Melnick-Needles Syndrome (MNS)

Melnick-Needles Syndrome(来自ICD-11)
别称:
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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基础信息

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参考文献
MALACARDS
XL
XLR
Child
<1/1000000
23
136
53

疾病表征

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靶点药物

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MGI
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