MCID: CHR211
MIFTS: 43

Chromosome 18p Deletion Syndrome

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

Aliases & Classifications for Chromosome 18p Deletion Syndrome

MalaCards integrated aliases for Chromosome 18p Deletion Syndrome:

Name: Chromosome 18p Deletion Syndrome 53 12 13 41 14 69
De Grouchy Syndrome 12 72 55
18p- Syndrome 53 12 55
Monosomy 18p 12 49 55
Chromosome 18p Deletion 49
18p- 49

Characteristics:

Orphanet epidemiological data:

55
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
many cases due to de novo mutation


HPO:

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


Classifications:



Summaries for Chromosome 18p Deletion Syndrome

NIH Rare Diseases : 49 Chromosome 18p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 18p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 18p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. Last updated: 5/17/2016

MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to holoprosencephaly and 18p deletion syndrome, and has symptoms including short neck, pectus excavatum and ptosis. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome), and among its related pathways/superpathways are Differentiation Pathway and Tgif disruption of Shh signaling. Affiliated tissues include testes, skin and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 146390

Related Diseases for Chromosome 18p Deletion Syndrome

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 29.0 NODAL SHH SIX3 ZIC2
2 18p deletion syndrome 11.5
3 tetrasomy 18p 11.2
4 distal chromosome 18q deletion syndrome 11.1
5 acquired schizencephaly 10.0 SHH SIX3
6 acute contagious conjunctivitis 9.9 APPL1 PTER
7 holoprosencephaly 1 9.9 SHH SIX3
8 agnathia-otocephaly complex 9.9 NODAL SHH
9 immunoglobulin a deficiency 1 9.9
10 dental caries 9.9
11 botryoid rhabdomyosarcoma 9.8 AGO2 MB
12 schizencephaly 9.8 SHH SIX3
13 ichthyosis, congenital, autosomal recessive 1 9.8 APPL1 SULT2B1
14 patau syndrome 9.7 AGO2 NODAL SIX3 ZIC2
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
16 azoospermia 9.7
17 gonadal dysgenesis 9.7
18 chromosome 18p duplication 9.7
19 chromosome 18p tetrasomy 9.7
20 pleuropulmonary blastoma 9.7 MB SHH
21 orofacial cleft 9.7 NODAL PTER SHH
22 holoprosencephaly 4 9.7 PTER SHH ZIC2
23 chromosomal disease 9.6 APPL1 PTER
24 septopreoptic holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
25 midline interhemispheric variant of holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
26 microform holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
27 alobar holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
28 lobar holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
29 semilobar holoprosencephaly 9.5 NODAL SHH SIX3 ZIC2
30 congenital nervous system abnormality 9.1 NODAL PTER SHH SIX3 ZIC2
31 physical disorder 9.1 NODAL PTER SHH SIX3 ZIC2

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



Diseases related to Chromosome 18p Deletion Syndrome

Symptoms & Phenotypes for Chromosome 18p Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
developmental delay
mental retardation

Skeletal Hands:
clinodactyly

Growth Height:
short stature

Head And Neck Face:
round face

Genitourinary Internal Genitalia Female:
gonadal dysgenesis

Head And Neck Nose:
broad nasal bridge
upturned nostrils

Growth Weight:
low birth weight

Genitourinary External Genitalia Female:
hypoplastic genitalia

Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
high palate
micrognathia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis
gonadal dysgenesis
hypoplastic testes

Head And Neck Neck:
redundant neck skin

Head And Neck Ears:
dysplastic ears
large ears

Head And Neck Teeth:
malaligned teeth

Laboratory Abnormalities:
deletion of chromosome 18p11.2
contiguous gene deletion syndrome


Clinical features from OMIM:

146390

Human phenotypes related to Chromosome 18p Deletion Syndrome:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
3 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
4 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
5 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
8 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
9 behavioral abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0000708
10 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
11 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
12 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
13 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
14 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
15 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
16 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
17 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
18 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
19 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
20 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
21 enlarged thorax 55 31 frequent (33%) Frequent (79-30%) HP:0100625
22 wide intermamillary distance 55 31 frequent (33%) Frequent (79-30%) HP:0006610
23 webbed neck 55 31 frequent (33%) Frequent (79-30%) HP:0000465
24 low posterior hairline 55 31 frequent (33%) Frequent (79-30%) HP:0002162
25 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
26 autoimmunity 55 31 occasional (7.5%) Occasional (29-5%) HP:0002960
27 protruding ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0000411
28 short philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000322
29 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
30 abnormality of the antihelix 55 31 hallmark (90%) Very frequent (99-80%) HP:0009738
31 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
32 downturned corners of mouth 55 31 frequent (33%) Frequent (79-30%) HP:0002714
33 hypodontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000668
34 holoprosencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001360
35 kyphoscoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002751
36 misalignment of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000692
37 generalized dystonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007325
38 dystonia 31 HP:0001332
39 hypertelorism 31 HP:0000316
40 clinodactyly 31 HP:0030084
41 high palate 31 HP:0000218
42 anteverted nares 31 HP:0000463
43 malformation of the heart and great vessels 55 Occasional (29-5%)
44 cryptorchidism 31 HP:0000028
45 decreased testicular size 31 HP:0008734
46 round face 31 HP:0000311
47 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
48 micropenis 31 HP:0000054
49 gonadal dysgenesis 31 HP:0000133
50 radial deviation of finger 31 HP:0009466

GenomeRNAi Phenotypes related to Chromosome 18p Deletion Syndrome according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 AGO2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 AGO2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 GNAL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.68 AGO2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 GNAL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.68 AGO2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 AGO2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.68 AGO2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.68 AGO2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.68 GNAL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 PTER
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 GNAL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.68 AGO2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 PTER
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 PTER
16 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.68 PTER
17 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.68 GNAL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 PTER
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.68 AGO2 GNAL PTER
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.68 PTER
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 AGO2

MGI Mouse Phenotypes related to Chromosome 18p Deletion Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 AGO2 APPL1 GNAL MB NODAL SHH
2 embryo MP:0005380 9.73 MB NODAL SHH SIX3 ZIC2 AGO2
3 mortality/aging MP:0010768 9.56 AGO2 APPL1 GNAL MB NODAL SHH
4 taste/olfaction MP:0005394 8.92 GNAL NODAL SHH SIX3

Drugs & Therapeutics for Chromosome 18p Deletion Syndrome

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

Cochrane evidence based reviews: chromosome 18p deletion syndrome

Genetic Tests for Chromosome 18p Deletion Syndrome

Anatomical Context for Chromosome 18p Deletion Syndrome

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

38
Testes, Skin, Heart, Eye

Publications for Chromosome 18p Deletion Syndrome

Articles related to Chromosome 18p Deletion Syndrome:

# Title Authors Year
1
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23850725 )
2013
2
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
3
Dental caries history in nine children with chromosome 18p deletion syndrome. ( 11203878 )
2000

Variations for Chromosome 18p Deletion Syndrome

Expression for Chromosome 18p Deletion Syndrome

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

Pathways for Chromosome 18p Deletion Syndrome

Pathways related to Chromosome 18p Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 NODAL SHH
2 9.58 NODAL SHH

GO Terms for Chromosome 18p Deletion Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.61 NODAL SIX3 ZIC2
2 heart development GO:0007507 9.58 MB NODAL SHH
3 negative regulation of cell differentiation GO:0045596 9.52 NODAL SHH
4 heart looping GO:0001947 9.51 NODAL SHH
5 cell fate commitment GO:0045165 9.49 NODAL SHH
6 negative regulation of Wnt signaling pathway GO:0030178 9.48 SHH SIX3
7 cell development GO:0048468 9.46 NODAL SHH
8 embryonic pattern specification GO:0009880 9.37 NODAL SHH
9 vasculature development GO:0001944 9.32 NODAL SHH
10 anatomical structure formation involved in morphogenesis GO:0048646 9.26 NODAL SHH
11 digestive tract morphogenesis GO:0048546 9.16 NODAL SHH
12 telencephalon regionalization GO:0021978 8.96 SHH SIX3
13 formation of anatomical boundary GO:0048859 8.62 NODAL SHH

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

# Name GO ID Score Top Affiliating Genes
1 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Chromosome 18p Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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