Metachondromatosis (METCDS)

Alias:
Metcds
Mc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Metachondromatosis, also known as metcds, is related to exostoses, multiple, type i and hereditary multiple osteochondromas. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are ERK Signaling and Nervous system development. Affiliated tissues include bone and heart, and related phenotypes are avascular necrosis and cranial nerve paralysis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
15
175
26

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
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