Neurofibromatosis, Type I (NF1)

Alias:
Von Recklinghausen Disease
Neurofibromatosis 1
Nf1
Neurofibromatosis, Type 1
Neurofibromatosis Type 1
Neurofibromatosis Type 1 Due to Nf1 Mutation or Intragenic Deletion
Neurofibromatosis, Peripheral Type
Peripheral Neurofibromatosis
Neurofibromatosis Type I
Von Recklinghausen Disease Due to Nf1 Mutation or Intragenic Deletion
Von Recklinghausen's Neurofibromatosis
Recklinghausen's Neurofibromatosis
Nonmosaic Neurofibromatosis Type 1
Peripheral Type Neurofibromatosis
Neurofibromatosis Peripheral Type
Nf1 - [neurofibromatosis Type 1]
Recklinghausen Disease, Nerve
Von Recklinghausen Neuropathy
Von Recklinghausen Syndrome
Recklinghausen Disease
Nonmosaic Nf1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurofibromatosis, Type I, also known as von recklinghausen disease, is related to neurofibroma and legius syndrome, and has symptoms including neuralgia An important gene associated with Neurofibromatosis, Type I is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and delayed puberty
Related ID:
MESH:D009456
ICD11:337970533

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
1-5/10000
55
1065
847

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

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PMID
Journal
Year
IF
No Data Found!
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