Neuropathy, Hereditary Sensory and Autonomic, Type V (HSAN5)

Alias:
Hsan5
Hereditary Sensory and Autonomic Neuropathy Type V
Hereditary Sensory and Autonomic Neuropathy Type 5
Congenital Insensitivity to Pain
Congenital Sensory Neuropathy with Selective Loss of Small Myelinated Fibers
Hsan V
Congenital Insensitivity to Pain and Thermal Analgesia
Hsan Type V
Hsan5 - [hereditary Sensory and Autonomic Neuropathy Type 5]
Neuropathy, Sensory and Autonomic, Hereditary, Type V
Hereditary Sensory and Autonomic Neuropathy, Type 5
Neuropathy, Hereditary Sensory and Autonomic, 5
Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Neuropathy Type V
Insensitivity to Pain, Congenital
Pain Insensitivity, Congenital
Hsn V
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory and Autonomic, Type V, also known as hsan5, is related to congenital insensitivity to pain-anosmia-neuropathic arthropathy and paroxysmal extreme pain disorder. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type V is NGF (Nerve Growth Factor), and among its related pathways/superpathways are Pleural mesothelioma and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Levobupivacaine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are abnormality of the dentition and intellectual disability, mild
Related ID:
MESH:D000699
ICD11:1411011731

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
16
194
14

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

Name
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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