MCID: TRS013
MIFTS: 9

Trisomy 3 Mosaicism

Categories: Rare diseases

Aliases & Classifications for Trisomy 3 Mosaicism

MalaCards integrated aliases for Trisomy 3 Mosaicism:

Name: Trisomy 3 Mosaicism 53

Classifications:



Summaries for Trisomy 3 Mosaicism

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100071DefinitionMosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trisomy 3 Mosaicism is related to mosaic trisomy 3 and chromosomal triplication. Affiliated tissues include eye.

Related Diseases for Trisomy 3 Mosaicism

Diseases related to Trisomy 3 Mosaicism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 mosaic trisomy 3 11.9
2 chromosomal triplication 10.4
3 cleft palate, isolated 9.9
4 nondisjunction 9.9
5 pierre robin syndrome 9.9
6 oligohydramnios 9.9
7 neutropenia 9.9
8 diarrhea 9.9
9 thrombocytopenia 9.9
10 bartter disease 9.9
11 47,xyy 9.9
12 hypermobile ehlers-danlos syndrome 9.9
13 isolated pierre robin sequence 9.9

Graphical network of the top 20 diseases related to Trisomy 3 Mosaicism:



Diseases related to Trisomy 3 Mosaicism

Symptoms & Phenotypes for Trisomy 3 Mosaicism

Drugs & Therapeutics for Trisomy 3 Mosaicism

Search Clinical Trials , NIH Clinical Center for Trisomy 3 Mosaicism

Genetic Tests for Trisomy 3 Mosaicism

Anatomical Context for Trisomy 3 Mosaicism

MalaCards organs/tissues related to Trisomy 3 Mosaicism:

41
Eye

Publications for Trisomy 3 Mosaicism

Articles related to Trisomy 3 Mosaicism:

# Title Authors PMID Year
1
Prenatal diagnosis of low-level trisomy 3 mosaicism. 38
28254212 2017
2
A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype. 38
27717910 2016
3
Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case. 38
27004455 2016
4
Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR. 38
20578259 2010
5
Prenatal diagnosis of trisomy 3 mosaicism. 38
15386452 2004
6
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling. 38
8835326 1995
7
Seven cases of trisomy 3 mosaicism in chorionic villi. 38
2594698 1989
8
Trisomy 3 mosaicism in a patient with Bartter syndrome. 38
3385747 1988
9
Trisomy 3 mosaicism in a live-born infant. 38
7460379 1981

Variations for Trisomy 3 Mosaicism

Expression for Trisomy 3 Mosaicism

Search GEO for disease gene expression data for Trisomy 3 Mosaicism.

Pathways for Trisomy 3 Mosaicism

GO Terms for Trisomy 3 Mosaicism

Sources for Trisomy 3 Mosaicism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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