Patau Syndrome (PATAU)

Alias:
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
Related Drugs
Disease Model
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
Related ID:
MESH:D000073839
ICD11:1045612388

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
1-9/100000
28
382
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Medical Symptom

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

Gene & Mutation

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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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