46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs (SERKAL)

Alias:
Serkal Syndrome
Sex Reversion-Kidneys, Adrenal and Lung Dysgenesis Syndrome
Serkal
Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs, is also known as serkal syndrome. An important gene associated with 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs is WNT4 (Wnt Family Member 4). Affiliated tissues include lung and adrenal gland, and related phenotypes are growth delay and oligohydramnios
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
1
18
3

Medical Symptom

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

Gene & Mutation

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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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