MCID: CHR387
MIFTS: 30

Chromosome Xp21 Deletion Syndrome

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

Aliases & Classifications for Chromosome Xp21 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 54 12 29 13 14 69
Complex Glycerol Kinase Deficiency 12 24
Xp21 Microdeletion Syndrome 12 56
Monosomy Xp21 12 56
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 69
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 56
Del 56

Characteristics:

Orphanet epidemiological data:

56
monosomy xp21
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy;

Classifications:



Summaries for Chromosome Xp21 Deletion Syndrome

OMIM : 54
Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474) and its neighboring genes, dystrophin (300377), which causes Duchenne muscular dystrophy (DMD; 310200), and NR0B1 (300473), which causes congenital adrenal hypoplasia (AHC; 300200). Patients present with hyperglycerolemia and glyceroluria, associated with DMD and/or AHC (summary by Stanczak et al., 2007). (300679)

MalaCards based summary : Chromosome Xp21 Deletion Syndrome, also known as complex glycerol kinase deficiency, is related to glycerol kinase deficiency and xeroderma pigmentosum, type 9, and has symptoms including hypertriglyceridemia, spasticity and seizures. 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

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



Diseases related to Chromosome Xp21 Deletion Syndrome

Symptoms & Phenotypes for Chromosome Xp21 Deletion Syndrome

Clinical features from OMIM:

300679

Human phenotypes related to Chromosome Xp21 Deletion Syndrome:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002155
2 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
5 joint laxity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001388
6 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 neonatal hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001319
9 coma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001259
10 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
12 esotropia 56 32 frequent (33%) Frequent (79-30%) HP:0000565
13 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
14 confusion 56 32 frequent (33%) Frequent (79-30%) HP:0001289
15 hypermetropia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000540
16 recurrent otitis media 56 32 occasional (7.5%) Occasional (29-5%) HP:0000403
17 decreased muscle mass 56 32 frequent (33%) Frequent (79-30%) HP:0003199
18 ketoacidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001993
19 calf muscle hypertrophy 56 32 frequent (33%) Frequent (79-30%) HP:0008981
20 growth delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001510
21 apneic episodes in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0005949
22 exercise-induced myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003738
23 hypogonadotrophic hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000044
24 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
25 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
26 primary adrenal insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0008207
27 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
28 finger clinodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0040019
29 increased muscle fatiguability 56 32 occasional (7.5%) Occasional (29-5%) HP:0003750
30 strabismus 56 Frequent (79-30%)
31 adrenal insufficiency 56 Very frequent (99-80%)
32 reduced bone mineral density 56 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome Xp21 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xp21 Deletion Syndrome

Genetic Tests for Chromosome Xp21 Deletion Syndrome

Genetic tests related to Chromosome Xp21 Deletion Syndrome:

id Genetic test Affiliating Genes
1 Chromosome Xp21 Deletion Syndrome 29
2 Complex Glycerol Kinase Deficiency 24 NR0B1

Anatomical Context for Chromosome Xp21 Deletion Syndrome

MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

39
Bone

Publications for Chromosome Xp21 Deletion Syndrome

Variations for Chromosome Xp21 Deletion Syndrome

Expression for Chromosome Xp21 Deletion Syndrome

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

Pathways for Chromosome Xp21 Deletion Syndrome

GO Terms for Chromosome Xp21 Deletion Syndrome

Biological processes related to Chromosome Xp21 Deletion Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of synapse assembly GO:0051965 8.32 IL1RAP

Sources for Chromosome Xp21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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