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 57 59 73
Levy-Shanske Syndrome 57 13
15q Overgrowth Syndrome 59
Distal Tetrasomy 15q 59
Tetrasomy 15 59

Characteristics:

Orphanet epidemiological data:

59
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 shprintzen-goldberg craniosynostosis syndrome. An important gene associated with Tetrasomy 15q26 is LVSKS (Levy-Shanske Syndrome). Affiliated tissues include brain, kidney and heart, and related phenotypes are macrocephaly and malar flattening

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 11.7
2 shprintzen-goldberg craniosynostosis syndrome 10.2
3 galactosialidosis 10.2

Symptoms & Phenotypes for Tetrasomy 15q26

Clinical features from OMIM:

614846

Human phenotypes related to Tetrasomy 15q26:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
5 brain atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012444
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
9 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
10 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
11 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
12 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
13 smooth philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000319
14 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
15 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
16 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
17 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
18 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
19 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
20 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
21 horseshoe kidney 59 32 hallmark (90%) Very frequent (99-80%) HP:0000085
22 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
23 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
24 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
25 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
26 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
27 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
28 disproportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001519
29 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
30 joint hypermobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001382
31 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
32 turricephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000262
33 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
34 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
35 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
36 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
37 large hands 59 32 occasional (7.5%) Occasional (29-5%) HP:0001176
38 abnormality of the sternum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000766
39 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
40 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
41 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
42 breech presentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001623
43 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
44 congenital stationary night blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007642
45 tricuspid regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005180
46 overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001548
47 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
48 contracture of the proximal interphalangeal joint of the 2nd finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009540
49 abnormal finger flexion creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0006143
50 overlapping toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001845

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:

41
Brain, Kidney, Heart, 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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