DEL
MCID: CHR387
MIFTS: 36

Chromosome Xp21 Deletion Syndrome (DEL)

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

Aliases & Classifications for Chromosome Xp21 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 58 12 38 30 13 15 74
Complex Glycerol Kinase Deficiency 58 12
Xp21 Microdeletion Syndrome 12 60
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 74
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 60
Xp21 Contiguous Gene Deletion Syndrome 60
Monosomy Xp21 12
Del 60

Characteristics:

Orphanet epidemiological data:

60
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 : 58 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 adrenal hypoplasia, congenital. 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, and related phenotypes are intellectual disability and spasticity

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

Human phenotypes related to Chromosome Xp21 Deletion Syndrome:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
6 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
7 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
8 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
9 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
10 hypogonadotrophic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000044
11 primary adrenal insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008207
12 ketoacidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001993
13 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
14 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
15 decreased muscle mass 60 33 frequent (33%) Frequent (79-30%) HP:0003199
16 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
17 finger clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0040019
18 calf muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008981
19 confusion 60 33 frequent (33%) Frequent (79-30%) HP:0001289
20 esotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000565
21 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
22 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
23 recurrent otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000403
24 joint laxity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001388
25 coma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001259
26 exercise-induced myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003738
27 hypermetropia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000540
28 increased muscle fatiguability 60 33 occasional (7.5%) Occasional (29-5%) HP:0003750
29 apneic episodes in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0005949
30 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
31 strabismus 60 Frequent (79-30%)
32 reduced bone mineral density 60 Very frequent (99-80%)
33 adrenal insufficiency 60 Very frequent (99-80%)

Clinical features from OMIM:

300679

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 30

Anatomical Context for Chromosome Xp21 Deletion Syndrome

MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

42
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
[Complex glycerol kinase deficiency in three children]. ( 17937854 )
2007
6
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. ( 17089405 )
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
Dysmorphic features in patients with complex glycerol kinase deficiency. ( 7752004 )
1995
13
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. ( 7573140 )
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
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies. ( 2849860 )
1988
18
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. ( 2840818 )
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:

38
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 PPAR signaling pathway hsa03320

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

# Super pathways Score Top Affiliating Genes
1 10.36 ELP1 IL1RAP

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 9.16 IL1RAP IL1RAPL1
2 regulation of presynapse assembly GO:1905606 8.96 IL1RAP IL1RAPL1
3 trans-synaptic signaling by trans-synaptic complex GO:0099545 8.62 IL1RAP IL1RAPL1

Sources for Chromosome Xp21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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