46 Xx Gonadal Dysgenesis (XX-GD)

Alias:
Hypergonadotropic Ovarian Dysgenesis
46,xx Complete Gonadal Dysgenesis
46,xx Pure Gonadal Dysgenesis
46,xx Gonadal Dysgenesis
Ovarian Dysgenesis
Follicular Stimulating Hormone-Resistant Ovaries
Xx Female Gonadal Dysgenesis
46,xx Ovarian Dysgenesis
Xx-Gd
Fsh-Ro - [follicular Stimulating Hormone-Resistant Ovaries]
Gonadal Dysgenesis, 46,xx
Resistant Ovary Syndrome
Dysgenesis, Ovarian
Dysgenetic Ovaries
Fsh-Ro
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46 Xx Gonadal Dysgenesis, also known as hypergonadotropic ovarian dysgenesis, is related to perrault syndrome 1 and perrault syndrome. An important gene associated with 46 Xx Gonadal Dysgenesis is MRPS22 (Mitochondrial Ribosomal Protein S22), and among its related pathways/superpathways are Primary ovarian insufficiency and Ovarian infertility. The drugs Clomifene and Pentoxifylline have been mentioned in the context of this disorder. Affiliated tissues include ovary and uterus, and related phenotypes are premature ovarian insufficiency and gonadal dysgenesis
Related ID:
MESH:D023961
ICD11:1742528605

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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82
459
1

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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