Short Syndrome (SHORTS)

Alias:

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay

Lipodystrophy-Rieger Anomaly-Diabetes Syndrome

Rieger Anomaly-Partial Lipodystrophy Syndrome

Lipodystrophy, Partial, with Rieger Anomaly and Short Stature

Aarskog-Ose-Pande Syndrome

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay

Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

Partial Lipodystrophy with Rieger Anomaly and Short Stature

Lipodystrophy Rieger Anomaly Diabetes

Growth Retardation-Rieger Anomaly

Shorts

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to bursitis and contact dermatitis. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include eye and skin, and related phenotypes are inguinal hernia and sensorineural hearing impairment

Related ID：

MALACARDS：SHR029

OMIM：269880

MESH：C537327