DEL
MCID: CHR387
MIFTS: 36

Chromosome Xp21 Deletion Syndrome (DEL)

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

Aliases & Classifications for Chromosome Xp21 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xp21 Deletion Syndrome:

Name: Chromosome Xp21 Deletion Syndrome 57 12 36 29 13 6 15 70
Complex Glycerol Kinase Deficiency 57 12 58
Xp21 Microdeletion Syndrome 12 58
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 70
Xp21 Contiguous Gene Deletion Syndrome 58
Xp21 Deletion Syndrome 58
Monosomy Xp21 12
Complex Gkd 58
Del 58

Characteristics:

Orphanet epidemiological data:

58
xp21 deletion syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

MalaCards based summary : Chromosome Xp21 Deletion Syndrome, also known as complex glycerol kinase deficiency, is related to glycerol kinase deficiency and hypoadrenocorticism, familial. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome). Affiliated tissues include eye, bone and skin, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome Xp21 region.

KEGG : 36 Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both.

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
6 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
7 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
8 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
9 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
10 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
11 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
12 ketoacidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001993
13 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
14 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
15 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
16 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
17 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
18 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
19 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
20 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
21 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
22 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
23 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
24 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
25 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
26 exercise-induced myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003738
27 increased muscle fatiguability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003750
28 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
29 seizure 31 occasional (7.5%) HP:0001250
30 seizures 58 Occasional (29-5%)
31 strabismus 58 Frequent (79-30%)
32 reduced bone mineral density 58 Very frequent (99-80%)
33 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
34 adrenal insufficiency 58 Very frequent (99-80%)

Clinical features from OMIM®:

300679 (Updated 20-May-2021)

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:

40
Eye, Bone, Skin

Publications for Chromosome Xp21 Deletion Syndrome

Articles related to Chromosome Xp21 Deletion Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. 61 57
17089405 2007
2
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. 57 61
9188656 1997
3
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. 61 57
7750200 1995
4
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. 57 61
2852474 1988
5
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. 61 57
2840818 1988
6
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. 61 57
3004790 1986
7
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. 57 61
2988829 1985
8
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci. 57
10604146 1999
9
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 57
9709929 1998
10
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 57
7990958 1994
11
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. 57
1999345 1991
12
Physical mapping distal to the DMD locus. 57
2081587 1990
13
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. 57
2564327 1989
14
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. 57
2837087 1988
15
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. 57
2894344 1988
16
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. 57
2891606 1987
17
Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. 57
2890456 1987
18
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. 57
2883886 1987
19
Contiguous gene syndromes: a component of recognizable syndromes. 57
3016222 1986
20
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. 57
2869305 1986
21
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. 57
3003318 1986
22
Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case. 57
3766905 1986
23
Adrenal dysfunction in glycerol kinase deficiency. 57
2988520 1985
24
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. 57
2856983 1985
25
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. 57
6325658 1984
26
Human glycerol kinase deficiency: an inborn error of compartmental metabolism. 57
6316939 1983
27
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. 57
6315281 1983
28
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 57
6125810 1982
29
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. 57
6249182 1980
30
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. 57
200232 1977
31
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning. 61
32845106 2020
32
[Recurrent anorexia and pigmentation of skin for more than two months in an infant]. 61
28774370 2017
33
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency. 61
28759390 2017
34
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates. 61
27087023 2016
35
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. 61
25917374 2015
36
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). 61
23739620 2012
37
The diagnostic difficulties of complex glycerol kinase deficiency. 61
20110216 2010
38
[Complex glycerol kinase deficiency in three children]. 61
17937854 2007
39
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. 61
16887896 2006
40
Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. 61
15684452 2005
41
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. 61
15300857 2004
42
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure. 61
15009558 2004
43
NR0B1-Related Adrenal Hypoplasia Congenita 61
20301604 2001
44
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship? 61
10026415 1999
45
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. 61
7573140 1995
46
Dysmorphic features in patients with complex glycerol kinase deficiency. 61
7752004 1995
47
Duchenne muscular dystrophy: negative scotopic bright-flash electroretinogram but not congenital stationary night blindness. 61
7834566 1994
48
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome. 61
8240114 1993
49
Asthma as the first presenting symptom of complex glycerol kinase deficiency. 61
1867094 1991
50
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. 61
2166152 1990

Variations for Chromosome Xp21 Deletion Syndrome

ClinVar genetic disease variations for Chromosome Xp21 Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 14 genes Deletion not provided 684515 GRCh37: X:27346252-33328836
GRCh38:

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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of synapse assembly GO:0051965 9.16 IL1RAPL1 IL1RAP
2 regulation of presynapse assembly GO:1905606 8.96 IL1RAPL1 IL1RAP
3 trans-synaptic signaling by trans-synaptic complex GO:0099545 8.62 IL1RAPL1 IL1RAP

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

# Name GO ID Score Top Affiliating Genes
1 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 8.96 IL1RAPL1 IL1RAP
2 NAD(P)+ nucleosidase activity GO:0050135 8.62 IL1RAPL1 IL1RAP

Sources for Chromosome Xp21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....