ORPHA:445038
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Also known as: 3-methylglutaconic aciduria type 7 · MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome · MGA7
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
28
41.8th percentile
Trials
0
Interventional, condition-specific
Researchers
226
Distinct authors in sample
Gene link
CLPB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and neurologic manifestations, such as global , , , movement disorder, and . Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.
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:0014561
- OMIM:616271
- UMLS:C5676893
Additional Mondo synonyms (5)
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia · 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome · CLPB 3-methylglutaconic aciduria · MEGCANN · MGCA7
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.”
2/6 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 — CLPB
- LiteraturePresent
28 matched papers (27 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 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 (CLPB).
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?
28
28 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.
28 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).
27 in the last 10 years · medium confidence · 41.8th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 0
Who's working on it?
226
Distinct author names in 28 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.
- 01Shorter J5 papers · 2022
Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 02Cupo RR4 papers · 2022
Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 03
- 04Braun GA2 papers · 2022
Chemistry and Chemical Biology Graduate Program, Institute for Neurodegenerative Diseases, University of California, San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 05Chuang E2 papers · 2022
Department of Biochemistry and Biophysics, University of Pennsylvania, Philadelphia, PA, USA; Pharmacology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Papers in Europe PMC - 06Greenway SC2 papers · 2022
Departments of Pediatrics, Cardiac Sciences and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute and Libin Cardiovascular Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 07Halachev M2 papers · 2024
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, United Kingdom
Papers in Europe PMC - 08Khan A2 papers · 2022
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T3B 6A8, Canada.
Papers in Europe PMC - 09Liu Y2 papers · 2022
Department of Pediatrics, Dr. von Hauner Children's Hospital and Gene Center, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany.
Papers in Europe PMC - 10Meynert A2 papers · 2024
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, United Kingdom
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 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.
Broader category 3-methylglutaconic aciduria also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: 3-methylglutaconic aciduria
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 Organic acidemia 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.
"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome" OR "3-methylglutaconic aciduria type 7" OR "MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome" OR "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" OR "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" OR "CLPB 3-methylglutaconic aciduria" OR "MEGCANN" OR "MGCA7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome" OR "3-methylglutaconic aciduria type 7" OR "MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome" OR "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" OR "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" OR "CLPB 3-methylglutaconic aciduria" OR "MEGCANN" OR "MGCA7" OR "CLPB" OR "classic organic aciduria"
Recall-expansion terms: CLPB, classic organic aciduria
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"3-methylglutaconic aciduria"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MGA7
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 2026-07-27T16:30:17.492Z