MCID: DST036
MIFTS: 19

Distal Trisomy 15q

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Distal Trisomy 15q

MalaCards integrated aliases for Distal Trisomy 15q:

Name: Distal Trisomy 15q 58
Chromosome 15, Distal Trisomy 15q 71
Telomeric Duplication 15q 58
Distal Duplication 15q 58
Trisomy 15qter 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Distal Trisomy 15q

MalaCards based summary : Distal Trisomy 15q, also known as chromosome 15, distal trisomy 15q, is related to diastrophic dysplasia and chromosomal triplication. Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and joint stiffness

Related Diseases for Distal Trisomy 15q

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

# Related Disease Score Top Affiliating Genes
1 diastrophic dysplasia 10.1
2 chromosomal triplication 10.1
3 chromosome 15q duplication 10.1
4 dwarfism 10.1
5 encephalopathy 10.1

Graphical network of the top 20 diseases related to Distal Trisomy 15q:



Diseases related to Distal Trisomy 15q

Symptoms & Phenotypes for Distal Trisomy 15q

Human phenotypes related to Distal Trisomy 15q:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
7 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
12 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
13 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
14 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
15 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
16 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
17 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
18 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
19 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
20 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
21 congenital muscular torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0005988
22 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
23 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
24 seizure 31 frequent (33%) HP:0001250
25 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
26 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
27 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
28 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
29 abnormality of periauricular region 58 31 occasional (7.5%) Occasional (29-5%) HP:0000383
30 seizures 58 Frequent (79-30%)
31 malformation of the heart and great vessels 58 Frequent (79-30%)

Drugs & Therapeutics for Distal Trisomy 15q

Search Clinical Trials , NIH Clinical Center for Distal Trisomy 15q

Genetic Tests for Distal Trisomy 15q

Anatomical Context for Distal Trisomy 15q

MalaCards organs/tissues related to Distal Trisomy 15q:

40
Eye, Heart

Publications for Distal Trisomy 15q

Articles related to Distal Trisomy 15q:

# Title Authors PMID Year
1
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. 61
26198585 2015
2
Trisomy 15q23----qter due to a de novo t(11;15)(q25;q23) and assignment of the critical segment. 61
3879157 1985
3
[Distal trisomy 15q]. 61
304707 1977

Variations for Distal Trisomy 15q

Expression for Distal Trisomy 15q

Search GEO for disease gene expression data for Distal Trisomy 15q.

Pathways for Distal Trisomy 15q

GO Terms for Distal Trisomy 15q

Sources for Distal Trisomy 15q

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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