Aarskog-Scott Syndrome (AAS)

Alias:

Aarskog Syndrome

Faciodigitogenital Syndrome

Faciogenital Dysplasia

Aas

Intellectual Developmental Disorder, X-Linked, Syndromic 16

X-Linked Aarskog Syndrome

Fgdy

Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder

Intellectual Developmental Disorder, X-Linked Syndromic 16

Aarskog-Scott Syndrome ) Syndrome

Facio-Digito-Genital Dysplasia

Aarskog Syndrome, X-Linked

Greig's Syndrome

Greig Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to noonan syndrome 1 and unilateral focal polymicrogyria. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include testes and heart, and related phenotypes are hypertelorism and umbilical hernia

Related ID：

MALACARDS：ARS001

OMIM：305400

MESH：C535331