Charcot-Marie-Tooth Disease, Demyelinating, Type 1h (CMT1H)

Alias:

Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration

Hereditary Motor and Sensory Neuropathy, Ih

Charcot-Marie-Tooth Neuropathy, Type 1h

Hnarmd

Cmt1h

Charcot-Marie-Tooth Disease, Demyelinating, Iia 1h

Charcot-Marie-Tooth Disease, Demyelinating, 1h

Macular Degeneration, Age-Related, 3

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Demyelinating, Type 1h, also known as neuropathy, hereditary, with or without age-related macular degeneration, is related to macular degeneration, age-related, 3. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1h is FBLN5 (Fibulin 5). Affiliated tissues include skin, and related phenotypes are distal sensory impairment and distal lower limb muscle weakness

Related ID：

MALACARDS：CHR725

OMIM：619764

MESH：D002607