Melnick-Needles Syndrome (MNS)

Alias:
Melnick-Needles Osteodysplasty
Mns
Osteodysplasty of Melnick and Needles
Osteochondrodysplasias
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Melnick-Needles Syndrome, also known as melnick-needles osteodysplasty, is related to otopalatodigital syndrome, type i and frank-ter haar syndrome, and has symptoms including hoarseness An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and MAPK signaling pathway. The drugs Valproic acid and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and prominent supraorbital ridges
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Child
<1/1000000
23
136
53

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
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IF
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