MCID: CHR211
MIFTS: 43

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 57 12 13 44 15 73
De Grouchy Syndrome 12 76 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:



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 holoprosencephaly. 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, skin and heart, and related phenotypes are short neck and pectus excavatum

Wikipedia : 76 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 all 32)
# Related Disease Score Top Affiliating Genes
1 18p deletion syndrome 33.0 DEL18P SMCHD1
2 holoprosencephaly 29.1 NODAL SHH SIX3 ZIC2
3 tetrasomy 18p 11.2
4 distal chromosome 18q deletion syndrome 11.1
5 acquired schizencephaly 10.2 SHH SIX3
6 ichthyosis, congenital, autosomal recessive 1 10.2 APPL1 SULT2B1
7 holoprosencephaly 1 10.0 SHH SIX3
8 pleuropulmonary blastoma 10.0 MB SHH
9 patau syndrome 9.9 AGO2 NODAL SIX3 ZIC2
10 agnathia-otocephaly complex 9.9 NODAL SHH
11 immunoglobulin a deficiency 1 9.9
12 dental caries 9.9
13 chromosome 18p tetrasomy 9.8
14 acute contagious conjunctivitis 9.7 APPL1 PTER
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
16 azoospermia 9.7
17 gonadal dysgenesis 9.7
18 alopecia totalis 9.7
19 chromosome 18p duplication 9.7
20 septopreoptic holoprosencephaly 9.7 NODAL SHH SIX3 ZIC2
21 midline interhemispheric variant of holoprosencephaly 9.6 NODAL SHH SIX3 ZIC2
22 alobar holoprosencephaly 9.6 NODAL SHH SIX3 ZIC2
23 lobar holoprosencephaly 9.6 NODAL SHH SIX3 ZIC2
24 microform holoprosencephaly 9.6 NODAL SHH SIX3 ZIC2
25 semilobar holoprosencephaly 9.6 NODAL SHH SIX3 ZIC2
26 holoprosencephaly 4 9.6 PTER SHH ZIC2
27 schizencephaly 9.6 SHH SIX3
28 orofacial cleft 9.5 NODAL PTER SHH
29 facioscapulohumeral muscular dystrophy 1 9.2 DUX4 DUX4L5 SMCHD1
30 muscle tissue disease 9.0 DUX4 DUX4L5 MB
31 congenital nervous system abnormality 8.9 NODAL PTER SHH SIX3 ZIC2
32 physical disorder 8.9 NODAL PTER SHH SIX3 ZIC2

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:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
high palate
micrognathia

GenitourinaryInternal GenitaliaMale:
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

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 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
9 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
12 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
13 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
14 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
15 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
17 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
18 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
19 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
20 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
21 enlarged thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100625
22 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
23 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
24 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
25 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
26 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
27 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
28 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
29 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
30 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
31 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
32 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
33 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
34 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
35 generalized dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007325
36 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
37 misalignment of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000692
38 hypertelorism 32 HP:0000316
39 clinodactyly 32 HP:0030084
40 high palate 32 HP:0000218
41 anteverted nares 32 HP:0000463
42 malformation of the heart and great vessels 59 Occasional (29-5%)
43 cryptorchidism 32 HP:0000028
44 dystonia 32 HP:0001332
45 decreased testicular size 32 HP:0008734
46 round face 32 HP:0000311
47 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
48 micropenis 32 HP:0000054
49 gonadal dysgenesis 32 HP:0000133
50 radial deviation of finger 32 HP:0009466

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.98 AGO2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.98 NODAL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.98 AGO2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.98 NODAL GNAL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.98 AGO2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.98 GNAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.98 DUX4L5 DUX4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.98 AGO2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.98 NODAL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.98 AGO2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.98 AGO2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.98 AGO2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.98 NODAL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 DUX4L5 NODAL DUX4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.98 GNAL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 DUX4L5 PTER DUX4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.98 DUX4 DUX4L5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.98 NODAL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.98 DUX4L5 DUX4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.98 DUX4L5 NODAL DUX4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.98 DUX4 DUX4L5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.98 GNAL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.98 AGO2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.98 PTER
25 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.98 PTER
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.98 PTER
27 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.98 GNAL
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.98 PTER
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.98 PTER AGO2 GNAL
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.98 DUX4L5 PTER DUX4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 AGO2

MGI Mouse Phenotypes related to Chromosome 18p Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 ZIC2 AGO2 MB NODAL SHH SIX3
2 mortality/aging MP:0010768 9.61 AGO2 APPL1 GNAL MB NODAL SHH
3 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:

41
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

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 AGO2 DUX4 NODAL SHH SIX3
2 brain development GO:0007420 9.63 NODAL SIX3 ZIC2
3 heart development GO:0007507 9.61 MB NODAL SHH
4 embryonic pattern specification GO:0009880 9.37 NODAL SHH
5 vasculature development GO:0001944 9.32 NODAL SHH
6 anatomical structure formation involved in morphogenesis GO:0048646 9.26 NODAL SHH
7 digestive tract morphogenesis GO:0048546 9.16 NODAL SHH
8 telencephalon regionalization GO:0021978 8.96 SHH SIX3
9 formation of anatomical boundary GO:0048859 8.62 NODAL SHH

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

# 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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