CMT4H
Chr 12ARCharcot-Marie-Tooth disease, type 4H
Primary Disease Associations & Inheritance
Charcot-Marie-Tooth disease, type 4HMIM #609311
AR
0
ClinVar variants
0
Pathogenic / LP
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pLI score
0
Active trials
Clinical Summary— CMT4H
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMT4H?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CMT4H · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; CMT4H
MIM #609311 · #
Autosomal recessive
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
Argente-Escrig H et al.·J Neurol Sci
2019Case report
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Hyun YS et al.·Ann Hum Genet
2015
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
Nishadham V et al.·J Neuromuscul Dis
2024Case report
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement.
Kondo D et al.·Neuromuscul Disord
2017Case report
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.
Fabrizi GM et al.·Neurology
2009Case report
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Boubaker C et al.·Ann Hum Genet
2013Case report
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
Arai H et al.·Neuromuscul Disord
2013Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
Baudot C et al.·J Peripher Nerv Syst
2012
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
Houlden H et al.·Neurology
2009
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools