Adams-Oliver Syndrome 1 (AOS1)

Alias:

Congenital Scalp Defects with Distal Limb Reduction Anomalies

Aplasia Cutis Congenita with Terminal Transverse Limb Defects

Aos1

Absence Defect of Limbs, Scalp, and Skull

Absence Defect of Limbs Scalp and Skull

Adams-Oliver Syndrome, Type 1

Adams Oliver Syndrome

Aos

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Adams-Oliver Syndrome 1, also known as congenital scalp defects with distal limb reduction anomalies, is related to adams-oliver syndrome and adams-oliver syndrome 2, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome 1 is ARHGAP31 (Rho GTPase Activating Protein 31), and among its related pathways/superpathways are RAC1 GTPase cycle and Genetic causes of porto-sinusoidal vascular disease. Affiliated tissues include heart and skin, and related phenotypes are supernumerary nipple and intellectual disability

Related ID：

MALACARDS：ADM005

OMIM：100300

MESH：D004476