Three M Syndrome 1 (3M1)

Three M Syndrome 1(来自ICD-11)
别称:
3-M Syndrome
Yakut Short Stature Syndrome
3m Syndrome
Dolichospondylic Dysplasia
Gloomy Face Syndrome
Le Merrer Syndrome
Three M Syndrome
3m Syndrome 1
Miller-Mckusick-Malvaux Syndrome
Miller-Mckusick-Malvaux-Syndrome
3m1
Three-M Slender-Boned Nanism
Dwarfism Tall Vertebrae
3m Syndrome, Type 1
3-M Syndrome 1
3m Syndrome-1
Dwarfism
3-Msbn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Three M Syndrome 1, also known as 3-m syndrome, is related to isolated growth hormone deficiency, type ia and insulin-like growth factor i, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Three M Syndrome 1 is CUL7 (Cullin 7), and among its related pathways/superpathways are Metabolism of proteins and Class I MHC mediated antigen processing and presentation. The drugs Anastrozole and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are frontal bossing and short neck
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参考文献
MALACARDS
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靶点药物

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MGI
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