DEL
MCID: CHR387
MIFTS: 35

Chromosome Xp21 Deletion Syndrome (DEL)

Categories: 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 56 12 36 29 13 6 15 71
Complex Glycerol Kinase Deficiency 56 12
Xp21 Microdeletion Syndrome 12 58
Glycerol Kinase Deficiency - Contiguous Gene Syndrome 71
Glycerol Kinase Deficiency-Contiguous Gene Syndrome 58
Xp21 Contiguous Gene Deletion Syndrome 58
Monosomy Xp21 12
Del 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Chromosome Xp21 Deletion Syndrome

OMIM : 56 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 hypoadrenocorticism, familial. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome). Affiliated tissues include bone, and related phenotypes are intellectual disability and global developmental delay

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

Diseases related to Chromosome Xp21 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 30.6 PTER NR0B1 IL1RAPL1 GK DMD
2 hypoadrenocorticism, familial 30.2 NR0B1 IL1RAPL1 GK
3 muscular dystrophy, duchenne type 29.6 OTC NR0B1 GK DMD
4 muscular dystrophy, becker type 29.5 GK DMD
5 nr0b1-related adrenal hypoplasia congenita 29.0 NR0B1 IL1RAPL1 GK DMD
6 adrenal hypoplasia, congenital 29.0 NR0B1 IL1RAPL1 GK DMD
7 muscular dystrophy 10.5
8 46,xy sex reversal 2 10.2
9 hypogonadotropic hypogonadism 10.2
10 hypogonadism 10.2
11 precocious puberty 10.2
12 central precocious puberty 10.2
13 hypertriglyceridemia, familial 10.1
14 lipoid congenital adrenal hyperplasia 10.1
15 hypotonia 10.1
16 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NR0B1 GK
17 metaphyseal dysplasia 10.0 NR0B1 GK
18 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.0 OTC GK
19 hypertelorism 10.0
20 dermatitis, atopic 10.0
21 premature ovarian failure 7 10.0
22 alacrima, achalasia, and mental retardation syndrome 10.0
23 monocular esotropia 10.0
24 cholestasis 10.0
25 dermatitis 10.0
26 bilirubin metabolic disorder 10.0
27 myopathy 10.0
28 esotropia 10.0
29 hypoglycemia 10.0
30 dystrophinopathies 10.0
31 aland island eye disease 9.8 GK DMD
32 alternating hemiplegia of childhood 9.8 NR0B1 GK
33 tyrosinemia, type i 9.7 OTC DMD
34 x-linked recessive disease 9.5 NR0B1 DMD

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 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
4 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
5 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
6 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
7 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
8 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
10 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
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 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
22 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
23 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
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

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
Bone

Publications for Chromosome Xp21 Deletion Syndrome

Articles related to Chromosome Xp21 Deletion Syndrome:

(show all 31)
# Title Authors PMID Year
1
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. 61 56
1999345 1991
2
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. 56
17089405 2007
3
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci. 56
10604146 1999
4
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 56
9709929 1998
5
Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. 56
9188656 1997
6
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. 56
7750200 1995
7
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 56
7990958 1994
8
Physical mapping distal to the DMD locus. 56
2081587 1990
9
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. 56
2564327 1989
10
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. 56
2852474 1988
11
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. 56
2840818 1988
12
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. 56
2837087 1988
13
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. 56
2894344 1988
14
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. 56
2891606 1987
15
Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. 56
2890456 1987
16
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. 56
2883886 1987
17
Contiguous gene syndromes: a component of recognizable syndromes. 56
3016222 1986
18
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. 56
2869305 1986
19
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. 56
3003318 1986
20
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. 56
3004790 1986
21
Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case. 56
3766905 1986
22
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. 56
2988829 1985
23
Adrenal dysfunction in glycerol kinase deficiency. 56
2988520 1985
24
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. 56
2856983 1985
25
A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. 56
6325658 1984
26
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. 56
6315281 1983
27
Human glycerol kinase deficiency: an inborn error of compartmental metabolism. 56
6316939 1983
28
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 56
6125810 1982
29
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. 56
6249182 1980
30
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. 56
200232 1977
31
Mental retardation locus in Xp21 chromosome microdeletion. 61
8357005 1993

Variations for Chromosome Xp21 Deletion Syndrome

ClinVar genetic disease variations for Chromosome Xp21 Deletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 14 genes: DMD , GK , IL1RAPL1 , NR0B1 deletion not provided 684515 X:27346252-33328836

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 steroid biosynthetic process GO:0006694 9.26 NSDHL NR0B1
2 positive regulation of synapse assembly GO:0051965 9.16 IL1RAPL1 IL1RAP
3 regulation of presynapse assembly GO:1905606 8.96 IL1RAPL1 IL1RAP
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....