MCID: CHR382
MIFTS: 38

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 56 12 13 15
18q- Syndrome 56 12 58 54
Deletion 18q 12 58
Monosomy 18q 12 58
Deletion of Long Arm of Chromosome 18 71
Chromosome 18 Deletion Syndrome 43
Chromosome 18q- Syndrome 56
Chromosome 18q Deletion 52
18q Deletion Syndrome 58

Characteristics:

OMIM:

56
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:

31
chromosome 18q deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 18q Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.

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 eye, heart and brain, and related phenotypes are global developmental delay and delayed skeletal maturation

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 124)
# 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 deficiency anemia 10.1
12 growth hormone deficiency 10.1
13 anorectal anomalies 10.0
14 coarctation of aorta 10.0
15 papillomatosis, confluent and reticulated 10.0
16 chromosome 2q35 duplication syndrome 10.0
17 retinitis pigmentosa 11 10.0
18 umbilical hernia 10.0
19 dermatitis 10.0
20 chromosome 10p duplication 10.0
21 chromosome 10q duplication 10.0
22 chromosome 2q duplication 10.0
23 chromosome 4q duplication 10.0
24 chromosome 5q duplication 10.0
25 chromosome 6p duplication 10.0
26 chromosome 9p duplication 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 balo concentric sclerosis 10.0 MBP GJC2
32 immune deficiency disease 10.0
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
34 alacrima, achalasia, and mental retardation syndrome 10.0
35 heart septal defect 10.0
36 atrial heart septal defect 10.0
37 thyroiditis 10.0
38 diabetes mellitus 10.0
39 microcephaly 10.0
40 cleft lip 10.0
41 47,xyy 10.0
42 ring chromosome 10.0
43 central pontine myelinolysis 10.0 MBP GJC2
44 beckwith-wiedemann syndrome 9.9
45 protoporphyria, erythropoietic, 1 9.9
46 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
47 porphyria, congenital erythropoietic 9.9
48 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
49 aural atresia, congenital 9.9
50 spinal 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:

58 31 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
4 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
5 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
6 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
7 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
8 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
12 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
13 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
14 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
15 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
16 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
17 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
18 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
19 bilateral conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008513
20 abnormal palmar dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0001018
21 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
22 abnormal retinal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000479
23 secondary growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008240
24 poor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002370
25 pulmonary valve defects 58 31 frequent (33%) Frequent (79-30%) HP:0005148
26 diffuse white matter abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0007204
27 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
28 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
29 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
32 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
33 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
34 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
35 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
36 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
37 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
38 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
39 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
40 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
41 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
42 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
43 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
44 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
45 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
46 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
47 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
48 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
49 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
50 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia
umbilical hernia
prominent abdominal venous pattern

Head And Neck Neck:
short neck

Respiratory:
recurrent respiratory infections

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

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

Respiratory Airways:
asthma

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 Eyes:
hypertelorism
optic atrophy
nystagmus
strabismus
tapetoretinal degeneration
more
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
seizures
tremor
chorea
cerebellar hypoplasia
poor coordination
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
thin upper lip
downturned corners of the mouth
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis
hypospadias

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

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

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:

40
Eye, Heart, Brain, Skin

Publications for Chromosome 18q Deletion Syndrome

Articles related to Chromosome 18q Deletion Syndrome:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Direct transmission of the 18q- syndrome from mother to daughter. 56 61
16970036 2006
2
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. 56 61
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. 61 56
9887335 1999
4
Identification of cryptic rearrangements in patients with 18q- deletion syndrome. 56 61
9585582 1998
5
Growth hormone insufficiency associated with haploinsufficiency at 18q23. 61 56
9286448 1997
6
Growth hormone deficiency associated in the 18q deletion syndrome. 56 61
9066876 1997
7
18q- syndrome in mother and daughter. 61 56
421697 1979
8
Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. 56 61
474629 1979
9
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. 56
22152683 2011
10
Narrowing critical regions and determining penetrance for selected 18q- phenotypes. 56
19533771 2009
11
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. 56
17632778 2007
12
18q deletions: clinical, molecular, and brain MRI findings of 14 individuals. 56
16419126 2006
13
The spectrum of growth abnormalities in children with 18q deletions. 56
11134092 2000
14
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. 56
10405442 1999
15
[Endocrinologic disorders in deletion of chromosome 18]. 56
1614460 1992
16
Growth hormone deficiency in children with chromosomal abnormalities. 56
2378627 1990
17
Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance. 56
495079 1979
18
[18 q deletion in mother and daughter (author's transl)]. 56
997544 1976
19
Familial occurrence of 18q. 56
5507053 1970
20
IgA and partial deletions of chromosome 18. 56
4177984 1969
21
18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. 61 54
14508777 2003
22
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. 54 61
9259379 1997
23
[18q syndrome with deficiency of myelin basic protein (MBP)]. 54 61
8767586 1996
24
Dysmyelinating and demyelinating conditions in infancy. 61 54
8507907 1993
25
Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication. 61
32468472 2020
26
Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation. 61
32087092 2019
27
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects. 61
31390163 2019
28
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. 61
31122516 2019
29
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. 61
30263129 2018
30
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 61
29451896 2018
31
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria. 61
29142771 2017
32
[Genotype and phenotype analysis of a child with partial 18q deletion syndrome]. 61
28777861 2017
33
Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome. 61
30775158 2017
34
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18. 61
29560252 2017
35
Humoral deficiency in three paediatric patients with genetic diseases. 61
26947896 2016
36
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. 61
25403779 2016
37
Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature. 61
26400529 2015
38
Skin manifestations of chromosome 18q deletion syndrome. 61
26122027 2015
39
Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology. 61
24024746 2015
40
MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination. 61
23332863 2014
41
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. 61
27625852 2013
42
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. 61
23566840 2013
43
Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. 61
23343423 2013
44
Testicular microlithiasis in two boys with a chromosomal abnormality. 61
22919144 2012
45
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability. 61
22302430 2012
46
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. 61
21669507 2012
47
De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. 61
21709416 2011
48
Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi. 61
20829580 2010
49
A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations. 61
20034065 2010
50
Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome. 61
19794103 2009

Variations for Chromosome 18q Deletion Syndrome

ClinVar genetic disease variations for Chromosome 18q Deletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 61 genes, none of which curated to show dosage sensitivity deletion Pathogenic 626290 18:58024137-77996821

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

7
# CNVD ID Chromosome 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

Cellular components related to Chromosome 18q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.62 MBP GJC2

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 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....