Occipital Horn Syndrome (OHS)

Alias:
Cutis Laxa, X-Linked
Ohs
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
Ehlers-Danlos Syndrome Occipital Horn Type
Cutis Laxa, X-Linked, Formerly
Ehlers-Danlos Syndrome Type Ix
Ehlers-Danlos Syndrome Type 9
X-Linked Cutis Laxa
Cutis Laxa X-Linked
Eds Ix, Formerly
Eds9, Formerly
Eds Ix
Eds9
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Occipital Horn Syndrome, also known as cutis laxa, x-linked, is related to cutis laxa and disorder of copper metabolism. An important gene associated with Occipital Horn Syndrome is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Elastic fibre formation and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Copper and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are intellectual disability and cerebral calcification
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
18
170
46

Medical Symptom

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

Gene & Mutation

#
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!
Wechat
Comparison
Al agent
Tutorials
Back to top