Osteopathia Striata with Cranial Sclerosis (OSCS)

Alias:
Hyperostosis Generalisata with Striations
Robinow-Unger Syndrome
Osteopathia Striata Cranial Sclerosis
Osteopathia Striata-Cranial Sclerosis Syndrome
Oscs
Amer1-Related Osteopathia Striata with Cranial Sclerosis
Horan-Beighton Syndrome
Os-Cs
Osc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteopathia Striata with Cranial Sclerosis, also known as hyperostosis generalisata with striations, is related to craniometadiaphyseal osteosclerosis with hip dysplasia and cleft palate, isolated, and has symptoms including apnea and headache. An important gene associated with Osteopathia Striata with Cranial Sclerosis is AMER1 (APC Membrane Recruitment Protein 1). Affiliated tissues include bone and heart, and related phenotypes are thickened calvaria and increased bone mineral density
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
<1/1000000
7
20
27

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

Title
PMID
Journal
Year
IF
No Data Found!
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