ORPHA:2785
Osteopetrosis with renal tubular acidosis
Also known as: Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome · Marble brain disease · Mixed RTA · Mixed renal tubular acidosis · Renal tubular acidosis type 3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
307
69.1th percentile
Trials
0
Interventional, condition-specific
Researchers
938
Distinct authors in sample
Gene link
CA2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Osteopetrosis with renal tubular is a rare disorder characterized by osteopetrosis, renal tubular (RTA), and neurological disorders related to cerebral calcifications.
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:0009818
- MeSH:C536058
- OMIM:259730
- UMLS:C0345407
- NCIT:C118438
Additional Mondo synonyms (14)
Autosomal Recessive osteopetrosis, type 3 · CA2 osteopetrosis (disease) · OPTB3 · autosomal recessive osteopetrosis type 3 · carbonic anhydrase 2 deficiency · carbonic anhydrase II deficiency · marble brain disease · mixed RTA · mixed renal tubular acidosis · osteopetrosis (disease) caused by mutation in CA2 · osteopetrosis with renal tubular acidosis · osteopetrosis, autosomal recessive 3, with renal tubular acidosis · osteopetrosis, autosomal recessive type 3 · renal tubular acidosis type 3
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CA2
- LiteraturePresent
307 matched papers (117 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 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 (CA2).
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?
307
307 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.
307 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).
117 in the last 10 years · medium confidence · 69.1th percentile (publications denominator)
Phrase hits: 307 · MeSH hits: 0
Who's working on it?
938
Distinct author names in 200 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.
- 01Sly WS16 papers · 2004Papers in Europe PMC
- 02Whyte MP8 papers · 2023
Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine St. Louis MO USA.
Papers in Europe PMC - 03Tashian RE6 papers · 1994Papers in Europe PMC
- 04Aramaki S4 papers · 1998
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Papers in Europe PMC - 05Hu PY4 papers · 2004
Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, Missouri, USA.
Papers in Europe PMC - 06Singh A4 papers · 2021
Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Papers in Europe PMC - 07Strisciuglio P4 papers · 2004
Department of Pediatrics, Faculty of Medicine, University of Reggio Calabria, Italy.
Papers in Europe PMC - 08Yang Y4 papers · 2023
Division of Endocrinology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 09Yoshida I4 papers · 1999Papers in Europe PMC
- 10Almstedt K3 papers · 2009
IFM-Department of Chemistry, Linköping University, 581 83 Linköping, Sweden.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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
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.
"Osteopetrosis with renal tubular acidosis" OR "Carbonic anhydrase 2 deficiency" OR "Guibaud-Vainsel syndrome" OR "Marble brain disease" OR "Mixed RTA" OR "Mixed renal tubular acidosis" OR "Renal tubular acidosis type 3" OR "Autosomal Recessive osteopetrosis, type 3" OR "CA2 osteopetrosis (disease)" OR "OPTB3" OR "autosomal recessive osteopetrosis type 3" OR "carbonic anhydrase II deficiency" OR "osteopetrosis (disease) caused by mutation in CA2" OR "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" OR "osteopetrosis, autosomal recessive type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteopetrosis with renal tubular acidosis" OR "Carbonic anhydrase 2 deficiency" OR "Guibaud-Vainsel syndrome" OR "Marble brain disease" OR "Mixed RTA" OR "Mixed renal tubular acidosis" OR "Renal tubular acidosis type 3" OR "Autosomal Recessive osteopetrosis, type 3" OR "CA2 osteopetrosis (disease)" OR "OPTB3" OR "autosomal recessive osteopetrosis type 3" OR "carbonic anhydrase II deficiency" OR "osteopetrosis (disease) caused by mutation in CA2" OR "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" OR "osteopetrosis, autosomal recessive type 3" OR "CA2"
Recall-expansion terms: CA2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"osteopetrosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (307) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T21:11:26.759Z