Patau Syndrome (PATAU)

Patau Syndrome(来自ICD-11)
别称:
Trisomy 13
Complete Trisomy 13 Syndrome
Trisomy 13 Syndrome
Complete Trisomy 13
Patau's Syndrome
D1 Trisomy
Chromosome 13 Duplication
Bartholin-Patau Syndrome
D>1< Trisomy Syndrome
Chromosome 13 Trisomy
Abnormal Autosomes 13
D1 Trisomy Syndrome
Patau
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Patau Syndrome, also known as trisomy 13, is related to holoprosencephaly 1 and cystic lymphangioma. An important gene associated with Patau Syndrome is FOXO1 (Forkhead Box O1), and among its related pathways/superpathways are Nervous system development and 22q11.2 copy number variation syndrome. The drugs Chorionic Gonadotropin and Date Palm have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are seizure and hypotonia
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相关ID:
MESH:D000073839
ICD11:1045612388

基础信息

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参考文献
MALACARDS
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Antenatal
1-5/10000
28
382
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