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 57 12 13 44 15 72
De Grouchy Syndrome 12 75 59
18p- Syndrome 57 12 59
Monosomy 18p 12 53 59
Chromosome 18p Deletion 53
18p- 53

Characteristics:

Orphanet epidemiological data:

59
monosomy 18p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
many cases due to de novo mutation


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0060406
OMIM 57 146390
MeSH 44 C538309
NCIt 50 C84521
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C0432442
Orphanet 59 ORPHA1598
MedGen 42 C0432442
UMLS 72 C0432442

Summaries for Chromosome 18p Deletion Syndrome

NIH Rare Diseases : 53 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, heart and skin, and related phenotypes are intellectual disability and global developmental delay

Wikipedia : 75 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

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 239)
# Related Disease Score Top Affiliating Genes
1 18p deletion syndrome 33.6 SMCHD1 DEL18P
2 alobar holoprosencephaly 30.4 ZIC2 SIX3 SHH
3 holoprosencephaly 30.2 ZIC2 SIX3 SHH
4 facioscapulohumeral muscular dystrophy 1 29.6 SMCHD1 DUX4L1 DUX4
5 chromosome 18p tetrasomy 12.6
6 partial deletion of the short arm of chromosome 18 11.7
7 tetrasomy 18p 11.5
8 schizophrenia 8 11.5
9 distal chromosome 18q deletion syndrome 11.5
10 partial trisomy/tetrasomy of the short arm of chromosome 18 11.4
11 dystonia 11, myoclonic 11.2
12 47,xyy 10.3
13 down syndrome 10.3
14 microcephaly 10.3
15 patau syndrome 10.2 ZIC2 SIX3 AGO2
16 nondisjunction 10.2
17 dermatitis, atopic 10.2
18 chromosome 18q duplication 10.2
19 midline interhemispheric variant of holoprosencephaly 10.1 ZIC2 SIX3 SHH
20 strabismus 10.1
21 mechanical strabismus 10.1
22 chromosomal triplication 10.1
23 chromosome 18q deletion syndrome 10.1
24 aural atresia, congenital 10.1
25 microphthalmia 10.1
26 myopia 10.1
27 48,xyyy 10.1
28 septopreoptic holoprosencephaly 10.1 ZIC2 SIX3 SHH
29 holoprosencephaly 1 10.1 SIX3 SHH
30 lobar holoprosencephaly 10.1 ZIC2 SIX3 SHH
31 ichthyosis, congenital, autosomal recessive 1 10.1 SULT2B1 APPL1
32 spasticity 10.1
33 pleuropulmonary blastoma 10.1 SHH MB
34 cri-du-chat syndrome 10.0
35 otitis media 10.0
36 chromosome 18 pericentric inversion 10.0
37 major affective disorder 8 10.0
38 major affective disorder 9 10.0
39 scoliosis 10.0
40 bipolar disorder 10.0
41 movement disease 10.0
42 refractive error 10.0
43 complex chromosomal rearrangement 10.0
44 ige responsiveness, atopic 10.0
45 systemic lupus erythematosus 10.0
46 facioscapulohumeral muscular dystrophy 2 10.0
47 anus, imperforate 10.0
48 keratosis pilaris atrophicans 10.0
49 orofacial cleft 10.0
50 keratosis 10.0

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:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
6 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
7 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
8 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
9 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
10 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
11 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
12 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
13 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
14 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
15 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
16 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
17 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
18 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
19 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
20 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
21 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
22 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
23 enlarged thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100625
24 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
25 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
26 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
27 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
28 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
29 misalignment of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000692
30 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
31 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
32 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
33 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
34 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
35 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
36 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
37 generalized dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007325
38 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
39 hypertelorism 32 HP:0000316
40 clinodactyly 32 HP:0030084
41 high palate 32 HP:0000218
42 anteverted nares 32 HP:0000463
43 malformation of the heart and great vessels 59 Occasional (29-5%)
44 cryptorchidism 32 HP:0000028
45 dystonia 32 HP:0001332
46 decreased testicular size 32 HP:0008734
47 micropenis 32 HP:0000054
48 round face 32 HP:0000311
49 gonadal dysgenesis 32 HP:0000133
50 small for gestational age 32 HP:0001518

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Chromosome 18p Deletion Syndrome:

46
# 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

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

Genetic Tests for Chromosome 18p Deletion Syndrome

Anatomical Context for Chromosome 18p Deletion Syndrome

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

41
Testes, Heart, Skin, Eye, Ovary, Thyroid, Myeloid

Publications for Chromosome 18p Deletion Syndrome

Articles related to Chromosome 18p Deletion Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. 8
16691587 2006
2
Familial Del(18p) syndrome. 8
11170097 2001
3
Familial deletion of chromosome 18 (p11.2). 8
9037347 1996
4
18p- syndrome and hypopituitarism. 8
1404301 1992
5
Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. 8
6606374 1983
6
[Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18]. 8
825713 1976
7
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. 8
4705937 1973
8
FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA. 8
14334740 1965
9
[Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q]. 38
31030439 2019
10
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports. 38
30946338 2019
11
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. 38
30244536 2018
12
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. 38
29563141 2018
13
Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report. 38
28513240 2017
14
A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis. 38
24797099 2014
15
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome. 38
24801913 2014
16
Clinical outcome: a monosomy 18p is better than a tetrasomy 18p. 38
25634515 2014
17
Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects. 38
24091065 2014
18
Alopecia totalis in monosomy 18p. 38
24413381 2013
19
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. 38
23850725 2013
20
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome. 38
27625852 2013
21
A Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA. 38
24265591 2013
22
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. 38
22302461 2012
23
Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester. 38
23705090 2011
24
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. 38
21791305 2011
25
Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus. 38
21383556 2011
26
A rare case of monosomy 18p: translocation between chromosomes 18 and 21. 38
21848017 2011
27
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. 38
20635794 2010
28
A case of monosomy 18p diagnosed on the basis of an isolated finding of increased nuchal fold thickness. 38
19697209 2009
29
Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases. 38
19643791 2009
30
Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype. 38
19226522 2009
31
Prenatal diagnosis of monosomy 18p involving a jumping translocation. 38
18561286 2008
32
Monosomy 18p. 38
18284672 2008
33
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. 38
17786116 2007
34
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. 38
17024214 2007
35
Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q. 38
16957478 2006
36
An unusual case of monosomy 18p: minor malformations with speech delay. 38
16052867 2005
37
Partial trisomy 8q and partial monosomy 18p: a case report. 38
15581839 2004
38
Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis. 38
15057945 2004
39
Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype? 38
12838568 2003
40
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. 38
12514362 2003
41
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. 38
12150215 2002
42
Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. 38
11746025 2001
43
Further clinical delineation in trisomy 1q32 syndrome. 38
11755100 2001
44
Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders. 38
11454427 2001
45
Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. 38
11360273 2001
46
Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. 38
11298684 2001
47
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. 38
10797432 2000
48
Dental caries history in nine children with chromosome 18p deletion syndrome. 38
11203878 2000
49
Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. 38
9826899 1998
50
Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p. 38
9286456 1997

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 ZIC2 SIX3 SHH IRF1 DUX4 AGO2
2 anatomical structure development GO:0048856 9.32 SIX3 SHH
3 epithelial tube branching involved in lung morphogenesis GO:0060441 9.16 SHH LAMA1
4 branching involved in salivary gland morphogenesis GO:0060445 8.96 SHH LAMA1
5 telencephalon regionalization GO:0021978 8.62 SIX3 SHH

Sources for Chromosome 18p Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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