MCID: 18P001
MIFTS: 15

18p Deletion Syndrome

Aliases & Classifications for 18p Deletion Syndrome

MalaCards integrated aliases for 18p Deletion Syndrome:

Name: 18p Deletion Syndrome 77
Chromosome 18p Deletion Syndrome 74

External Ids:

UMLS 74 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 dystonia. An important gene associated with 18p Deletion Syndrome is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include brain and pituitary.

Wikipedia : 77 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 16)
# Related Disease Score Top Affiliating Genes
1 chromosome 18p deletion syndrome 33.1 DEL18P SMCHD1
2 dystonia 10.2
3 facioscapulohumeral muscular dystrophy 1 10.1
4 movement disease 10.1
5 muscular dystrophy 10.1
6 dystonia 12 9.9
7 immunoglobulin a deficiency 1 9.9
8 pituitary hormone deficiency, combined, 2 9.9
9 patent ductus arteriosus 1 9.9
10 holoprosencephaly 9.9
11 ptosis 9.9
12 dental caries 9.9
13 turner syndrome 9.9
14 pulmonary valve stenosis 9.9
15 chromosomal triplication 9.9
16 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

MalaCards organs/tissues related to 18p Deletion Syndrome:

42
Brain, Pituitary

Publications for 18p Deletion Syndrome

Articles related to 18p Deletion Syndrome:

(show all 23)
# Title Authors Year
1
Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. ( 30536814 )
2019
2
Spectrum of Movement Disorders in 18p Deletion Syndrome. ( 30746419 )
2019
3
A case of de novo 18p deletion syndrome with panhypopituitarism. ( 30943682 )
2019
4
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports. ( 30946338 )
2019
5
Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome. ( 30949560 )
2019
6
Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome. ( 29544220 )
2018
7
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. ( 30055030 )
2018
8
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
9
Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature. ( 28137337 )
2017
10
A case of 18p deletion syndrome after blepharoplasty. ( 28138267 )
2017
11
Alternative surgical methods for ptosis in patients with 18p deletion syndrome. ( 28356775 )
2017
12
18p Deletion Syndrome: Case Report with Clinical Consideration and Management. ( 29326517 )
2017
13
Mirror Syndrome Associated with 18p Deletion Syndrome. ( 29999295 )
2017
14
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. ( 25820463 )
2015
15
Neuropsychological function in a child with 18p deletion syndrome: a case report. ( 25237747 )
2014
16
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23850725 )
2013
17
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. ( 21389850 )
2011
18
Myoclonus-dystonia in 18p deletion syndrome. ( 21462265 )
2011
19
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. ( 20635794 )
2010
20
Characteristics of dystonia in the 18p deletion syndrome, including a new case. ( 19699028 )
2009
21
Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. ( 18581602 )
2008
22
18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype. ( 11755103 )
2001
23
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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