Otopalatodigital Syndrome, Type I (OPD1)

Alias:
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Unknown
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17
199
22

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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