MCID: TTR027
MIFTS: 31

Tetrasomy 15q26

Categories: Eye diseases, Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Tetrasomy 15q26

MalaCards integrated aliases for Tetrasomy 15q26:

Name: Tetrasomy 15q26 57 58 71
Distal Tetrasomy 15q 58 5
15q Overgrowth Syndrome 58
Levy-Shanske Syndrome 57
Tetrasomy 15 58

Characteristics:


Prevelance:

Distal Tetrasomy 15q: <1/1000000 (Worldwide) 58
15q Overgrowth Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Distal Tetrasomy 15q: Infancy,Neonatal 58
15q Overgrowth Syndrome: Infancy,Neonatal 58

Classifications:

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


Summaries for Tetrasomy 15q26

Orphanet: 58 A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.

MalaCards based summary: Tetrasomy 15q26, also known as distal tetrasomy 15q, 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 testis, and related phenotypes are high palate and coarse facial features

More information from OMIM: 614846

Related Diseases for Tetrasomy 15q26

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 30 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000218
2 coarse facial features 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000280
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000316
5 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001999
6 neonatal hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001319
7 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001511
8 high, narrow palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002705
9 horseshoe kidney 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000085
10 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
11 arachnodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001166
12 disproportionate tall stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001519
13 joint hypermobility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001382
14 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
15 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
16 hydronephrosis 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000126
17 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000506
18 craniosynostosis 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001363
19 microretrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000308
20 overgrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001548
21 congenital stationary night blindness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007642
22 ureterovesical stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008714
23 contracture of the proximal interphalangeal joint of the 3rd finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009471
24 contracture of the proximal interphalangeal joint of the 2nd finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009540
25 retrognathia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000278
26 micrognathia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000347
27 low-set ears 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000369
28 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001328
29 large for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001520
30 birth length greater than 97th percentile 58 30 Frequent (33%) Frequent (79-30%)
HP:0003517
31 hypotonia 30 Frequent (33%) HP:0001252
32 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
33 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
34 hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001347
35 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002650
36 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
37 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000238
38 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
39 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
40 microtia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008551
41 smooth philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000319
42 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
43 hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100790
44 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000486
45 wide intermamillary distance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006610
46 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
47 corneal dystrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001131
48 mitral regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001653
49 dental crowding 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000678
50 dolichocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000268

Clinical features from OMIM®:

614846 (Updated 24-Oct-2022)

Drugs & Therapeutics for Tetrasomy 15q26

Search Clinical Trials, NIH Clinical Center for Tetrasomy 15q26

Genetic Tests for Tetrasomy 15q26

Anatomical Context for Tetrasomy 15q26

Organs/tissues related to Tetrasomy 15q26:

MalaCards : Eye, Kidney, Testis, Brain, Heart

Publications for Tetrasomy 15q26

Articles related to Tetrasomy 15q26:

(show all 14)
# Title Authors PMID Year
1
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? 62 57
22653535 2012
2
Acute leukemia in a patient with 15q overgrowth syndrome. 62
30861314 2019
3
Recognizable phenotypes associated with intracranial calcification. 62
23121296 2013
4
Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. 62
22711292 2012
5
Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3). 62
22030053 2011
6
A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences. 62
20603595 2010
7
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. 62
19133692 2009
8
Intrachromosomal triplication for the distal part of chromosome 15q. 62
15940678 2005
9
Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26. 62
15372521 2004
10
Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. 62
9534109 1998
11
A case of autism associated with partial tetrasomy 15. 62
7608033 1995
12
Autism associated with tetrasomy 15: A further report. 62
29871440 1993
13
Effects of zero to four copies of chromosome 15 on mouse embryonic development. 62
3356171 1988
14
[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?]. 62
6927358 1982

Variations for Tetrasomy 15q26

ClinVar genetic disease variations for Tetrasomy 15q26:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 44 genes COMPLEX Pathogenic
1703689 GRCh37: 15:22770421-32446830
GRCh38:
2 overlap with 420 genes GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) CN LOSS Uncertain Significance
1703688 GRCh37: 9:19356861-119513311
GRCh38:

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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