Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 (HGPPS1)

Alias:
Hgpps
Horizontal Gaze Palsy with Progressive Scoliosis
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Familial Horizontal Gaze Palsy with Progressive Scoliosis
Progressive External Ophthalmoplegia and Scoliosis
Hgpps1
Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze
Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, Type 1
Ophthalmoplegia, Progressive External, and Scoliosis
Gaze Palsy, Horizontal, with Progressive Scoliosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1, also known as hgpps, is related to scoliosis and esotropia. An important gene associated with Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 is ROBO3 (Roundabout Guidance Receptor 3), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Regulation of commissural axon pathfinding by SLIT and ROBO. Affiliated tissues include eye and pons, and related phenotypes are scoliosis and kyphosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
2
19
20

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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