Neuropathy, Hereditary Sensory and Autonomic, Type Iia (HSAN2A)

Alias:
Hereditary Sensory and Autonomic Neuropathy Type 2
Hereditary Sensory and Autonomic Neuropathy Type Ii
Hsan2
Hsan2a
Neurogenic Acroosteolysis
Morvan Syndrome
Morvan Disease
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Neuropathy, Hereditary Sensory and Autonomic, Type Ii
Neuropathy, Hereditary Sensory and Autonomic, Type 2a
Hereditary Sensory and Autonomic Neuropathy Type Iia
Hereditary Sensory and Autonomic Neuropathy Type 2a
Autosomal Recessive Sensory Radicular Neuropathy
Congenital Sensory Neuropathy
Morvan Fibrillary Chorea
Hsan Type Ii
Hsan Iia
Hsn Iia
Hsanii
Hsn2a
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
Neuropathy, Sensory and Autonomic, Hereditary, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type Iib
Neuropathy, Hereditary Sensory and Autonomic, 2a
Hereditary Motor and Sensory-Neuropathy Type Ii
Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy Type 2
Neuropathy, Progressive Sensory, of Children
Progressive Sensory Neuropathy of Children
Neuropathy, Hereditary Sensory, Type Iia
Hereditary Sensory Neuropathy Type Iia
Neuropathy, Congenital Sensory
Sensory Neuropathy, Hereditary
Neuropathy Congenital Sensory
Acroosteolysis, Giaccai Type
Charcot-Marie-Tooth Disease
Acroosteolysis Giaccai Type
Acroosteolysis, Neurogenic
Acroosteolysis Neurogenic
Morvan's Disease
Hsn Type Ii
Hsan2b
Hsan2c
Hsan2d
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory and Autonomic, Type Iia, also known as hereditary sensory and autonomic neuropathy type 2, is related to charcot-marie-tooth disease and neuropathy, congenital hypomyelinating, 1, autosomal recessive. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iia is WNK1 (WNK Lysine Deficient Protein Kinase 1), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and tongue, and related phenotypes are hyperhidrosis and hyperlordosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
40
358
80

Medical Symptom

#
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

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
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