MCID: CHR213
MIFTS: 13

Chromosome 18p Tetrasomy

Categories: Rare diseases

Aliases & Classifications for Chromosome 18p Tetrasomy

MalaCards integrated aliases for Chromosome 18p Tetrasomy:

Name: Chromosome 18p Tetrasomy 54
Chromosome 18, Tetrasomy 18p 74
Tetrasomy Chromosome 18p 54
Isochromosome 18p 54
Tetrasomy 18p 54

Classifications:



External Ids:

UMLS 74 C0795868

Summaries for Chromosome 18p Tetrasomy

NIH Rare Diseases : 54 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, bone and bone marrow.

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 12.9
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
6 aplastic anemia 10.1
7 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
8 leukemia 10.1
9 chromosomal triplication 10.1
10 acute myeloid leukemia with minimal differentiation 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:

42
Kidney, Bone, Bone Marrow, Myeloid

Publications for Chromosome 18p Tetrasomy

Articles related to Chromosome 18p Tetrasomy:

# Title Authors Year
1
Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? ( 21204237 )
2011
2
Development of minimally differentiated acute myeloblastic leukemia with novel isochromosome 18p and antecedent aplastic anemia. ( 8956860 )
1996
3
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 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
43 MedGen
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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