Cafe-Au-Lait Spots, Multiple (NF6)

Alias:
Cafe Au Lait Spots, Multiple
Neurofibromatosis Type 6
Nf6
Multiple Isolated Cafe-Au-Lait Syndrome
Familial Isolated Cafe-Au-Lait Macules
Familial Isolated Cafe-Au-Lait Spots
Multiple Isolated Cafe-Au-Lait Spots
Multiple Café-Au-Lait Syndrome
Familial Café-Au-Lait Spots
Multiple Café-Au-Lait Spots
Familial Calms Isolated
Familial Isolated Calss
Cals Syndrome Isolated
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cafe-Au-Lait Spots, Multiple, also known as cafe au lait spots, multiple, is related to hyperpigmentation with or without hypopigmentation, familial progressive and fibromatosis multiple non ossifying. An important gene associated with Cafe-Au-Lait Spots, Multiple is NF1 (Neurofibromin 1). Affiliated tissues include skin and small intestine, and related phenotypes are multiple cafe-au-lait spots and freckling

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
1
21
6

Medical Symptom

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

Gene & Mutation

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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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