18P-
MCID: CHR211
MIFTS: 38

Chromosome 18p Deletion Syndrome (18P-) malady

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

Aliases & Classifications for Chromosome 18p Deletion Syndrome

Aliases & Descriptions for Chromosome 18p Deletion Syndrome:

Name: Chromosome 18p Deletion Syndrome 54 12 13 42 14 69
De Grouchy Syndrome 12 71 56
Monosomy 18p 12 50 56
18p- Syndrome 12 56
Chromosome 18p Deletion 50
De Grouchy Syndrome 1 71
18p- 50

Characteristics:

Orphanet epidemiological data:

56
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 146390
Disease Ontology 12 DOID:0060406
MeSH 42 C538309
NCIt 47 C84521
Orphanet 56 ORPHA1598
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 70 C0432442
UMLS 69 C0432442

Summaries for Chromosome 18p Deletion Syndrome

NIH Rare Diseases : 50 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 18p deletion syndrome and distal chromosome 18q 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, heart and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

Description from OMIM: 146390

Related Diseases for Chromosome 18p Deletion Syndrome

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 by clinical synopsis from OMIM:

146390

Clinical features from OMIM:

146390

Human phenotypes related to Chromosome 18p Deletion Syndrome:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Frequent (79-30%) HP:0000470
2 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
3 ptosis 56 32 Frequent (79-30%) HP:0000508
4 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
5 hypertension 56 32 Frequent (79-30%) HP:0000822
6 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 macrotia 56 32 Very frequent (99-80%) HP:0000400
9 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
10 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
11 carious teeth 56 32 Frequent (79-30%) HP:0000670
12 microcephaly 56 32 Frequent (79-30%) HP:0000252
13 short stature 56 32 Very frequent (99-80%) HP:0004322
14 brachycephaly 56 32 Frequent (79-30%) HP:0000248
15 cleft palate 56 32 Frequent (79-30%) HP:0000175
16 micrognathia 56 32 Frequent (79-30%) HP:0000347
17 epicanthus 56 32 Frequent (79-30%) HP:0000286
18 lymphedema 56 32 Occasional (29-5%) HP:0001004
19 enlarged thorax 56 32 Frequent (79-30%) HP:0100625
20 low posterior hairline 56 32 Frequent (79-30%) HP:0002162
21 wide intermamillary distance 56 32 Frequent (79-30%) HP:0006610
22 protruding ear 56 32 Very frequent (99-80%) HP:0000411
23 short philtrum 56 32 Very frequent (99-80%) HP:0000322
24 microphthalmia 56 32 Occasional (29-5%) HP:0000568
25 abnormality of the antihelix 56 32 Very frequent (99-80%) HP:0009738
26 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
27 downturned corners of mouth 56 32 Frequent (79-30%) HP:0002714
28 hypodontia 56 32 Very frequent (99-80%) HP:0000668
29 holoprosencephaly 56 32 Occasional (29-5%) HP:0001360
30 misalignment of teeth 56 32 Frequent (79-30%) HP:0000692
31 dystonia 32 HP:0001332
32 hypertelorism 32 HP:0000316
33 clinodactyly 32 HP:0030084
34 high palate 32 HP:0000218
35 malformation of the heart and great vessels 56 Occasional (29-5%)
36 cryptorchidism 32 HP:0000028
37 decreased testicular size 32 HP:0008734
38 round face 32 HP:0000311
39 abnormality of cardiovascular system morphology 32 HP:0030680
40 micropenis 32 HP:0000054
41 gonadal dysgenesis 32 HP:0000133
42 radial deviation of finger 32 HP:0009466
43 small for gestational age 32 HP:0001518
44 redundant neck skin 32 HP:0005989

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

26
id 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:

44
id 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 SIX3 ZIC2 AGO2 MB NODAL SHH
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:

39
Testes, Heart, Skin, Eye

Publications for Chromosome 18p Deletion Syndrome

Articles related to Chromosome 18p Deletion Syndrome:

id 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:

id 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 14)
id 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 camera-type eye development GO:0043010 9.54 SHH SIX3
4 negative regulation of cell differentiation GO:0045596 9.52 NODAL SHH
5 cell fate commitment GO:0045165 9.51 NODAL SHH
6 heart looping GO:0001947 9.49 NODAL SHH
7 negative regulation of Wnt signaling pathway GO:0030178 9.48 SHH SIX3
8 cell development GO:0048468 9.46 NODAL SHH
9 embryonic pattern specification GO:0009880 9.37 NODAL SHH
10 vasculature development GO:0001944 9.32 NODAL SHH
11 anatomical structure formation involved in morphogenesis GO:0048646 9.26 NODAL SHH
12 digestive tract morphogenesis GO:0048546 9.16 NODAL SHH
13 telencephalon regionalization GO:0021978 8.96 SHH SIX3
14 formation of anatomical boundary GO:0048859 8.62 NODAL SHH

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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