charite.de.

    Papers in Europe PMC
  4. 04
    Capo V6 papers · 2025

    San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute.

    Papers in Europe PMC
  5. 05
    Imel EA6 papers · 2025

    Departments of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA; Departments of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  6. 06
    Wang J6 papers · 2026

    Department of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.

    Papers in Europe PMC
  7. 07
    Econs MJ5 papers · 2025

    Departments of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  8. 08
    Elson A5 papers · 2025

    Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address: ari.elson@weizmann.ac.il.

    Papers in Europe PMC
  9. 09
    Geiger B5 papers · 2025

    Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address: Benny.geiger@weizmann.ac.il.

    Papers in Europe PMC
  10. 10
    Palagano E5 papers · 2024

    CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 15 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 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: osteopetrosis

15

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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Autosomal recessive malignant osteopetrosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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.

("Autosomal recessive malignant osteopetrosis" OR "Infantile malignant osteopetrosis" OR "autosomal recessive osteopetrosis" OR "autosomal recessive osteopetrosis (disease)" OR "osteopetrosis (disease), autosomal recessive") OR ("TCIRG1" OR "TCIRG1 syndrome" OR "TCIRG1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal recessive malignant osteopetrosis" OR "Infantile malignant osteopetrosis" OR "autosomal recessive osteopetrosis" OR "autosomal recessive osteopetrosis (disease)" OR "osteopetrosis (disease), autosomal recessive"

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"osteopetrosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OPTB

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:49:41.382Z