MCID: CHR198
MIFTS: 12

Chromosome 15q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 15q Deletion

MalaCards integrated aliases for Chromosome 15q Deletion:

Name: Chromosome 15q Deletion 54
Partial Monosomy 15q 54
15q Deletion 54
15q Monosomy 54
Deletion 15q 54
Monosomy 15q 54

Classifications:



Summaries for Chromosome 15q Deletion

NIH Rare Diseases : 54 Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 15q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 15q Deletion, also known as partial monosomy 15q, is related to chromosome 15q26-qter deletion syndrome and insulin-like growth factor i. Affiliated tissues include heart.

Related Diseases for Chromosome 15q Deletion

Diseases related to Chromosome 15q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 chromosome 15q26-qter deletion syndrome 11.5
2 insulin-like growth factor i 11.4
3 glaucoma 3, primary congenital, a 10.1
4 hydrocephalus 10.1
5 chromosomal triplication 10.1
6 chromosome 7q duplication 10.1
7 congenital hydrocephalus 10.1
8 angelman syndrome 10.0
9 prader-willi syndrome 10.0
10 epilepsy 10.0
11 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Chromosome 15q Deletion:



Diseases related to Chromosome 15q Deletion

Symptoms & Phenotypes for Chromosome 15q Deletion

Drugs & Therapeutics for Chromosome 15q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 15q Deletion

Genetic Tests for Chromosome 15q Deletion

Anatomical Context for Chromosome 15q Deletion

MalaCards organs/tissues related to Chromosome 15q Deletion:

42
Heart

Publications for Chromosome 15q Deletion

Articles related to Chromosome 15q Deletion:

# Title Authors Year
1
Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. ( 9885021 )
1998
2
Epilepsy in Angelman syndrome associated with chromosome 15q deletion. ( 1464268 )
1992
3
Conference report: First International Scientific Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. May 2-3, 1991, DeLeeuwenhorst, The Netherlands. Abstracts. ( 1733174 )
1992
4
Partial monosomy 15q due to de novo t(15;22)(q15;p11). ( 3322163 )
1987

Variations for Chromosome 15q Deletion

Expression for Chromosome 15q Deletion

Search GEO for disease gene expression data for Chromosome 15q Deletion.

Pathways for Chromosome 15q Deletion

GO Terms for Chromosome 15q Deletion

Sources for Chromosome 15q 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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