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 54

Classifications:



Summaries for Trisomy 3 Mosaicism

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100071Disease definitionMosaic 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:

# Related Disease Score Top Affiliating Genes
1 mosaic trisomy 3 11.8
2 chromosomal triplication 10.2
3 cyclic vomiting syndrome 9.9
4 bartter disease 9.9

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:

42
Eye

Publications for Trisomy 3 Mosaicism

Articles related to Trisomy 3 Mosaicism:

# Title Authors Year
1
Prenatal diagnosis of low-level trisomy 3 mosaicism. ( 28254212 )
2017
2
Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case. ( 27004455 )
2016
3
A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype. ( 27717910 )
2016
4
Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR. ( 20578259 )
2010
5
Prenatal diagnosis of trisomy 3 mosaicism. ( 15386452 )
2004
6
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling. ( 8835326 )
1995
7
Seven cases of trisomy 3 mosaicism in chorionic villi. ( 2594698 )
1989
8
Trisomy 3 mosaicism in a patient with Bartter syndrome. ( 3385747 )
1988
9
Trisomy 3 mosaicism in a live-born infant. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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