MCID: CHR382
MIFTS: 40

Chromosome 18q Deletion Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 18q Deletion Syndrome

MalaCards integrated aliases for Chromosome 18q Deletion Syndrome:

Name: Chromosome 18q Deletion Syndrome 58 12 13 15
18q- Syndrome 58 12 60 56
Deletion 18q 12 60
Monosomy 18q 12 60
Deletion of Long Arm of Chromosome 18 74
Chromosome 18 Deletion Syndrome 45
Chromosome 18q- Syndrome 58
Chromosome 18q Deletion 54
18q Deletion Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
female preponderance
highly variable phenotype, even within families
estimated frequency of 1 in 40,000 live births
some familial occurrence, most de novo aberrations


HPO:

33
chromosome 18q deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 18q Deletion Syndrome

MalaCards based summary : Chromosome 18q Deletion Syndrome, also known as 18q- syndrome, is related to distal chromosome 18q deletion syndrome and proximal chromosome 18q deletion syndrome, and has symptoms including seizures and tremor. An important gene associated with Chromosome 18q Deletion Syndrome is DEL18Q (Chromosome 18q Deletion Syndrome). Affiliated tissues include heart, eye and thyroid, and related phenotypes are mandibular prognathia and macrotia

Description from OMIM: 601808

Related Diseases for Chromosome 18q Deletion Syndrome

Graphical network of the top 20 diseases related to Chromosome 18q Deletion Syndrome:



Diseases related to Chromosome 18q Deletion Syndrome

Symptoms & Phenotypes for Chromosome 18q Deletion Syndrome

Human phenotypes related to Chromosome 18q Deletion Syndrome:

60 33 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
2 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
3 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
4 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
5 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
6 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
7 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
8 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
10 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
11 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
12 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
13 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
14 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
15 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
16 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
17 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
18 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
19 bilateral cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0008689
20 pulmonary valve defects 60 33 frequent (33%) Frequent (79-30%) HP:0005148
21 diffuse white matter abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0007204
22 secondary growth hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0008240
23 bilateral conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008513
24 abnormal myelination 60 33 frequent (33%) Frequent (79-30%) HP:0012447
25 abnormal retinal morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000479
26 abnormal palmar dermatoglyphics 60 33 frequent (33%) Frequent (79-30%) HP:0001018
27 poor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0002370
28 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
29 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
30 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
31 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
32 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
33 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
34 thick vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0012471
35 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
36 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
37 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
38 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
39 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
40 biparietal narrowing 60 33 occasional (7.5%) Occasional (29-5%) HP:0004422
41 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
42 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
43 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
44 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
45 slender build 60 33 occasional (7.5%) Occasional (29-5%) HP:0001533
46 joint hypermobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001382
47 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
48 open mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000194
49 bulbous nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000414
50 low anterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0000294

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
strabismus
tapetoretinal degeneration
more
Neurologic Central Nervous System:
seizures
tremor
chorea
cerebellar hypoplasia
abnormal myelination
more
Abdomen External Features:
inguinal hernia
umbilical hernia
prominent abdominal venous pattern

Skeletal Feet:
pes planus
pes cavus
syndactyly
clubfoot
rocker-bottom feet
more
Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus
dilation of the ascending aorta
prominent abdominal venous pattern

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
micropenis

Head And Neck Face:
short philtrum
flat midface
midface hypoplasia
prognathism
narrow biparietal diameter

Skin Nails Hair Hair:
low anterior hairline

Endocrine Features:
growth hormone deficiency

Skeletal Hands:
proximally placed thumbs
tapering digits

Immunology:
selective iga deficiency
low levels of immunoglobulin a
atopic disorders (eczema, food allergy, asthma)

Laboratory Abnormalities:
interstitial or terminal deletion of 18q

Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis

Respiratory:
recurrent respiratory infections

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
thin upper lip
downturned corners of the mouth
more
Cardiovascular Heart:
congestive heart failure
atrial septal defect
ventricular septal defect
aortic valve stenosis
absence of the pulmonary valve
more
Skeletal:
joint laxity

Respiratory Airways:
asthma

Head And Neck Nose:
prominent nose
choanal stenosis
flat nasal bridge

Head And Neck Ears:
hearing loss, conductive
hearing loss, sensorineural
atretic external auditory canals
stenotic external auditory canals
congenital aural atresia
more
Growth Weight:
poor weight gain

Skin Nails Hair Skin:
atopic eczema

Clinical features from OMIM:

601808

UMLS symptoms related to Chromosome 18q Deletion Syndrome:


seizures, tremor

Drugs & Therapeutics for Chromosome 18q Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 18q Deletion Syndrome

Cochrane evidence based reviews: chromosome 18 deletion syndrome

Genetic Tests for Chromosome 18q Deletion Syndrome

Anatomical Context for Chromosome 18q Deletion Syndrome

MalaCards organs/tissues related to Chromosome 18q Deletion Syndrome:

42
Heart, Eye, Thyroid, Brain, Skin

Publications for Chromosome 18q Deletion Syndrome

Articles related to Chromosome 18q Deletion Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. ( 30263129 )
2018
2
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria. ( 29142771 )
2017
3
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. ( 25403779 )
2016
4
Skin manifestations of chromosome 18q deletion syndrome. ( 26122027 )
2015
5
MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination. ( 23332863 )
2014
6
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. ( 27625852 )
2013
7
Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. ( 23343423 )
2013
8
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. ( 21669507 )
2012
9
Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi. ( 20829580 )
2010
10
Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome. ( 19794103 )
2009
11
Two cases of isochromosome 18q syndrome. ( 17453088 )
2007
12
Direct transmission of the 18q- syndrome from mother to daughter. ( 16970036 )
2006
13
Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion. ( 16867037 )
2006
14
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. ( 16100728 )
2005
15
Autonomic seizures in 18q- syndrome. ( 15668052 )
2005
16
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination. ( 15645149 )
2005
17
First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. ( 15103719 )
2004
18
Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome. ( 14691641 )
2004
19
18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. ( 14508777 )
2003
20
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family. ( 12494443 )
2003
21
MRI of the hypophysis in a patient with the 18q- syndrome. ( 11688707 )
2001
22
Gene expression patterns in cell lines from patients with 18q- syndrome. ( 10453734 )
1999
23
18q-syndrome with coeliac disease. ( 10378408 )
1999
24
An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. ( 9887335 )
1999
25
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). ( 10051171 )
1999
26
18q- syndrome and white matter alterations. ( 9504506 )
1998
27
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. ( 9259379 )
1997
28
Preferential loss of the paternal alleles in the 18q- syndrome. ( 9096757 )
1997
29
White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder? ( 8933867 )
1996
30
A new deletion of 18q23 with few typical features of the 18q- syndrome. ( 8728701 )
1996
31
Neuropsychiatry of 18q- syndrome. ( 8723044 )
1996
32
The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. ( 7717403 )
1995
33
Chronic arthritis in a boy with 18q- syndrome. ( 7837167 )
1994
34
Delayed myelination in a patient with 18q- syndrome. ( 7527214 )
1994
35
46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome. ( 8448905 )
1993
36
Molecular analysis of the 18q- syndrome--and correlation with phenotype. ( 8488839 )
1993
37
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. ( 8362906 )
1993
38
A study of evoked potentials in the 18q-syndrome which includes the absence of the gene locus for myelin basic protein. ( 1383862 )
1992
39
18q-syndrome with cleft lip and palate. A clinically diagnosed case. ( 2037693 )
1991
40
Autosomal recessive chronic granulomatous disease associated with 18q-syndrome and end-stage renal failure due to Henoch-Schönlein nephritis. ( 2044603 )
1991
41
The brain in the 18q-syndrome. ( 2210088 )
1990
42
Neurologic manifestations in 18q- syndrome. ( 1700607 )
1990
43
18q-syndrome and extraskeletal Ewing's sarcoma. ( 3612718 )
1987
44
Contribution to the 18q- syndrome. A patient with del(18) (q22.3qter). ( 3109789 )
1987
45
Early development of an infant with 18q- syndrome. ( 6527378 )
1984
46
Brief clinical report: duplication 18q syndrome. ( 6881199 )
1983
47
A child with 18q- syndrome and cerebellar astrocytoma. ( 6620023 )
1983
48
Atlanto-axial rotatory fixation associated with the 18q- syndrome. Case report. ( 7358761 )
1980
49
Distal 18q deletion without clinical findings of 18q- syndrome. ( 6965846 )
1980
50
18Q - syndrome resulting from a tdic(14p; 18q). ( 457135 )
1979

Variations for Chromosome 18q Deletion Syndrome

ClinVar genetic disease variations for Chromosome 18q Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 covers 61 genes, none of which curated to show dosage sensitivity NC_000018.9: g.58024137_77996821del deletion Pathogenic GRCh37 Chromosome 18, 58024137: 77996821

Copy number variations for Chromosome 18q Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 119688 18 16100000 76117153 Deletion 18q deletion syndrome

Expression for Chromosome 18q Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 18q Deletion Syndrome.

Pathways for Chromosome 18q Deletion Syndrome

GO Terms for Chromosome 18q Deletion Syndrome

Biological processes related to Chromosome 18q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 8.96 SERPINB4 SERPINB8
2 negative regulation of peptidase activity GO:0010466 8.62 SERPINB8 SERPINB4

Molecular functions related to Chromosome 18q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.16 SERPINB4 SERPINB8
2 protease binding GO:0002020 8.96 MBP SERPINB4
3 serine-type endopeptidase inhibitor activity GO:0004867 8.62 SERPINB4 SERPINB8

Sources for Chromosome 18q 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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