Perrault Syndrome 1 (PRLTS1)

Alias:

Ovarian Dysgenesis with Sensorineural Deafness

Gonadal Dysgenesis Xx Type Deafness

Prlts1

Xx Gonadal Dysgenesis-Deafness Syndrome-Without Neurological Manifestations

Gonadal Dysgenesis, Xx Type, with Deafness

Gonadal Dysgenesis Xx Type with Deafness

Perrault Syndrome Type 1

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Perrault Syndrome 1, also known as ovarian dysgenesis with sensorineural deafness, is related to d-bifunctional protein deficiency and perrault syndrome 2. An important gene associated with Perrault Syndrome 1 is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4), and among its related pathways/superpathways is Primary ovarian insufficiency. Affiliated tissues include ovary, and related phenotypes are motor delay and areflexia

Related ID：

MALACARDS：PRR020

OMIM：233400

MESH：D006319