Charcot-Marie-Tooth Disease, Type 4h (CMT4H)

Alias:

Charcot-Marie-Tooth Disease Type 4h

Cmt4h

Charcot-Marie-Tooth Neuropathy Type 4h

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Neuropathy, Type 4h

Charcot-Marie-Tooth Disease 4h

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Type 4h, also known as charcot-marie-tooth disease type 4h, is related to hereditary sensory neuropathy and hereditary neuropathies, and has symptoms including waddling gait An important gene associated with Charcot-Marie-Tooth Disease, Type 4h is FGD4 (FYVE, RhoGEF And PH Domain Containing 4), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and RAC1 GTPase cycle. Affiliated tissues include peripheral nerve, and related phenotypes are motor delay and areflexia

Related ID：

MALACARDS：CHR421

OMIM：609311

MESH：D002607