MCID: TTR027
MIFTS: 25

Tetrasomy 15q26

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

Aliases & Classifications for Tetrasomy 15q26

MalaCards integrated aliases for Tetrasomy 15q26:

Name: Tetrasomy 15q26 58 60 74
Levy-Shanske Syndrome 58 13
15q Overgrowth Syndrome 60
Distal Tetrasomy 15q 60
Tetrasomy 15 60

Characteristics:

Orphanet epidemiological data:

60
distal tetrasomy 15q
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
15q overgrowth syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Tetrasomy 15q26

MalaCards based summary : Tetrasomy 15q26, also known as levy-shanske syndrome, is related to isodicentric chromosome 15 syndrome and chromosome 15q11-q13 duplication syndrome. An important gene associated with Tetrasomy 15q26 is LVSKS (Levy-Shanske Syndrome). Affiliated tissues include brain, kidney and eye, and related phenotypes are hypertelorism and coarse facial features

Description from OMIM: 614846

Related Diseases for Tetrasomy 15q26

Diseases related to Tetrasomy 15q26 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isodicentric chromosome 15 syndrome 11.6
2 chromosome 15q11-q13 duplication syndrome 11.4
3 shprintzen-goldberg craniosynostosis syndrome 10.2
4 galactosialidosis 10.2
5 acute leukemia 10.1
6 leukemia 10.1

Graphical network of the top 20 diseases related to Tetrasomy 15q26:



Diseases related to Tetrasomy 15q26

Symptoms & Phenotypes for Tetrasomy 15q26

Human phenotypes related to Tetrasomy 15q26:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
3 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
4 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
5 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
6 horseshoe kidney 60 33 hallmark (90%) Very frequent (99-80%) HP:0000085
7 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
8 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
9 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
10 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
11 disproportionate tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001519
12 joint hypermobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001382
13 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
14 craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001363
15 microretrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000308
16 hydronephrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000126
17 overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001548
18 congenital stationary night blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007642
19 contracture of the proximal interphalangeal joint of the 2nd finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009540
20 ureterovesical stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008714
21 contracture of the proximal interphalangeal joint of the 3rd finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009471
22 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
23 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
24 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
25 brain atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012444
26 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
27 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
28 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
29 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
30 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
31 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
32 smooth philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000319
33 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
34 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
35 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
36 wide intermamillary distance 60 33 occasional (7.5%) Occasional (29-5%) HP:0006610
37 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
38 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
39 dental crowding 60 33 occasional (7.5%) Occasional (29-5%) HP:0000678
40 turricephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000262
41 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
42 large hands 60 33 occasional (7.5%) Occasional (29-5%) HP:0001176
43 abnormality of the sternum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000766
44 dandy-walker malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001305
45 nephroblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002667
46 bifid uvula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000193
47 breech presentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001623
48 abnormality of cardiovascular system morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0030680
49 tricuspid regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005180
50 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396

Clinical features from OMIM:

614846

Drugs & Therapeutics for Tetrasomy 15q26

Search Clinical Trials , NIH Clinical Center for Tetrasomy 15q26

Genetic Tests for Tetrasomy 15q26

Anatomical Context for Tetrasomy 15q26

MalaCards organs/tissues related to Tetrasomy 15q26:

42
Brain, Kidney, Eye

Publications for Tetrasomy 15q26

Articles related to Tetrasomy 15q26:

# Title Authors Year
1
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? ( 22653535 )
2012

Variations for Tetrasomy 15q26

Expression for Tetrasomy 15q26

Search GEO for disease gene expression data for Tetrasomy 15q26.

Pathways for Tetrasomy 15q26

GO Terms for Tetrasomy 15q26

Sources for Tetrasomy 15q26

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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