Perrault Syndrome

Alias:
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
Xx Gonodal Dysgenesis-Deafness Syndrome
Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance
Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance
Ovarian Dysgenesis with Sensorineural Deafness
Gonadal Dysgenesis, Xx Type, with Deafness
Gonadal Dysgenesis Xx Type Deafness
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Perrault Syndrome, also known as xx gonodal dysgenesis-hearing loss syndrome, is related to perrault syndrome 6 and perrault syndrome 4. An important gene associated with Perrault Syndrome is LARS2 (Leucyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Primary ovarian insufficiency and tRNA Aminoacylation. Affiliated tissues include testis and heart.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
63
274
47

Medical Symptom

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

Gene & Mutation

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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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