MCID: CHR211
MIFTS: 40

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 54 12 13 42 14 69
De Grouchy Syndrome 12 72 56
Monosomy 18p 12 50 56
18p- Syndrome 12 56
Chromosome 18p Deletion 50
De Grouchy Syndrome 1 72
18p- 50

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
many cases due to de novo mutation


HPO:

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


Classifications:



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 distal chromosome 18q deletion syndrome and 18p deletion syndrome, and has symptoms including short stature, ptosis and microcephaly. 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

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 distal chromosome 18q deletion syndrome 11.0
2 18p deletion syndrome 10.1
3 deafness, autosomal dominant 53 10.0 APPL1 SULT2B1
4 fas-related autoimmune lymphoproliferative syndrome 10.0 SHH SIX3
5 microphthalmia with coloboma 5 10.0 SHH SIX3
6 holoprosencephaly 2 10.0 SHH SIX3
7 alopecia areata 1 9.9 PTER SHH
8 cataract 44 9.9 SHH SIX3
9 small intestine diverticulitis 9.9 APPL1 PTER
10 holoprosencephaly 9.8
11 dental caries 9.8
12 dysbaric osteonecrosis 9.8 APPL1 PTER
13 ischemia 9.7 AGO2 MB
14 hypotrichosis of eyelid 9.7 AGO2 NODAL SIX3 ZIC2
15 schizencephaly 9.7 SHH SIX3
16 tetrasomy 18p 9.6
17 azoospermia 9.6
18 gonadal dysgenesis 9.6
19 agnathia-otocephaly complex 9.6 NODAL SHH
20 goiter, multinodular 1, with or without sertoli-leydig cell tumors 9.6 MB SHH
21 sporadic pheochromocytoma 9.4 NODAL SHH SIX3 ZIC2
22 celosomia 9.4 NODAL SHH SIX3 ZIC2
23 pelizaeus-merzbacher disease in female carriers 9.4 NODAL SHH SIX3 ZIC2
24 laryngotracheoesophageal cleft type 2 9.4 NODAL SHH SIX3 ZIC2
25 laryngotracheoesophageal cleft type 4 9.4 NODAL SHH SIX3 ZIC2
26 isolated facial myokymia 9.4 NODAL SHH SIX3 ZIC2
27 hydrocephalus 9.3 NODAL SHH SIX3 ZIC2
28 angiodysplasia 8.9 NODAL PTER SHH SIX3 ZIC2
29 shwachman-diamond type metaphyseal dysplasia 8.9 NODAL PTER SHH SIX3 ZIC2
30 majeed syndrome 6.2 AGO2 APPL1 DEL18P GNAL MB NODAL

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:

54

Growth- Height:
short stature

Head And Neck- Mouth:
micrognathia
high palate

Genitourinary- External Genitalia Male:
micropenis
gonadal dysgenesis
hypoplastic testes

Head And Neck- Face:
round face

Skeletal- Hands:
clinodactyly

Head And Neck- Nose:
broad nasal bridge
upturned nostrils

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

Head And Neck- Neck:
redundant neck skin

Neurologic- Central Nervous System:
mental retardation
dystonia
developmental delay

Head And Neck- Ears:
large ears
dysplastic ears

Head And Neck- Eyes:
hypertelorism

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Weight:
low birth weight

Head And Neck- Teeth:
malaligned teeth

Genitourinary- Internal Genitalia Female:
gonadal dysgenesis

Genitourinary- External Genitalia Female:
hypoplastic genitalia


Clinical features from OMIM:

146390

Human phenotypes related to Chromosome 18p Deletion Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
3 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
4 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
5 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
6 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
9 short philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000322
10 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
12 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
13 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
14 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
15 hypodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000668
16 low posterior hairline 56 32 frequent (33%) Frequent (79-30%) HP:0002162
17 holoprosencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001360
18 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
19 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
20 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
21 downturned corners of mouth 56 32 frequent (33%) Frequent (79-30%) HP:0002714
22 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
23 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
24 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
25 enlarged thorax 56 32 frequent (33%) Frequent (79-30%) HP:0100625
26 wide intermamillary distance 56 32 frequent (33%) Frequent (79-30%) HP:0006610
27 protruding ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0000411
28 abnormality of the antihelix 56 32 hallmark (90%) Very frequent (99-80%) HP:0009738
29 misalignment of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000692
30 brachydactyly 32 hallmark (90%) HP:0001156
31 dystonia 32 HP:0001332
32 micropenis 32 HP:0000054
33 hypertelorism 32 HP:0000316
34 round face 32 HP:0000311
35 cryptorchidism 32 HP:0000028
36 clinodactyly 32 HP:0030084
37 high palate 32 HP:0000218
38 gonadal dysgenesis 32 HP:0000133
39 small for gestational age 32 HP:0001518
40 redundant neck skin 32 HP:0005989
41 decreased testicular size 32 HP:0008734
42 malformation of the heart and great vessels 56 Occasional (29-5%)
43 brachydactyly syndrome 56 Very frequent (99-80%)
44 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
45 radial deviation of finger 32 HP:0009466

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 PTER AGO2 GNAL
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 MB NODAL SHH SIX3 ZIC2 AGO2
2 embryo MP:0005380 9.73 AGO2 MB NODAL SHH SIX3 ZIC2
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 13)
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 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:

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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