MCID: CHR213
MIFTS: 10

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 73
Tetrasomy Chromosome 18p 53
Isochromosome 18p 53
Tetrasomy 18p 53

Classifications:



External Ids:

UMLS 73 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 nondisjunction. 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:

# Related Disease Score Top Affiliating Genes
1 tetrasomy 18p 12.8
2 nondisjunction 10.1
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 hypospadias 10.1
5 paraplegia 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 Year
1
Isochromosome 18p results from maternal meiosis II nondisjunction. ( 8840117 )
1996

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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