Details of Disease

General Information of Disease (ID: DIS23T23)

Disease Name Charcot-Marie-Tooth disease type 4J
Synonyms
Charcot-Marie-Tooth disease, autosomal recessive, type 4J; Charcot-Marie-Tooth disease, type 4J; FIG4 Charcot-Marie-Tooth disease type 4; autosomal recessive Charcot-Marie-Tooth disease type 4J; Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4; CMT4J
Definition Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Disease Hierarchy
DISM8IZN: Charcot-Marie-Tooth disease type 4
DIS23T23: Charcot-Marie-Tooth disease type 4J
Disease Identifiers
MONDO ID
MONDO_0012640
MESH ID
C566984
UMLS CUI
C1970011
OMIM ID
611228
MedGen ID
370808
Orphanet ID
139515
SNOMED CT ID
720638000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MCM3AP OT895FEC Strong Biomarker [1]
FIG4 OT501PY9 Definitive Autosomal recessive [2]
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References

1 Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.Mol Neurobiol. 2019 Dec;56(12):8656-8667. doi: 10.1007/s12035-019-01693-8. Epub 2019 Jul 16.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.