MCID: 18P001
MIFTS: 14

18p Deletion Syndrome

Aliases & Classifications for 18p Deletion Syndrome

MalaCards integrated aliases for 18p Deletion Syndrome:

Name: 18p Deletion Syndrome 75
Chromosome 18p Deletion Syndrome 72

External Ids:

UMLS 72 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 alacrima, achalasia, and mental retardation syndrome. 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 : 75 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

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:

41
Brain, Pituitary

Publications for 18p Deletion Syndrome

Articles related to 18p Deletion Syndrome:

(show all 30)
# Title Authors PMID Year
1
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports. 38
30946338 2019
2
A case of de novo 18p deletion syndrome with panhypopituitarism. 38
30943682 2019
3
Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. 38
30536814 2019
4
Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome. 38
30949560 2019
5
Spectrum of Movement Disorders in 18p Deletion Syndrome. 38
30746419 2019
6
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. 38
30055030 2018
7
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. 38
30122583 2018
8
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. 38
29563141 2018
9
Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome. 38
29544220 2018
10
18p Deletion Syndrome: Case Report with Clinical Consideration and Management. 38
29326517 2017
11
Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature. 38
28137337 2017
12
Mirror Syndrome Associated with 18p Deletion Syndrome. 38
29999295 2017
13
Alternative surgical methods for ptosis in patients with 18p deletion syndrome. 38
28356775 2017
14
A case of 18p deletion syndrome after blepharoplasty. 38
28138267 2017
15
Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion. 38
27843654 2016
16
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. 38
25820463 2015
17
Neuropsychological function in a child with 18p deletion syndrome: a case report. 38
25237747 2014
18
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. 38
23850725 2013
19
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. 38
21389850 2011
20
Myoclonus-dystonia in 18p deletion syndrome. 38
21462265 2011
21
Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy. 38
20565246 2010
22
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits. 38
20388564 2010
23
Specific polysaccharide antibody deficiency in chromosome 18p deletion syndrome and immunoglobulin A deficiency. 38
20635794 2010
24
Characteristics of dystonia in the 18p deletion syndrome, including a new case. 38
19699028 2009
25
[Almost asymptomatic 18p deletion syndrome]. 38
19656746 2009
26
Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome. 38
18581602 2008
27
Chromosome 18 aberrations and epilepsy: a review. 38
15690352 2005
28
18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype. 38
11755103 2001
29
Dental caries history in nine children with chromosome 18p deletion syndrome. 38
11203878 2000
30
Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. 38
10073426 1999

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 EFO
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19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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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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