Opitz Gbbb Syndrome (GBBB)

Alias:
Opitz G/bbb Syndrome
Hypertelorism-Hypospadias Syndrome
Opitz Syndrome
Hypospadias-Dysphagia Syndrome
Opitz Bbb/g Syndrome
Opitz-Frias Syndrome
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome
Hypertelorism with Esophageal Abnormality and Hypospadias
Telecanthus-Hypospadias Syndrome
Opitz Gbbb Syndrome Type I
Opitz Bbbg Syndrome
Gbbb
Osx
Os
Hypertelorism with Esophageal Abnormalities and Hypospadias
Opitz Gbbb Syndrome, Type I, Formerly
Opitz Bbbg Syndrome, Type I, Formerly
Opitz Gbbb Syndrome, Type 1, X-Linked
Opitz-G Syndrome, Type I, Formerly
Hypertelorism Hypospadias Syndrome
Hypertelorism-Hypospadias Sydrome
Opitz Gbbb Syndrome, X-Linked
X-Linked Opitz G/bbb Syndrome
Opitz Gbbb Syndrome X-Linked
Opitz Bbbg Syndrome Type I
Opitz Syndrome, X-Linked
Opitz G Syndrome, Type I
Opitz-G Syndrome Type I
Opitz Syndrome X-Linked
Opitz Bbb Syndrome
Opitz G Syndrome
Gbbb1, Formerly
Bbbg1, Formerly
Ogs1, Formerly
Bbbg1
Gggb1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Opitz Gbbb Syndrome, also known as opitz g/bbb syndrome, is related to mid1-related opitz g/bbb syndrome and ankyloglossia with or without tooth anomalies. An important gene associated with Opitz Gbbb Syndrome is MID1 (Midline 1), and among its related pathways/superpathways is Carnitine synthesis. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include trachea and heart, and related phenotypes are hypertelorism and wide nasal bridge
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
XL
Antenatal
--
27
176
28

Medical Symptom

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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

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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
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IF
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