18P-
MCID: CHR211
MIFTS: 41

Chromosome 18p Deletion Syndrome (18P-)

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

Aliases & Classifications for Chromosome 18p Deletion Syndrome

MalaCards integrated aliases for Chromosome 18p Deletion Syndrome:

Name: Chromosome 18p Deletion Syndrome 58 12 13 45 15 74
De Grouchy Syndrome 12 77 60
18p- Syndrome 58 12 60
Monosomy 18p 12 54 60
Chromosome 18p Deletion 54
18p- 54

Characteristics:

Orphanet epidemiological data:

60
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
many cases due to de novo mutation


HPO:

33
chromosome 18p deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 18p Deletion Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to 18p deletion syndrome and alobar holoprosencephaly. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome). Affiliated tissues include testes, skin and heart, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 77 Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...

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 top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 18p deletion syndrome 33.1 SMCHD1 DEL18P
2 alobar holoprosencephaly 30.1 ZIC2 SIX3 SHH
3 holoprosencephaly 30.0 SHH SIX3 ZIC2
4 facioscapulohumeral muscular dystrophy 1 29.7 SMCHD1 DUX4L1 DUX4
5 chromosome 18p tetrasomy 12.6
6 chromosome 18p duplication 12.6
7 tetrasomy 18p 11.4
8 distal chromosome 18q deletion syndrome 11.3
9 dystonia 11, myoclonic 11.1
10 dystonia 7, torsion 11.1
11 schizophrenia 8 11.1
12 xp22.3 microdeletion syndrome 10.2
13 xq12-q13.3 duplication syndrome 10.1
14 acquired schizencephaly 10.1 SIX3 SHH
15 aural atresia, congenital 10.1
16 patau syndrome 10.1 ZIC2 SIX3 AGO2
17 schizencephaly 10.1 SHH SIX3
18 ichthyosis, congenital, autosomal recessive 1 10.1 APPL1 SULT2B1
19 holoprosencephaly 1 10.0 SHH SIX3
20 pleuropulmonary blastoma 10.0 MB SHH
21 systemic lupus erythematosus 10.0
22 alopecia 10.0
23 immunoglobulin alpha deficiency 10.0
24 heart disease 10.0
25 keratosis 10.0
26 lupus erythematosus 10.0
27 chromosome 20q duplication 10.0
28 midline interhemispheric variant of holoprosencephaly 10.0 ZIC2 SIX3 SHH
29 myopia 10.0
30 septopreoptic holoprosencephaly 10.0 ZIC2 SIX3 SHH
31 lobar holoprosencephaly 10.0 ZIC2 SIX3 SHH
32 immunoglobulin a deficiency 1 10.0
33 dental caries 10.0
34 microform holoprosencephaly 10.0 ZIC2 SIX3 SHH
35 semilobar holoprosencephaly 10.0 ZIC2 SIX3 SHH
36 anxiety 10.0
37 cri-du-chat syndrome 9.9
38 nondisjunction 9.9
39 schizophrenia 9.9
40 alacrima, achalasia, and mental retardation syndrome 9.9
41 ptosis 9.9
42 movement disease 9.9
43 psoriasis 9.9
44 muscular dystrophy 9.9
45 acute contagious conjunctivitis 9.9 APPL1 PTER
46 holoprosencephaly 4 9.9 ZIC2 SHH PTER
47 atrial standstill 1 9.8
48 tetralogy of fallot 9.8
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
50 graves' disease 9.8

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

Human phenotypes related to Chromosome 18p Deletion Syndrome:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
6 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
7 abnormality of the antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0009738
8 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
9 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
10 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
11 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
12 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
13 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
14 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
15 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
16 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
17 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
18 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
19 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
20 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
21 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
22 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
23 enlarged thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100625
24 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
25 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
26 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
27 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
28 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
29 misalignment of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000692
30 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
31 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
32 lymphedema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001004
33 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
34 autoimmunity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002960
35 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
36 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
37 generalized dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007325
38 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
39 hypertelorism 33 HP:0000316
40 clinodactyly 33 HP:0030084
41 high palate 33 HP:0000218
42 anteverted nares 33 HP:0000463
43 malformation of the heart and great vessels 60 Occasional (29-5%)
44 cryptorchidism 33 HP:0000028
45 dystonia 33 HP:0001332
46 decreased testicular size 33 HP:0008734
47 round face 33 HP:0000311
48 micropenis 33 HP:0000054
49 gonadal dysgenesis 33 HP:0000133
50 radial deviation of finger 33 HP:0009466

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
high palate
micrognathia

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Hands:
clinodactyly

Growth Height:
short stature

Neurologic Central Nervous System:
dystonia
developmental delay
mental retardation

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

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.27 DUX4L7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.27 DUX4L7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.27 DUX4 DUX4L8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.27 DUX4 DUX4L8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.27 DUX4 DUX4L7 DUX4L8 PTER
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.27 DUX4L7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.27 DUX4 DUX4L7 DUX4L8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.27 DUX4 DUX4L7 DUX4L8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.27 DUX4 DUX4L8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.27 DUX4 DUX4L7 DUX4L8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.27 PTER
12 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.27 PTER
13 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.27 PTER
14 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.27 DUX4L7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.27 PTER
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.27 PTER
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.27 DUX4 DUX4L7 DUX4L8 PTER

MGI Mouse Phenotypes related to Chromosome 18p Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.5 AGO2 LAMA1 MB SHH SIX3 SMCHD1
2 taste/olfaction MP:0005394 8.8 GNAL 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:

42
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
4
Anterior segment malformations in 18q- (de Grouchy) syndrome. ( 8233359 )
1993

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

GO Terms for Chromosome 18p Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 anatomical structure development GO:0048856 9.26 SHH SIX3
2 epithelial tube branching involved in lung morphogenesis GO:0060441 9.16 LAMA1 SHH
3 branching involved in salivary gland morphogenesis GO:0060445 8.96 LAMA1 SHH
4 telencephalon regionalization GO:0021978 8.62 SHH SIX3

Sources for Chromosome 18p Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....