MCID: CHR213
MIFTS: 8

Chromosome 18p Tetrasomy

Categories: Rare diseases

Aliases & Classifications for Chromosome 18p Tetrasomy

MalaCards integrated aliases for Chromosome 18p Tetrasomy:

Name: Chromosome 18p Tetrasomy 50
Chromosome 18, Tetrasomy 18p 69
Tetrasomy Chromosome 18p 50
Isochromosome 18p 50
Tetrasomy 18p 50

Classifications:



Summaries for Chromosome 18p Tetrasomy

NIH Rare Diseases : 50 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. last updated: 7/25/2016

MalaCards based summary : Chromosome 18p Tetrasomy, also known as chromosome 18, tetrasomy 18p, is related to tetrasomy 18p and paraplegia. 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:

id Related Disease Score Top Affiliating Genes
1 tetrasomy 18p 12.5
2 paraplegia 9.9
3 spasticity 9.9

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:

39
Kidney

Publications for Chromosome 18p Tetrasomy

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
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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48 NDF-RT
51 NINDS
52 Novoseek
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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