DEL
MCID: CHR387
MIFTS: 27

Chromosome Xp21 Deletion Syndrome (DEL) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 52OMIM, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 52 11 27 12 13 68
Complex Glycerol Kinase Deficiency 11 24
Xp21 Microdeletion Syndrome 11 54
Monosomy Xp21 11 54
 
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 68
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 54
Del 54

Characteristics:

Orphanet epidemiological data:

54
xp21 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy

Classifications:



External Ids:

OMIM52 300679
Disease Ontology11 DOID:0060427
ICD1030 Q99.8
Orphanet54 ORPHA261476
ICD10 via Orphanet31 Q99.8

Summaries for Chromosome Xp21 Deletion Syndrome

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OMIM:52 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 shwachman-diamond type metaphyseal dysplasia, 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 diseases related to Chromosome Xp21 Deletion Syndrome:



Diseases related to chromosome xp21 deletion syndrome

Symptoms & Phenotypes for Chromosome Xp21 Deletion Syndrome

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Clinical features from OMIM:

300679

Human phenotypes related to Chromosome Xp21 Deletion Syndrome:

 54 64 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism64 54 Very frequent (99-80%) HP:0000044
2 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
3 hypertelorism64 54 Frequent (79-30%) HP:0000316
4 recurrent otitis media64 54 Occasional (29-5%) HP:0000403
5 strabismus54 Frequent (79-30%)
6 hypermetropia64 54 Occasional (29-5%) HP:0000540
7 esotropia64 54 Frequent (79-30%) HP:0000565
8 global developmental delay64 54 Very frequent (99-80%) HP:0001263
9 adrenal insufficiency54 Very frequent (99-80%)
10 osteoporosis64 54 Very frequent (99-80%) HP:0000939
11 intellectual disability64 54 Very frequent (99-80%) HP:0001249
12 seizures64 54 Occasional (29-5%) HP:0001250
13 spasticity64 54 Very frequent (99-80%) HP:0001257
14 coma64 54 Occasional (29-5%) HP:0001259
15 agenesis of corpus callosum64 54 Occasional (29-5%) HP:0001274
16 neonatal hypotonia64 54 Very frequent (99-80%) HP:0001319
17 confusion64 54 Frequent (79-30%) HP:0001289
18 joint laxity64 54 Occasional (29-5%) HP:0001388
19 growth delay64 54 Very frequent (99-80%) HP:0001510
20 ketoacidosis64 54 Very frequent (99-80%) HP:0001993
21 nausea and vomiting64 54 Very frequent (99-80%) HP:0002017
22 hypertriglyceridemia64 54 Very frequent (99-80%) HP:0002155
23 myopathy64 54 Very frequent (99-80%) HP:0003198
24 decreased muscle mass64 54 Frequent (79-30%) HP:0003199
25 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
26 calf muscle hypertrophy64 54 Frequent (79-30%) HP:0008981
27 exercise-induced myalgia64 54 Occasional (29-5%) HP:0003738
28 increased muscle fatiguability64 54 Occasional (29-5%) HP:0003750
29 reduced bone mineral density54 Very frequent (99-80%)
30 apneic episodes in infancy64 54 Occasional (29-5%) HP:0005949
31 primary adrenal insufficiency64 54 Very frequent (99-80%) HP:0008207
32 finger clinodactyly64 54 Frequent (79-30%) HP:0040019

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 Syndrome27
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:

36
Bone

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet