Tetrasomy 15q26 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Sources

Related Diseases for Tetrasomy 15q26

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

(show all 19)

#	Related Disease	Score
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	chromosome 15q duplication	10.2
8	shprintzen-goldberg craniosynostosis syndrome	10.1
9	galactosialidosis	10.1
10	autism	10.0
11	renal hypodysplasia/aplasia 1	10.0
12	chromosomal disease	10.0
13	hydronephrosis	10.0
14	leukemia	10.0
15	acute leukemia	10.0
16	craniosynostosis	10.0
17	acute biphenotypic leukemia	10.0
18	partial duplication of the long arm of chromosome 15	10.0
19	hypotonia	9.9

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

Sources

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)

Sources

Drugs & Therapeutics for Tetrasomy 15q26

Search Clinical Trials, NIH Clinical Center for Tetrasomy 15q26

Sources

Genetic Tests for Tetrasomy 15q26

Sources

Anatomical Context for Tetrasomy 15q26

Organs/tissues related to Tetrasomy 15q26:

MalaCards : Eye, Kidney, Testis, Brain, Heart

Sources

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	Levy B...Shanske A	22653535	2012
2	Acute leukemia in a patient with 15q overgrowth syndrome. ⁶²	Bodle EE...Manning MA	30861314	2019
3	Recognizable phenotypes associated with intracranial calcification. ⁶²	Livingston JH...Crow YJ	23121296	2013
4	Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. ⁶²	George-Abraham JK...Hopkin RJ	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	Chen CP...Wang W	22030053	2011
6	A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences. ⁶²	Gutierrez-Franco Mde L...Rivera H	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	Tatton-Brown K...McEntagart M	19133692	2009
8	Intrachromosomal triplication for the distal part of chromosome 15q. ⁶²	Schluth C...Jeandidier E	15940678	2005
9	Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26. ⁶²	James PA...Oei P	15372521	2004
10	Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. ⁶²	Weidmer-Mikhail E...Ghaziuddin M	9534109	1998
11	A case of autism associated with partial tetrasomy 15. ⁶²	Hotopf M...Bolton P	7608033	1995
12	Autism associated with tetrasomy 15: A further report. ⁶²	Ghaziuddin M...Ghaziuddin N	29871440	1993
13	Effects of zero to four copies of chromosome 15 on mouse embryonic development. ⁶²	Beechey CV...Searle AG	3356171	1988
14	[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?]. ⁶²	Rinaldi MM...Ventruto V	6927358	1982

Sources

Genes for Tetrasomy 15q26

Genes related to Tetrasomy 15q26 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LVSKS	Levy-Shanske Syndrome	Genetic Locus	500	Structural variation ⁵⁷

Sources

Variations for Tetrasomy 15q26

ClinVar genetic disease variations for Tetrasomy 15q26:

IMPROVED

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:

Sources

Expression for Tetrasomy 15q26

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

Sources

Pathways for Tetrasomy 15q26

Sources

GO Terms for Tetrasomy 15q26

Sources

Sources for Tetrasomy 15q26

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: TTR027 MIFTS: 31	Tetrasomy 15q26 Categories: Eye diseases, Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables