Cystic Angiomatosis of Bone, Diffuse (GSD)

Alias:
Gorham-Stout Disease
Vanishing Bone Disease
Gorham Syndrome
Progressive Massive Osteolysis
Idiopathic Massive Osteolysis
Gorham Disease
Osteolysis, Massive
Massive Osteolyses
Gsd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cystic Angiomatosis of Bone, Diffuse, also known as gorham-stout disease, is related to glycogen storage disease iv and glycogen storage disease ib. An important gene associated with Cystic Angiomatosis of Bone, Diffuse is RASA1 (RAS P21 Protein Activator 1). The drug Endothelial Growth Factors has been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are osteolysis and elevated alkaline phosphatase of bone origin

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
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1
7
2

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

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PMID
Journal
Year
IF
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