Oculoectodermal Syndrome (OES)

Oculoectodermal Syndrome(来自ICD-11)
别称:
Toriello-Lacassie-Droste Syndrome
Aplasia Cutis Congenita with Epibulbar Dermoids
Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome
Oculoectodermal Syndrome, Somatic
Oes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oculoectodermal Syndrome, also known as toriello-lacassie-droste syndrome, is related to encephalocraniocutaneous lipomatosis and lipomatosis. An important gene associated with Oculoectodermal Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. Affiliated tissues include skin and pineal, and related phenotypes are agenesis of corpus callosum and aplasia/hypoplasia of the skin
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
8
166
17

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