MCID: CHR181
MIFTS: 11

Chromosome 10p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 10p Deletion

MalaCards integrated aliases for Chromosome 10p Deletion:

Name: Chromosome 10p Deletion 54
Chromosome 10, Monosomy 10p 74
Partial Monosomy 10p 54
10p Deletion 54
10p Monosomy 54
Deletion 10p 54
Monosomy 10p 54

Classifications:



External Ids:

UMLS 74 C0795836

Summaries for Chromosome 10p Deletion

NIH Rare Diseases : 54 Chromosome 10p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of  chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include low birth weight, growth delay, developmental delay, low muscle tone (hypotonia), and communication difficulties. Birth defects, various medical problems, and/or distinctive facial features may also be present. Most 10p deletions are not inherited and occur randomly during the formation of egg or sperm cells, or very early in fetal development. Some 10p deletions are present because a parent has a rearrangement of genetic material on his/her chromosomes. This rearrangement is usually a balanced translocation, which typically does not cause any health problems. In some cases, a parent has the same deletion as the child. Chromosome testing of both parents can provide information about whether the deletion was inherited. Treatment for chromosome 10p deletion is based on the signs and symptoms in each person. This page is meant to provide general information about 10p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 10p. To learn more about chromosome abnormalities, please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 10p Deletion, also known as chromosome 10, monosomy 10p, is related to digeorge syndrome/velocardiofacial syndrome complex 2 and chromosomal triplication. Affiliated tissues include testes.

Related Diseases for Chromosome 10p Deletion

Diseases related to Chromosome 10p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 digeorge syndrome/velocardiofacial syndrome complex 2 11.3
2 chromosomal triplication 10.3
3 digeorge syndrome 10.1
4 choanal atresia, posterior 10.1
5 chromosome 10p duplication 10.1
6 chromosome 11q duplication 10.1
7 autism 10.0
8 hypoparathyroidism 10.0

Graphical network of the top 20 diseases related to Chromosome 10p Deletion:



Diseases related to Chromosome 10p Deletion

Symptoms & Phenotypes for Chromosome 10p Deletion

Drugs & Therapeutics for Chromosome 10p Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 10p Deletion

Genetic Tests for Chromosome 10p Deletion

Anatomical Context for Chromosome 10p Deletion

MalaCards organs/tissues related to Chromosome 10p Deletion:

42
Testes

Publications for Chromosome 10p Deletion

Articles related to Chromosome 10p Deletion:

# Title Authors Year
1
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. ( 15337474 )
2004

Variations for Chromosome 10p Deletion

Expression for Chromosome 10p Deletion

Search GEO for disease gene expression data for Chromosome 10p Deletion.

Pathways for Chromosome 10p Deletion

GO Terms for Chromosome 10p Deletion

Sources for Chromosome 10p Deletion

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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