MCID: TRS029
MIFTS: 27

Trisomy 1q

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Trisomy 1q

Summaries for Trisomy 1q

MalaCards based summary : Trisomy 1q, also known as duplication 1q, is related to 1q duplications and myelodysplastic syndrome. An important gene associated with Trisomy 1q is LRSL (Larsen-Like Syndrome). Affiliated tissues include kidney, myeloid and lung, and related phenotypes are multicystic kidney dysplasia and cryptorchidism

Related Diseases for Trisomy 1q

Diseases in the Trisomy 1q family:

Trisomy 18-Like Syndrome Trisomy 22

Diseases related to Trisomy 1q via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 1q duplications 11.6
2 myelodysplastic syndrome 10.1
3 leukemia 10.0
4 larsen syndrome 9.8
5 fetal edema 9.8
6 down syndrome 9.8
7 hydrops fetalis 9.8
8 myelofibrosis 9.8
9 tremor 9.8
10 myeloma, multiple 9.8
11 leukemia, acute myeloid 9.8
12 aplastic anemia 9.8
13 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
14 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
15 megakaryocytic leukemia 9.8
16 sacrococcygeal teratoma 9.8
17 omphalocele 9.8
18 teratoma 9.8
19 myeloid leukemia 9.8

Graphical network of the top 20 diseases related to Trisomy 1q:



Diseases related to Trisomy 1q

Symptoms & Phenotypes for Trisomy 1q

Human phenotypes related to Trisomy 1q:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
2 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
4 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
5 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
6 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
7 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
8 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
9 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
10 microretrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000308
11 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
12 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
13 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
14 cystic hygroma 59 32 frequent (33%) Frequent (79-30%) HP:0000476
15 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
16 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
17 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
18 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
19 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
20 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
21 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
22 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
23 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
24 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
25 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
26 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
27 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
28 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
29 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
30 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
31 long foot 59 32 frequent (33%) Frequent (79-30%) HP:0001833
32 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
33 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
34 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
35 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
36 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
37 congenital megaureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0008676
38 short thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010306
39 increased nuchal translucency 59 32 frequent (33%) Frequent (79-30%) HP:0010880
40 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
41 abnormality of the outer ear 59 Occasional (29-5%)
42 aplasia/hypoplasia of the nails 59 Occasional (29-5%)

Drugs & Therapeutics for Trisomy 1q

Search Clinical Trials , NIH Clinical Center for Trisomy 1q

Genetic Tests for Trisomy 1q

Anatomical Context for Trisomy 1q

MalaCards organs/tissues related to Trisomy 1q:

41
Kidney, Myeloid, Lung

Publications for Trisomy 1q

Articles related to Trisomy 1q:

(show all 27)
# Title Authors Year
1
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. ( 28437579 )
2017
2
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature. ( 24677675 )
2014
3
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. ( 23431743 )
2012
4
The distal partial trisomy 1q syndrome and dystonic tremor. ( 21044857 )
2011
5
Mosaic trisomy 1q: The longest surviving case. ( 19610079 )
2009
6
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22. ( 19161140 )
2009
7
Prenatal diagnosis of mosaic complete trisomy 1q. ( 19610082 )
2009
8
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia. ( 19228396 )
2009
9
Prenatal sonographic features of trisomy 1q. ( 17661383 )
2008
10
Pattern of trisomy 1q in hematological malignancies: a single institution experience. ( 18786437 )
2008
11
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. ( 18798309 )
2008
12
Distal partial trisomy 1q: report of two cases and a review of the literature. ( 17605151 )
2007
13
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. ( 17431907 )
2007
14
Trisomy 1q in a patient with severe aplastic anemia. ( 16875941 )
2006
15
Identification of 13q deletion, trisomy 1q, and IgH rearrangement as the most frequent chromosomal changes found in Korean patients with multiple myeloma. ( 16843102 )
2006
16
Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas. ( 16152651 )
2005
17
Therapy-related myelodysplastic syndrome with trisomy 1q due to der(1;7) and megakaryoblastic proliferation developing during complete remission of therapy-related acute myeloid leukemia with t(8;21). ( 15335185 )
2004
18
Constitutional t(5;7)(q11;p15) rearranged to acquire monosomy 7q and trisomy 1q in a patient with myelodysplastic syndrome transforming to acute myelocytic leukemia. ( 15036888 )
2004
19
Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. ( 12884423 )
2003
20
First case of trisomy 13 plus mosaic trisomy 1q. ( 11914563 )
2002
21
Predominance of trisomy 1q in myelodysplastic syndromes in Korea: is there an ethnic difference? A 3-year multi-center study. ( 11850068 )
2002
22
Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q. ( 10700874 )
2000
23
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. ( 9881182 )
1998
24
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. ( 1916762 )
1991
25
Partial trisomy 1q in idiopathic myelofibrosis. ( 2280601 )
1990
26
Combined trisomy 1q and monosomy 17p due to translocation t(1;17) in a patient with myelodysplastic syndrome. ( 3180004 )
1988
27
Omphalocele and partial trisomy 1q syndrome. ( 535894 )
1979

Variations for Trisomy 1q

Expression for Trisomy 1q

Search GEO for disease gene expression data for Trisomy 1q.

Pathways for Trisomy 1q

GO Terms for Trisomy 1q

Sources for Trisomy 1q

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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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