Otopalatodigital Syndrome, Type Ii (OPD2)

Alias:
Otopalatodigital Syndrome Type 2
Opd Ii Syndrome
Opd Syndrome 2
Oto-Palato-Digital Syndrome, Type Ii
Faciopalatoosseous Syndrome
Cranioorodigital Syndrome
Opd2
Andre Syndrome
Fpo
Oto-Palato-Digital Syndrome, Type 2
Oto-Palato-Digital Syndrome Type 1
Oto-Palato-Digital Syndrome Type 2
Otopalatodigital Syndrome Type Ii
Otopalatodigital Syndrome 2
Opd Syndrome, Type 2
Taybi Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Otopalatodigital Syndrome, Type Ii, also known as otopalatodigital syndrome type 2, is related to terminal osseous dysplasia and frontometaphyseal dysplasia. An important gene associated with Otopalatodigital Syndrome, Type Ii is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and MAPK signaling 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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
<1/1000000
9
64
53

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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