MCID: CHR387
MIFTS: 35

Chromosome Xp21 Deletion Syndrome

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

Aliases & Classifications for Chromosome Xp21 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 53 12 36 28 13 14 69
Complex Glycerol Kinase Deficiency 53 12
Xp21 Microdeletion Syndrome 12 55
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 69
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 55
Xp21 Contiguous Gene Deletion Syndrome 55
Monosomy Xp21 12
Del 55

Characteristics:

Orphanet epidemiological data:

55
xp21 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy;

Classifications:



Summaries for Chromosome Xp21 Deletion Syndrome

OMIM : 53 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 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies, and has symptoms including seizures, nausea and vomiting and joint laxity. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome), and among its related pathways/superpathways are Glycerolipid metabolism and PPAR signaling pathway. 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:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
3 joint laxity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001388
4 exercise-induced myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003738
5 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
6 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
7 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
9 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
10 neonatal hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001319
11 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
12 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
13 decreased muscle mass 55 31 frequent (33%) Frequent (79-30%) HP:0003199
14 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
15 hypertriglyceridemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002155
16 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
17 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
18 recurrent otitis media 55 31 occasional (7.5%) Occasional (29-5%) HP:0000403
19 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
20 primary adrenal insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0008207
21 coma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001259
22 finger clinodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0040019
23 confusion 55 31 frequent (33%) Frequent (79-30%) HP:0001289
24 esotropia 55 31 frequent (33%) Frequent (79-30%) HP:0000565
25 calf muscle hypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0008981
26 hypermetropia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000540
27 ketoacidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001993
28 increased muscle fatiguability 55 31 occasional (7.5%) Occasional (29-5%) HP:0003750
29 apneic episodes in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0005949
30 strabismus 55 Frequent (79-30%)
31 reduced bone mineral density 55 Very frequent (99-80%)
32 adrenal insufficiency 55 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:

# Genetic test Affiliating Genes
1 Chromosome Xp21 Deletion Syndrome 28

Anatomical Context for Chromosome Xp21 Deletion Syndrome

MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

38
Bone

Publications for Chromosome Xp21 Deletion Syndrome

Articles related to Chromosome Xp21 Deletion Syndrome:

(show all 21)
# Title Authors Year
1
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency. ( 28759390 )
2017
2
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate. ( 27087023 )
2016
3
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion). ( 23739620 )
2012
4
The diagnostic difficulties of complex glycerol kinase deficiency. ( 20110216 )
2010
5
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. ( 17089405 )
2007
6
[Complex glycerol kinase deficiency in three children]. ( 17937854 )
2007
7
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. ( 16887896 )
2006
8
Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. ( 15684452 )
2005
9
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. ( 15300857 )
2004
10
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure. ( 15009558 )
2004
11
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship? ( 10026415 )
1999
12
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. ( 7573140 )
1995
13
Dysmorphic features in patients with complex glycerol kinase deficiency. ( 7752004 )
1995
14
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. ( 7750200 )
1995
15
Asthma as the first presenting symptom of complex glycerol kinase deficiency. ( 1867094 )
1991
16
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. ( 2166152 )
1990
17
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. ( 2840818 )
1988
18
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies. ( 2849860 )
1988
19
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. ( 2852474 )
1988
20
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. ( 3004790 )
1986
21
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. ( 2988829 )
1985

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

Pathways related to Chromosome Xp21 Deletion Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 PPAR signaling pathway hsa03320

GO Terms for Chromosome Xp21 Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of synapse assembly GO:0051965 8.62 IL1RAP IL1RAPL1

Sources for Chromosome Xp21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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