MCID: 18P001
MIFTS: 13

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

External Ids:

UMLS 73 C0432442

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 facioscapulohumeral muscular dystrophy 1. 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 13)
# Related Disease Score Top Affiliating Genes
1 chromosome 18p deletion syndrome 33.3 DEL18P SMCHD1
2 facioscapulohumeral muscular dystrophy 1 10.1
3 dystonia 10.1
4 muscular dystrophy 10.1
5 immunoglobulin a deficiency 1 9.9
6 patent ductus arteriosus 1 9.9
7 holoprosencephaly 9.9
8 ptosis 9.9
9 dental caries 9.9
10 turner syndrome 9.9
11 movement disease 9.9
12 pulmonary valve stenosis 9.9
13 myoclonus 9.9

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 19)
# Title Authors Year
1
Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome. ( 29544220 )
2018
2
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. ( 30055030 )
2018
3
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. ( 30122583 )
2018
4
Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. ( 30536814 )
2018
5
A case of 18p deletion syndrome after blepharoplasty. ( 28138267 )
2017
6
18p Deletion Syndrome: Case Report with Clinical Consideration and Management. ( 29326517 )
2017
7
Alternative surgical methods for ptosis in patients with 18p deletion syndrome. ( 28356775 )
2017
8
Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature. ( 28137337 )
2017
9
Mirror Syndrome Associated with 18p Deletion Syndrome. ( 29999295 )
2017
10
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. ( 25820463 )
2015
11
Neuropsychological function in a child with 18p deletion syndrome: a case report. ( 25237747 )
2014
12
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23850725 )
2013
13
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. ( 21389850 )
2011
14
Myoclonus-dystonia in 18p deletion syndrome. ( 21462265 )
2011
15
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
16
Characteristics of dystonia in the 18p deletion syndrome, including a new case. ( 19699028 )
2009
17
Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. ( 18581602 )
2008
18
18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype. ( 11755103 )
2001
19
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
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10 dbSNP
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17 ExPASy
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28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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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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