MCID: CHR213
MIFTS: 11

Chromosome 18p Tetrasomy

Categories: Rare diseases

Aliases & Classifications for Chromosome 18p Tetrasomy

MalaCards integrated aliases for Chromosome 18p Tetrasomy:

Name: Chromosome 18p Tetrasomy 53
Chromosome 18, Tetrasomy 18p 72
Tetrasomy Chromosome 18p 53
Isochromosome 18p 53
Tetrasomy 18p 53

Classifications:



External Ids:

UMLS 72 C0795868

Summaries for Chromosome 18p Tetrasomy

NIH Rare Diseases : 53 Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. The symptoms of chromosomy 18p tetrasomy vary from case to case but may include abnormalities of the head and face (craniofacial) area, malformations of the spine, hands, and/or feet, neuromuscular abnormalities, kidney malformations, intellectual disability, speech delays, and behavioral abnormalities. In most cases, chromosome 18p tetrasomy is the result of a spontaneous (de novo) genetic change (mutation) early in fetal development during pregnancy. Although there is no specific treatment or cure for chromosome 18p tetrasomy, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Chromosome 18p Tetrasomy, also known as chromosome 18, tetrasomy 18p, is related to tetrasomy 18p and microcephaly. Affiliated tissues include kidney.

Related Diseases for Chromosome 18p Tetrasomy

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 tetrasomy 18p 13.1
2 microcephaly 10.6
3 47,xyy 10.5
4 chromosomal triplication 10.5
5 nondisjunction 10.4
6 strabismus 10.4
7 mechanical strabismus 10.4
8 hypotonia 10.3
9 otitis media 10.3
10 retinitis pigmentosa 11 10.3
11 myelomeningocele 10.3
12 hypospadias 10.3
13 chromosome 18q duplication 10.3
14 spasticity 10.3
15 acropectorovertebral dysplasia 10.1
16 gastroesophageal reflux 10.1
17 cleft palate, isolated 10.1
18 epicanthus 10.1
19 chromosome 18p deletion syndrome 10.1
20 hypospadias 3, autosomal 10.1
21 polydactyly, postaxial, type a1 10.1
22 down syndrome 10.1
23 anus, imperforate 10.1
24 cryptorchidism, unilateral or bilateral 10.1
25 polydactyly 10.1
26 bone mineral density quantitative trait locus 3 10.1
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
29 scoliosis 10.1
30 chromosomal disease 10.1
31 sensorineural hearing loss 10.1
32 monocular esotropia 10.1
33 meningocele 10.1
34 hydrocephalus 10.1
35 alternating exotropia 10.1
36 exotropia 10.1
37 heart septal defect 10.1
38 atrial heart septal defect 10.1
39 constipation 10.1
40 neonatal jaundice 10.1
41 paraplegia 10.1
42 polyhydramnios 10.1
43 refractive error 10.1
44 esotropia 10.1
45 polymicrogyria 10.1
46 acropectorovertebral dysplasia f form 10.1
47 chromosome 18p duplication 10.1
48 congenital hydrocephalus 10.1
49 rare chromosomal anomaly 10.1
50 aplastic anemia 10.1

Graphical network of the top 20 diseases related to Chromosome 18p Tetrasomy:



Diseases related to Chromosome 18p Tetrasomy

Symptoms & Phenotypes for Chromosome 18p Tetrasomy

Drugs & Therapeutics for Chromosome 18p Tetrasomy

Search Clinical Trials , NIH Clinical Center for Chromosome 18p Tetrasomy

Genetic Tests for Chromosome 18p Tetrasomy

Anatomical Context for Chromosome 18p Tetrasomy

MalaCards organs/tissues related to Chromosome 18p Tetrasomy:

41
Kidney

Publications for Chromosome 18p Tetrasomy

Articles related to Chromosome 18p Tetrasomy:

# Title Authors PMID Year
1
Psychiatric syndromes in individuals with chromosome 18 abnormalities. 38
19927307 2010

Variations for Chromosome 18p Tetrasomy

Expression for Chromosome 18p Tetrasomy

Search GEO for disease gene expression data for Chromosome 18p Tetrasomy.

Pathways for Chromosome 18p Tetrasomy

GO Terms for Chromosome 18p Tetrasomy

Sources for Chromosome 18p Tetrasomy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....