Stuve-Wiedemann Syndrome 1 (STWS1)

Stuve-Wiedemann Syndrome 1(来自ICD-11)

别称:

Stuve-Wiedemann Syndrome

Sjs2

Stuve-Wiedemann/schwartz-Jampel Type 2 Syndrome

Neonatal Schwartz-Jampel Syndrome

Schwartz-Jampel Syndrome Type 2

Stuve-Wiedemann Dysplasia

Sws

Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome

Schwartz-Jampel Syndrome, Neonatal

Stüve-Wiedemann Syndrome 1

Stüve-Wiedemann Syndrome

Stws1

Stws

Schwartz-Jampel Syndrome, Type 2

Schwartz-Jampel Type 2 Syndrome

Stüve-Wiedemann Dysplasia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Stuve-Wiedemann Syndrome 1, also known as stuve-wiedemann syndrome, is related to sturge-weber syndrome and schwartz-jampel syndrome, type 1, and has symptoms including apnea and hoarseness. An important gene associated with Stuve-Wiedemann Syndrome 1 is LIFR (LIF Receptor Subunit Alpha), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Translation Insulin regulation of translation. Affiliated tissues include bone and tongue, and related phenotypes are hyperhidrosis and abnormal autonomic nervous system physiology

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