MCID: CHR387
MIFTS: 34

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 57 12 37 29 13 15 73
Complex Glycerol Kinase Deficiency 57 12
Xp21 Microdeletion Syndrome 12 59
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 73
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 59
Xp21 Contiguous Gene Deletion Syndrome 59
Monosomy Xp21 12
Del 59

Characteristics:

Orphanet epidemiological data:

59
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 : 57 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. 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 hypertelorism and agenesis of corpus callosum

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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
6 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
9 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
10 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
11 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
12 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
13 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
14 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
15 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
16 recurrent otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000403
17 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
18 primary adrenal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008207
19 joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001388
20 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
21 finger clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0040019
22 exercise-induced myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003738
23 confusion 59 32 frequent (33%) Frequent (79-30%) HP:0001289
24 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
25 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
26 hypermetropia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000540
27 ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001993
28 increased muscle fatiguability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003750
29 apneic episodes in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0005949
30 strabismus 59 Frequent (79-30%)
31 reduced bone mineral density 59 Very frequent (99-80%)
32 adrenal insufficiency 59 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 29

Anatomical Context for Chromosome Xp21 Deletion Syndrome

MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:

41
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:

37
# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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