MCID: TTR027
MIFTS: 26

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 57 58 71
Levy-Shanske Syndrome 57 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, kidney and brain, and related phenotypes are high palate and coarse facial features

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 11.3
2 isodicentric chromosome 15 syndrome 11.3
3 inverted duplicated chromosome 15 syndrome 11.3
4 overgrowth syndrome 10.3
5 chromosomal triplication 10.3
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 shprintzen-goldberg craniosynostosis syndrome 10.1
8 autism 10.0
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 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000218
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000316
5 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001999
6 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001511
8 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
9 horseshoe kidney 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000085
10 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
11 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001166
12 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
13 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
14 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
15 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
16 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000126
17 telecanthus 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000506
18 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001363
19 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
20 overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001548
21 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
22 ureterovesical stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008714
23 contracture of the proximal interphalangeal joint of the 3rd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009471
24 contracture of the proximal interphalangeal joint of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009540
25 retrognathia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000278
26 micrognathia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000347
27 low-set ears 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000369
28 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
29 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
30 birth length greater than 97th percentile 58 31 frequent (33%) Frequent (79-30%) HP:0003517
31 hypotonia 31 frequent (33%) HP:0001252
32 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
33 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
34 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
35 scoliosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002650
36 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
37 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
38 abnormality of the helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0011039
39 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
40 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
41 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
42 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
43 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
44 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
45 strabismus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000486
46 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
47 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
48 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
49 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
50 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678

Clinical features from OMIM®:

614846 (Updated 05-Mar-2021)

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, Kidney, Brain, Heart, Testis

Publications for Tetrasomy 15q26

Articles related to Tetrasomy 15q26:

# Title Authors PMID Year
1
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? 57 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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