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18P-
MCID: CHR211
MIFTS: 38

Chromosome 18p Deletion Syndrome (18P-)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Chromosome 18p Deletion Syndrome

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MalaCards integrated aliases for Chromosome 18p Deletion Syndrome:

Name: Chromosome 18p Deletion Syndrome 56 12 13 43 15 71
De Grouchy Syndrome 12 74 58
18p- Syndrome 56 12 58
Monosomy 18p 12 52 58
Chromosome 18p Deletion 52
18p- 52

Characteristics:

Orphanet epidemiological data:

58
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
many cases due to de novo mutation


HPO:

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


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Chromosome 18p Deletion Syndrome

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NIH Rare Diseases : 52 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 partial deletion of the short arm of chromosome 18. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome). Affiliated tissues include testes, heart and thyroid, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 74 Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...

More information from OMIM: 146390
Sources

Related Diseases for Chromosome 18p Deletion Syndrome

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 18p deletion syndrome 32.9 SMCHD1 DEL18P
2 partial deletion of the short arm of chromosome 18 11.7
3 tetrasomy 18p 11.6
4 schizophrenia 8 11.5
5 distal chromosome 18q deletion syndrome 11.5
6 partial trisomy/tetrasomy of the short arm of chromosome 18 11.4
7 dystonia 11, myoclonic 11.2
8 47,xyy 10.3
9 down syndrome 10.3
10 microcephaly 10.3
11 nondisjunction 10.2
12 dermatitis, atopic 10.2
13 chromosome 18q duplication 10.2
14 alobar holoprosencephaly 10.2
15 strabismus 10.1
16 mechanical strabismus 10.1
17 chromosomal triplication 10.1
18 chromosome 18q deletion syndrome 10.1
19 aural atresia, congenital 10.1
20 microphthalmia 10.1
21 myopia 10.1
22 48,xyyy 10.1
23 movement disease 10.1
24 spasticity 10.1
25 cri-du-chat syndrome 10.0
26 otitis media 10.0
27 chromosome 18 pericentric inversion 10.0
28 major affective disorder 8 10.0
29 major affective disorder 9 10.0
30 scoliosis 10.0
31 bipolar disorder 10.0
32 refractive error 10.0
33 complex chromosomal rearrangement 10.0
34 ige responsiveness, atopic 10.0
35 systemic lupus erythematosus 10.0
36 facioscapulohumeral muscular dystrophy 1 10.0
37 facioscapulohumeral muscular dystrophy 2 10.0
38 anus, imperforate 10.0
39 keratosis pilaris atrophicans 10.0
40 orofacial cleft 10.0
41 keratosis 10.0
42 ichthyosis 10.0
43 alopecia 10.0
44 muscular dystrophy 10.0
45 alopecia totalis 10.0
46 chromosome 20q duplication 10.0
47 chromosome 21q duplication 10.0
48 chromosome 4p duplication 10.0
49 chromosome 8q duplication 10.0
50 chromosome 9p duplication 10.0

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



Diseases related to Chromosome 18p Deletion Syndrome
Sources

Symptoms & Phenotypes for Chromosome 18p Deletion Syndrome

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Human phenotypes related to Chromosome 18p Deletion Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
7 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
8 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
9 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
12 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
13 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
14 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
15 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
16 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
17 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
18 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
19 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
20 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
21 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
22 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
23 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
24 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
25 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
26 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
27 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
28 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
29 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
30 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
31 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
32 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
33 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
34 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
35 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
36 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
37 generalized dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007325
38 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
39 hypertelorism 31 HP:0000316
40 clinodactyly 31 HP:0030084
41 high palate 31 HP:0000218
42 cryptorchidism 31 HP:0000028
43 anteverted nares 31 HP:0000463
44 malformation of the heart and great vessels 58 Occasional (29-5%)
45 dystonia 31 HP:0001332
46 decreased testicular size 31 HP:0008734
47 micropenis 31 HP:0000054
48 round face 31 HP:0000311
49 gonadal dysgenesis 31 HP:0000133
50 small for gestational age 31 HP:0001518

Symptoms via clinical synopsis from OMIM:

56
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

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

Head And Neck Face:
round face

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
Sources

Drugs & Therapeutics for Chromosome 18p Deletion Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Association Between Breastfeeding and Likelihood of Myopia in 6-7 Years Old Children Completed NCT01013493

Search NIH Clinical Center for Chromosome 18p Deletion Syndrome

Cochrane evidence based reviews: chromosome 18p deletion syndrome

Sources

Genetic Tests for Chromosome 18p Deletion Syndrome

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Sources

Anatomical Context for Chromosome 18p Deletion Syndrome

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

40
Testes, Heart, Thyroid, Skin, Myeloid, Pituitary, Eye
Sources

Publications for Chromosome 18p Deletion Syndrome

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Articles related to Chromosome 18p Deletion Syndrome:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. 56
16691587 2006
2
Familial Del(18p) syndrome. 56
11170097 2001
3
Familial deletion of chromosome 18 (p11.2). 56
9037347 1996
4
18p- syndrome and hypopituitarism. 56
1404301 1992
5
Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. 56
6606374 1983
6
[Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18]. 56
825713 1976
7
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. 56
4705937 1973
8
FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA. 56
14334740 1965
9
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18. 61
31679365 2019
10
[Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q]. 61
31030439 2019
11
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports. 61
30946338 2019
12
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing. 61
31890033 2019
13
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. 61
30244536 2018
14
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. 61
29563141 2018
15
Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report. 61
28513240 2017
16
A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis. 61
24797099 2014
17
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome. 61
24801913 2014
18
Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. 61
25634515 2014
19
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. 61
24091065 2014
20
Alopecia totalis in monosomy 18p. 61
24413381 2013
21
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. 61
23850725 2013
22
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. 61
27625852 2013
23
A Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA. 61
24265591 2013
24
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature. 61
22302461 2012
25
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. 61
23705090 2011
26
Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly. 61
21791305 2011
27
Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus. 61
21383556 2011
28
A rare case of monosomy 18p: translocation between chromosomes 18 and 21. 61
21848017 2011
29
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. 61
20635794 2010
30
A case of monosomy 18p diagnosed on the basis of an isolated finding of increased nuchal fold thickness. 61
19697209 2009
31
Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. 61
19643791 2009
32
Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype. 61
19226522 2009
33
Prenatal diagnosis of monosomy 18p involving a jumping translocation. 61
18561286 2008
34
Monosomy 18p. 61
18284672 2008
35
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. 61
17786116 2007
36
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. 61
17024214 2007
37
Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q. 61
16957478 2006
38
An unusual case of monosomy 18p: minor malformations with speech delay. 61
16052867 2005
39
Partial trisomy 8q and partial monosomy 18p: a case report. 61
15581839 2004
40
Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis. 61
15057945 2004
41
Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype? 61
12838568 2003
42
Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features. 61
12514362 2003
43
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. 61
12150215 2002
44
Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. 61
11746025 2001
45
Further clinical delineation in trisomy 1q32 syndrome. 61
11755100 2001
46
Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders. 61
11454427 2001
47
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. 61
11360273 2001
48
Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. 61
11298684 2001
49
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. 61
10797432 2000
50
Dental caries history in nine children with chromosome 18p deletion syndrome. 61
11203878 2000
Sources

Variations for Chromosome 18p Deletion Syndrome

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Expression for Chromosome 18p Deletion Syndrome

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

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GO Terms for Chromosome 18p Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.8 SMCHD1 METTL4 L3MBTL4
Sources

Sources for Chromosome 18p Deletion Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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