MCID: 18P001
MIFTS: 11

18p Deletion Syndrome

Aliases & Classifications for 18p Deletion Syndrome

MalaCards integrated aliases for 18p Deletion Syndrome:

Name: 18p Deletion Syndrome 76
Chromosome 18p Deletion Syndrome 73

Summaries for 18p Deletion Syndrome

MalaCards based summary : 18p Deletion Syndrome, also known as chromosome 18p deletion syndrome, is related to chromosome 18p deletion syndrome and dystonia. An important gene associated with 18p Deletion Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1).

Wikipedia : 76 Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies... more...

Related Diseases for 18p Deletion Syndrome

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 chromosome 18p deletion syndrome 32.0 DEL18P SMCHD1
2 dystonia 9.9
3 immunoglobulin a deficiency 1 9.8
4 facioscapulohumeral muscular dystrophy 1 9.8
5 patent ductus arteriosus 1 9.8
6 holoprosencephaly 9.8
7 ptosis 9.8
8 dental caries 9.8
9 movement disease 9.8
10 pulmonary valve stenosis 9.8
11 muscular dystrophy 9.8
12 myoclonus 9.8

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



Diseases related to 18p Deletion Syndrome

Symptoms & Phenotypes for 18p Deletion Syndrome

Drugs & Therapeutics for 18p Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 18p Deletion Syndrome

Genetic Tests for 18p Deletion Syndrome

Anatomical Context for 18p Deletion Syndrome

Publications for 18p Deletion Syndrome

Articles related to 18p Deletion Syndrome:

(show all 15)
# Title Authors Year
1
Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome. ( 29544220 )
2018
2
A case of 18p deletion syndrome after blepharoplasty. ( 28138267 )
2017
3
18p Deletion Syndrome: Case Report with Clinical Consideration and Management. ( 29326517 )
2017
4
Alternative surgical methods for ptosis in patients with 18p deletion syndrome. ( 28356775 )
2017
5
Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature. ( 28137337 )
2017
6
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. ( 25820463 )
2015
7
Neuropsychological function in a child with 18p deletion syndrome: a case report. ( 25237747 )
2014
8
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23850725 )
2013
9
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. ( 21389850 )
2011
10
Myoclonus-dystonia in 18p deletion syndrome. ( 21462265 )
2011
11
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
12
Characteristics of dystonia in the 18p deletion syndrome, including a new case. ( 19699028 )
2009
13
Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. ( 18581602 )
2008
14
18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype. ( 11755103 )
2001
15
Dental caries history in nine children with chromosome 18p deletion syndrome. ( 11203878 )
2000

Variations for 18p Deletion Syndrome

Expression for 18p Deletion Syndrome

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

Pathways for 18p Deletion Syndrome

GO Terms for 18p Deletion Syndrome

Sources for 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
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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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