MCID: CHR382
MIFTS: 37

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 57 12 13 15
18q- Syndrome 57 12 59 55
Deletion 18q 12 59
Monosomy 18q 12 59
Deletion of Long Arm of Chromosome 18 72
Chromosome 18 Deletion Syndrome 44
Chromosome 18q- Syndrome 57
Chromosome 18q Deletion 53
18q Deletion Syndrome 59

Characteristics:

OMIM:

57
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:

32
chromosome 18q deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060407
OMIM 57 601808
MeSH 44 C536580
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C0432443 C2931249
Orphanet 59 ORPHA1600
MedGen 42 C0432443
UMLS 72 C0432443

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 brain, and related phenotypes are mandibular prognathia and macrotia

More information from OMIM: 601808

Related Diseases for Chromosome 18q Deletion Syndrome

Diseases related to Chromosome 18q Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 distal chromosome 18q deletion syndrome 12.8
2 proximal chromosome 18q deletion syndrome 12.7
3 chromosome 18p duplication 10.2
4 chromosome 4p duplication 10.2
5 chromosomal triplication 10.1
6 colorectal cancer 10.1
7 hashimoto thyroiditis 10.1
8 pernicious anemia 10.1
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
10 deficiency anemia 10.1
11 growth hormone deficiency 10.1
12 anorectal anomalies 10.0
13 papillomatosis, confluent and reticulated 10.0
14 chromosome 2q35 duplication syndrome 10.0
15 retinitis pigmentosa 11 10.0
16 umbilical hernia 10.0
17 dermatitis 10.0
18 aortic coarctation 10.0
19 chromosome 10p duplication 10.0
20 chromosome 10q duplication 10.0
21 chromosome 2q duplication 10.0
22 chromosome 4q duplication 10.0
23 chromosome 5q duplication 10.0
24 chromosome 6p duplication 10.0
25 chromosome 9p duplication 10.0
26 obsolete: duplication 4q 10.0
27 trisomy 1q 10.0
28 complex chromosomal rearrangement 10.0
29 partial deletion of the long arm of chromosome 18 10.0
30 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
31 immune deficiency disease 10.0
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
33 alacrima, achalasia, and mental retardation syndrome 10.0
34 heart septal defect 10.0
35 atrial heart septal defect 10.0
36 thyroiditis 10.0
37 diabetes mellitus 10.0
38 cleft lip 9.9
39 microcephaly 9.9
40 47,xyy 9.9
41 ring chromosome 9.9
42 beckwith-wiedemann syndrome 9.9
43 protoporphyria, erythropoietic, 1 9.9
44 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
45 porphyria, congenital erythropoietic 9.9
46 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
47 aural atresia, congenital 9.9
48 spinal muscular atrophy 9.9
49 porphyria 9.9
50 muscular atrophy 9.9

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:

59 32 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
2 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
5 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
6 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
7 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
8 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
11 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
12 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
13 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
14 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
15 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
16 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
17 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
18 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
19 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
20 pulmonary valve defects 59 32 frequent (33%) Frequent (79-30%) HP:0005148
21 diffuse white matter abnormalities 59 32 frequent (33%) Frequent (79-30%) HP:0007204
22 secondary growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008240
23 bilateral conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008513
24 abnormal myelination 59 32 frequent (33%) Frequent (79-30%) HP:0012447
25 abnormal retinal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000479
26 abnormal palmar dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0001018
27 poor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0002370
28 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
29 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
30 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
31 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
32 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
33 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
34 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
35 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
36 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
37 open mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000194
38 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
39 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
40 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
41 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
42 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
43 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
44 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
45 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
46 slender build 59 32 occasional (7.5%) Occasional (29-5%) HP:0001533
47 joint hypermobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001382
48 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
49 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
50 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294

Symptoms via clinical synopsis from OMIM:

57
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

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

Cardiovascular Heart:
congestive heart failure
atrial septal defect
ventricular septal defect
aortic valve stenosis
absence of the pulmonary valve
more
Skeletal:
joint laxity

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

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
micropenis

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:

41
Heart, Eye, Brain, Skin

Publications for Chromosome 18q Deletion Syndrome

Articles related to Chromosome 18q Deletion Syndrome:

(show top 50) (show all 140)
# Title Authors PMID Year
1
Direct transmission of the 18q- syndrome from mother to daughter. 38 8
16970036 2006
2
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. 38 8
16100728 2005
3
An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. 38 8
9887335 1999
4
Identification of cryptic rearrangements in patients with 18q- deletion syndrome. 38 8
9585582 1998
5
Growth hormone insufficiency associated with haploinsufficiency at 18q23. 38 8
9286448 1997
6
Growth hormone deficiency associated in the 18q deletion syndrome. 38 8
9066876 1997
7
18q- syndrome in mother and daughter. 38 8
421697 1979
8
Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. 38 8
474629 1979
9
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. 8
22152683 2011
10
Narrowing critical regions and determining penetrance for selected 18q- phenotypes. 8
19533771 2009
11
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. 8
17632778 2007
12
18q deletions: clinical, molecular, and brain MRI findings of 14 individuals. 8
16419126 2006
13
The spectrum of growth abnormalities in children with 18q deletions. 8
11134092 2000
14
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. 8
10405442 1999
15
[Endocrinologic disorders in deletion of chromosome 18]. 8
1614460 1992
16
Growth hormone deficiency in children with chromosomal abnormalities. 8
2378627 1990
17
Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance. 8
495079 1979
18
[18 q deletion in mother and daughter (author's transl)]. 8
997544 1976
19
Familial occurrence of 18q. 8
5507053 1970
20
IgA and partial deletions of chromosome 18. 8
4177984 1969
21
18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. 9 38
14508777 2003
22
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. 9 38
9259379 1997
23
[18q syndrome with deficiency of myelin basic protein (MBP)]. 9 38
8767586 1996
24
Dysmyelinating and demyelinating conditions in infancy. 9 38
8507907 1993
25
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects. 38
31390163 2019
26
Prenatal diagnosis and molecular cytogenetic characterization of partial dup(18q)/del(18p) due to a paternal pericentric inversion 18 in a fetus with multiple anomalies. 38
31122516 2019
27
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. 38
30263129 2018
28
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 38
29451896 2018
29
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria. 38
29142771 2017
30
[Genotype and phenotype analysis of a child with partial 18q deletion syndrome]. 38
28777861 2017
31
Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome. 38
30775158 2017
32
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18. 38
29560252 2017
33
Humoral deficiency in three paediatric patients with genetic diseases. 38
26947896 2016
34
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. 38
25403779 2016
35
Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature. 38
26400529 2015
36
Skin manifestations of chromosome 18q deletion syndrome. 38
26122027 2015
37
Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology. 38
24024746 2015
38
MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination. 38
23332863 2014
39
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. 38
27625852 2013
40
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. 38
23566840 2013
41
Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. 38
23343423 2013
42
Testicular microlithiasis in two boys with a chromosomal abnormality. 38
22919144 2012
43
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability. 38
22302430 2012
44
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. 38
21669507 2012
45
De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. 38
21709416 2011
46
A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations. 38
20034065 2010
47
Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi. 38
20829580 2010
48
Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome. 38
19794103 2009
49
[18q syndrome associated with blepharospasm]. 38
19598144 2009
50
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. 38
19157891 2009

Variations for Chromosome 18q Deletion Syndrome

ClinVar genetic disease variations for Chromosome 18q Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 covers 61 genes, none of which curated to show dosage sensitivity deletion Pathogenic 18:58024137-77996821 :0-0

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 SERPINB8 SERPINB4
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 SERPINB8 SERPINB4
2 protease binding GO:0002020 8.96 SERPINB4 MBP
3 serine-type endopeptidase inhibitor activity GO:0004867 8.62 SERPINB8 SERPINB4

Sources for Chromosome 18q Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....