MCID: CHR387
MIFTS: 27

Chromosome Xp21 Deletion Syndrome malady

Categories: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome Xp21 Deletion Syndrome

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Sources:
50OMIM, 11Disease Ontology, 13DISEASES, 25GTR, 12diseasecard, 66UMLS, 23GeneTests, 52Orphanet, 28ICD10, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 50 11 13 25 12 66
Complex Glycerol Kinase Deficiency 11 23
Xp21 Microdeletion Syndrome 11 52
Monosomy Xp21 11 52
 
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 66
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 52
Chromosome Deletion 66
Del 52

Characteristics:

Orphanet epidemiological data:

52
xp21 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy

Classifications:



External Ids:

OMIM50 300679
Disease Ontology11 DOID:0060427
ICD1028 Q99.8
Orphanet52 ORPHA261476
ICD10 via Orphanet29 Q99.8

Summaries for Chromosome Xp21 Deletion Syndrome

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OMIM:50 Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474)... (300679) more...

MalaCards based summary: Chromosome Xp21 Deletion Syndrome, also known as complex glycerol kinase deficiency, is related to glycerol kinase deficiency and cryptococcal meningitis, and has symptoms including Array, Array and Array. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome). Affiliated tissues include bone.

Related Diseases for Chromosome Xp21 Deletion Syndrome

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Graphical network of the top 20 diseases related to Chromosome Xp21 Deletion Syndrome:



Diseases related to chromosome xp21 deletion syndrome

Symptoms for Chromosome Xp21 Deletion Syndrome

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Clinical features from OMIM:

300679

Symptoms:

 52 (show all 32)
  • hypogonadotrophic hypogonadism
  • everted lower lip vermilion
  • hypertelorism
  • recurrent otitis media
  • strabismus
  • hypermetropia
  • esotropia
  • global developmental delay
  • adrenal insufficiency
  • osteoporosis
  • intellectual disability
  • seizures
  • spasticity
  • coma
  • agenesis of corpus callosum
  • neonatal hypotonia
  • confusion
  • joint laxity
  • growth delay
  • ketoacidosis
  • nausea and vomiting
  • hypertriglyceridemia
  • myopathy
  • decreased muscle mass
  • elevated serum creatine phosphokinase
  • calf muscle hypertrophy
  • exercise-induced myalgia
  • increased muscle fatiguability
  • reduced bone mineral density
  • apneic episodes in infancy
  • primary adrenal insufficiency
  • finger clinodactyly

Drugs & Therapeutics for Chromosome Xp21 Deletion Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chromosome Xp21 Deletion Syndrome

Genetic Tests for Chromosome Xp21 Deletion Syndrome

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Genetic tests related to Chromosome Xp21 Deletion Syndrome:

id Genetic test Affiliating Genes
1 Chromosome Xp21 Deletion Syndrome25
2 Complex Glycerol Kinase Deficiency23 NR0B1

Anatomical Context for Chromosome Xp21 Deletion Syndrome

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MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

34
Bone

Animal Models for Chromosome Xp21 Deletion Syndrome or affiliated genes

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Publications for Chromosome Xp21 Deletion Syndrome

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Variations for Chromosome Xp21 Deletion Syndrome

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Expression for genes affiliated with Chromosome Xp21 Deletion Syndrome

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Search GEO for disease gene expression data for Chromosome Xp21 Deletion Syndrome.

Pathways for genes affiliated with Chromosome Xp21 Deletion Syndrome

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GO Terms for genes affiliated with Chromosome Xp21 Deletion Syndrome

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Sources for Chromosome Xp21 Deletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet