MCID: CHR382
MIFTS: 34

Chromosome 18q Deletion Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases, Genetic 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 73
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:
Onset and clinical course phenotypic variability
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 skin, and related phenotypes are pectus excavatum and high palate

Description 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:

# Related Disease Score Top Affiliating Genes
1 distal chromosome 18q deletion syndrome 12.5
2 proximal chromosome 18q deletion syndrome 12.4
3 diabetes mellitus 9.9

Symptoms & Phenotypes for Chromosome 18q Deletion Syndrome

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
vertical talus
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

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 Heart:
congestive heart failure
atrial septal defect
ventricular septal defect
aortic valve stenosis
absence of the pulmonary valve
more
Head And Neck Face:
short philtrum
flat midface
midface hypoplasia
prognathism
narrow biparietal diameter

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

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 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 intellectual disability 59 32 Frequent (79-30%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
8 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
11 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
12 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
13 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
14 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
15 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
16 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
17 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
18 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
19 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
20 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
21 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
22 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
23 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
24 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
25 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
26 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
27 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
28 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
29 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
30 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
31 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
32 slender build 59 32 occasional (7.5%) Occasional (29-5%) HP:0001533
33 joint hypermobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001382
34 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
35 open mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000194
36 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
37 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
38 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
39 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294
40 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
41 astrocytoma 59 32 very rare (1%) Very rare (<4-1%) HP:0009592
42 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
43 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
44 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
45 pulmonary valve defects 59 32 frequent (33%) Frequent (79-30%) HP:0005148
46 diffuse white matter abnormalities 59 32 frequent (33%) Frequent (79-30%) HP:0007204
47 secondary growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008240
48 bilateral conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008513
49 abnormal myelination 59 32 frequent (33%) Frequent (79-30%) HP:0012447
50 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448

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, Skin

Publications for Chromosome 18q Deletion Syndrome

Articles related to Chromosome 18q Deletion Syndrome:

# Title Authors Year
1
Skin manifestations of chromosome 18q deletion syndrome. ( 26122027 )
2015
2
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency. ( 25403779 )
2014

Variations for Chromosome 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 SERPINB4 SERPINB8

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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