Enchondromatosis, Multiple, Ollier Type (ENCHOM)

Alias:
Ollier Disease
Enchondromatosis
Dyschondroplasia
Osteochondromatosis
Enchondromatosis with Haemangiomata
Multiple Cartilaginous Enchondroses
Hereditary Multiple Exostoses
Enchondromatosis, Multiple
Multiple Enchondromatosis
Enchondromatosis Multiple
Ollier's Syndrome
Maffucci Disease
Kast's Syndrome
Olliers Disease
Chondromatosis
Enchom
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to exostoses, multiple, type i and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are hemangioma and micromelia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
32
510
16

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
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