Charcot-Marie-Tooth Disease, Type 4d (CMT4D)

Alias:
Charcot-Marie-Tooth Disease Type 4d
Cmt4d
Hmsn4d
Hmsnl
Neuropathy, Hereditary Motor and Sensory, Lom Type
Hereditary Motor and Sensory Neuropathy Lom Type
Charcot-Marie-Tooth Neuropathy Type 4d
Hmsn-Lom
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
Hereditary Motor and Sensory Neuropathy, Lom Type
Hereditary Motor and Sensory Neuropathy Ivd
Charcot-Marie-Tooth Neuropathy, Type 4d
Charcot-Marie-Tooth Disease 4d
Hmsn, Lom Type
Hmsn Lom Type
Hmsn Ivd
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Type 4d, also known as charcot-marie-tooth disease type 4d, is related to hereditary sensory neuropathy and hereditary neuropathies. An important gene associated with Charcot-Marie-Tooth Disease, Type 4d is NDRG1 (N-Myc Downstream Regulated 1), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. Affiliated tissues include tongue and bone, and related phenotypes are decreased motor nerve conduction velocity and distal lower limb muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
15
110
13

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top