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 56 58 71
Levy-Shanske Syndrome 56 13
15q Overgrowth Syndrome 58
Distal Tetrasomy 15q 58
Tetrasomy 15 58

Characteristics:

Orphanet epidemiological data:

58
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:

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


Summaries for Tetrasomy 15q26

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

More information from OMIM: 614846

Related Diseases for Tetrasomy 15q26

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.6
2 isodicentric chromosome 15 syndrome 11.6
3 inverted duplicated chromosome 15 syndrome 11.6
4 overgrowth syndrome 10.3
5 chromosomal triplication 10.3
6 shprintzen-goldberg craniosynostosis syndrome 10.2
7 alacrima, achalasia, and mental retardation syndrome 10.2
8 autism 10.1
9 renal hypodysplasia/aplasia 1 10.0
10 hydronephrosis 10.0
11 leukemia 10.0
12 acute leukemia 10.0
13 craniosynostosis 10.0
14 mixed phenotype acute leukemia 10.0
15 chromosome 15q duplication 10.0
16 horseshoe kidney 10.0
17 hypotonia 9.9

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:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
6 horseshoe kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0000085
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
8 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
9 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
10 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
11 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
12 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
13 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
14 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
15 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
16 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
17 overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001548
18 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
19 ureterovesical stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008714
20 contracture of the proximal interphalangeal joint of the 3rd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009471
21 contracture of the proximal interphalangeal joint of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009540
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
24 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
25 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
26 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
27 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
30 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
31 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
32 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
33 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
34 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
35 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
36 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
37 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
38 turricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000262
39 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
40 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
41 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
42 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
43 abnormality of the sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000766
44 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
45 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
46 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
47 mixed hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000410
48 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
49 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
50 abnormality of the falx cerebri 58 31 occasional (7.5%) Occasional (29-5%) HP:0010653

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:

40
Eye, Brain, Heart, Kidney

Publications for Tetrasomy 15q26

Articles related to Tetrasomy 15q26:

# Title Authors PMID Year
1
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? 56 61
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
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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