ORPHA:254334
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Also known as: RI-CMT type B
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
97
Distinct authors in sample
Gene link
KARS1
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare subtype of intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT associated with , self-abusive behavior, features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
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:0013338
- OMIM:613641
- UMLS:C3150897
Additional Mondo synonyms (7)
CMTRIB · Charcot-Marie-Tooth disease caused by mutation in KARS · Charcot-Marie-Tooth disease recessive intermediate type B · Charcot-Marie-Tooth disease, recessive Intermediate type B · KARS Charcot-Marie-Tooth disease · RI-CMTB · autosomal recessive intermediate Charcot-Marie-Tooth disease type B
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
Moderate — KARS1
- LiteraturePresent
21 matched papers (12 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?
Probably — there is moderate evidence for KARS1.
GenCC classification: Moderate.
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?
21
21 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.
21 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
97
Distinct author names in 21 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.
- 01Antonellis A3 papers · 2017
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.
Papers in Europe PMC - 02Griffin LB2 papers · 2017
Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States; Medical Scientist Training Program, and University of Michigan Medical School, Ann Arbor, MI, United States.
Papers in Europe PMC - 03Jordanova A2 papers · 2017
From the Department of Neurology (W.W.M., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Cellular and Molecular Biology Program (L.B.G., A.A.), Medical Science Training Program (L.B.G.), and the Departments of Human Genetics (A.A.) and Neurology (A.A.), University of Michigan Medical School, Ann Arbor; the Neurogenetics Group (I.M., J.B., P.D.J.) and the Molecular Neurogenomics Group (E.D.V., A.J.), VIB, Department of Molecular Genetics, University of Antwerp; the Neurogenetics Laboratory (I.M., J.B., E.D.V., P.D.J., A.J.), Institute Born-Bunge, University of Antwerp; and the Department of Neurology (J.B., P.D.J.), Antwerp University Hospital, Belgium.
Papers in Europe PMC - 04Abbott JA1 paper · 2014
Department of Biochemistry, College of Medicine, University of Vermont Burlington, VT, USA.
Papers in Europe PMC - 05Álvarez-Paradelo S1 paper · 2017
Service of Clinical Neurophysiology, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Universidad de Cantabria (UC), and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.
Papers in Europe PMC - 06Ascano M1 paper · 2014Papers in Europe PMC
- 07Baets J1 paper · 2015
From the Department of Neurology (W.W.M., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Cellular and Molecular Biology Program (L.B.G., A.A.), Medical Science Training Program (L.B.G.), and the Departments of Human Genetics (A.A.) and Neurology (A.A.), University of Michigan Medical School, Ann Arbor; the Neurogenetics Group (I.M., J.B., P.D.J.) and the Molecular Neurogenomics Group (E.D.V., A.J.), VIB, Department of Molecular Genetics, University of Antwerp; the Neurogenetics Laboratory (I.M., J.B., E.D.V., P.D.J., A.J.), Institute Born-Bunge, University of Antwerp; and the Department of Neurology (J.B., P.D.J.), Antwerp University Hospital, Belgium.
Papers in Europe PMC - 08Baruffini E1 paper · 2021
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 09Battaloğlu E1 paper · 2022
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Papers in Europe PMC - 10Beg AA1 paper · 2017
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, United States.
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.
high 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 autosomal recessive intermediate Charcot-Marie-Tooth disease 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: autosomal recessive intermediate Charcot-Marie-Tooth disease
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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 intermediate Charcot-Marie-Tooth disease type B" OR "RI-CMT type B" OR "CMTRIB" OR "Charcot-Marie-Tooth disease recessive intermediate type B" OR "Charcot-Marie-Tooth disease, recessive Intermediate type B" OR "KARS Charcot-Marie-Tooth disease" OR "RI-CMTB"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B" OR "RI-CMT type B" OR "CMTRIB" OR "Charcot-Marie-Tooth disease recessive intermediate type B" OR "Charcot-Marie-Tooth disease, recessive Intermediate type B" OR "KARS Charcot-Marie-Tooth disease" OR "RI-CMTB" OR "KARS1"
Recall-expansion terms: KARS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive intermediate Charcot-Marie-Tooth disease"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in KARS
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 2026-07-27T11:01:29.897Z