Otopalatodigital Syndrome, Type I (OPD1)

Otopalatodigital Syndrome, Type I(来自ICD-11)

别称:

Otopalatodigital Syndrome Type 1

Taybi Syndrome

Opd I Syndrome

Opd Syndrome 1

Oto-Palato-Digital Syndrome, Type I

Oto-Palato-Digital Syndrome Type 1

Opd1

Otopalatodigital Syndrome Type I

Faciopalatoosseous Syndrome

Otopalatodigital Syndrome 1

Cranioorodigital Syndrome

Opd Syndrome, Type 1

Fpo

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Otopalatodigital Syndrome, Type I, also known as otopalatodigital syndrome type 1, is related to rubinstein-taybi syndrome 1 and otopalatodigital syndrome, type ii. An important gene associated with Otopalatodigital Syndrome, Type I is FLNA (Filamin A), and among its related pathways/superpathways are RAF/MAP kinase cascade and Phospholipase-C Pathway. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are hearing impairment and skeletal dysplasia

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