Details of Disease | DrugMAP

General Information of Disease (ID: DISKNV1E)

Disease Name	Charcot-Marie-Tooth disease type 4H
Synonyms	Charcot-Marie-Tooth neuropathy, type 4H; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H; Charcot-Marie-Tooth disease, autosomal recessive, type 4H; Charcot-Marie-Tooth disease, type 4H; autosomal recessive Charcot-Marie-Tooth disease type 4H; CMT4H; Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4; FGD4 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth neuropathy type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Definition	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
Disease Hierarchy	DISM8IZN: Charcot-Marie-Tooth disease type 4 DISKNV1E: Charcot-Marie-Tooth disease type 4H
Disease Identifiers	MONDO ID MONDO_0012250 MESH ID C563740 UMLS CUI C1836336 OMIM ID 609311 MedGen ID 324487 Orphanet ID 99954 SNOMED CT ID 715802008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGD4	OTYXJQCW	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	[Nosogeography of intestinal infections in the Pskov region]. Tr Inst Im Pastera. 1976;45:87-93.