Chromosome Xp21 Deletion Syndrome (DEL)

Alias:
Complex Glycerol Kinase Deficiency
Xp21 Microdeletion Syndrome
Glycerol Kinase Deficiency - Contiguous Gene Syndrome
Xp21 Contiguous Gene Deletion Syndrome
Xp21 Deletion Syndrome
Monosomy Xp21
Complex Gkd
Del
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome Xp21 Deletion Syndrome, also known as complex glycerol kinase deficiency, is related to hypoadrenocorticism, familial and muscular dystrophy, duchenne type. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome), and among its related pathways/superpathways are Triglyceride metabolism and Triacylglyceride synthesis. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and spasticity

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
6
69
30

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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