Charcot-Marie-Tooth Disease, Dominant Intermediate E (CMTDIE)

Alias:
Charcot-Marie-Tooth Disease Dominant Intermediate E
Cmtdie
Charcot-Marie-Tooth Neuropathy with Focal Segmental Glomerulonephritis
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
Charcot-Marie-Tooth Disease-Nephropathy Syndrome
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Dominant Intermediate E, also known as charcot-marie-tooth disease dominant intermediate e, is related to hereditary sensory neuropathy and charcot-marie-tooth disease intermediate type. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate E is INF2 (Inverted Formin 2), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include kidney, and related phenotypes are proteinuria and areflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
No data available Phase
<1/1000000
11
57
24

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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