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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 51OMIM, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 51 11 26 12 13 67
Complex Glycerol Kinase Deficiency 11 24
Xp21 Microdeletion Syndrome 11 53
Monosomy Xp21 11 53
 
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 67
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 53
Chromosome Deletion 67
Del 53

Characteristics:

Orphanet epidemiological data:

53
xp21 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy

Classifications:



External Ids:

OMIM51 300679
Disease Ontology11 DOID:0060427
ICD1029 Q99.8
Orphanet53 ORPHA261476
ICD10 via Orphanet30 Q99.8

Summaries for Chromosome Xp21 Deletion Syndrome

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OMIM:51 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

Human phenotypes related to Chromosome Xp21 Deletion Syndrome:

 53 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism53 Very frequent (99-80%)
2 everted lower lip vermilion53 Frequent (79-30%)
3 hypertelorism53 Frequent (79-30%)
4 recurrent otitis media53 Occasional (29-5%)
5 strabismus53 Frequent (79-30%)
6 hypermetropia53 Occasional (29-5%)
7 esotropia53 Frequent (79-30%)
8 global developmental delay53 Very frequent (99-80%)
9 adrenal insufficiency53 Very frequent (99-80%)
10 osteoporosis53 Very frequent (99-80%)
11 intellectual disability53 Very frequent (99-80%)
12 seizures53 Occasional (29-5%)
13 spasticity53 Very frequent (99-80%)
14 coma53 Occasional (29-5%)
15 agenesis of corpus callosum53 Occasional (29-5%)
16 neonatal hypotonia53 Very frequent (99-80%)
17 confusion53 Frequent (79-30%)
18 joint laxity53 Occasional (29-5%)
19 growth delay53 Very frequent (99-80%)
20 ketoacidosis53 Very frequent (99-80%)
21 nausea and vomiting53 Very frequent (99-80%)
22 hypertriglyceridemia53 Very frequent (99-80%)
23 myopathy53 Very frequent (99-80%)
24 decreased muscle mass53 Frequent (79-30%)
25 elevated serum creatine phosphokinase53 Very frequent (99-80%)
26 calf muscle hypertrophy53 Frequent (79-30%)
27 exercise-induced myalgia53 Occasional (29-5%)
28 increased muscle fatiguability53 Occasional (29-5%)
29 reduced bone mineral density53 Very frequent (99-80%)
30 apneic episodes in infancy53 Occasional (29-5%)
31 primary adrenal insufficiency53 Very frequent (99-80%)
32 finger clinodactyly53 Frequent (79-30%)

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 Syndrome26
2 Complex Glycerol Kinase Deficiency24 NR0B1

Anatomical Context for Chromosome Xp21 Deletion Syndrome

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MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet