MCID: TTR021
MIFTS: 24

Tetrasomy 21

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 21

Summaries for Tetrasomy 21

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 96055Disease definitionTetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.Visit the Orphanet disease page for more resources.

MalaCards based summary : Tetrasomy 21, also known as isochromosome 21, is related to leukemia, acute myeloid and leukemia. An important gene associated with Tetrasomy 21 is ANPEP (Alanyl Aminopeptidase, Membrane), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Hematopoietic cell lineage. Affiliated tissues include skin, tongue and bone, and related phenotypes are hematopoietic system and immune system

Related Diseases for Tetrasomy 21

Graphical network of the top 20 diseases related to Tetrasomy 21:



Diseases related to Tetrasomy 21

Symptoms & Phenotypes for Tetrasomy 21

MGI Mouse Phenotypes related to Tetrasomy 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 ANPEP DNTT FCGR1A RUNX1
2 immune system MP:0005387 8.92 ANPEP DNTT FCGR1A RUNX1

Drugs & Therapeutics for Tetrasomy 21

Search Clinical Trials , NIH Clinical Center for Tetrasomy 21

Genetic Tests for Tetrasomy 21

Anatomical Context for Tetrasomy 21

MalaCards organs/tissues related to Tetrasomy 21:

41
Skin, Tongue, Bone, Myeloid, T Cells, Bone Marrow

Publications for Tetrasomy 21

Articles related to Tetrasomy 21:

(show all 22)
# Title Authors Year
1
Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India. ( 22176774 )
2012
2
Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. ( 18372039 )
2008
3
Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping. ( 18504381 )
2008
4
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. ( 15390279 )
2005
5
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. ( 15339695 )
2004
6
Extensive cytogenetic analysis of a stable dicentric isochromosome 21, idic(21), formed by fusion of the terminal long arms. ( 12438703 )
2002
7
Tetrasomy 21 as a sole chromosome abnormality in acute myeloid leukemia. fluorescence in situ hybridization and spectral karyotyping analyses. ( 11996798 )
2002
8
Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21. ( 11531976 )
2001
9
Tetrasomy 21 as the sole acquired karyotypic abnormality in acute myeloblastic leukemia. ( 11463456 )
2001
10
Partial tetrasomy 21 in a male infant. ( 11015462 )
2000
11
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements. ( 10227405 )
1999
12
Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder. ( 7668224 )
1995
13
Tetrasomy 21 as a sole abnormality in erythroleukemia. ( 8536246 )
1995
14
Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region. ( 7532356 )
1994
15
Tetrasomy 21 in megakaryoblastic leukemia. ( 8194051 )
1994
16
Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. ( 3987079 )
1985
17
Prenatal diagnosis of tetrasomy 21. ( 3161017 )
1985
18
Mosaic tetrasomy 21 in a male child. ( 6467667 )
1984
19
Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia. ( 6607706 )
1983
20
Mosaic tetrasomy 21 in a liveborn male infant. ( 6213323 )
1982
21
Mosaic tetrasomy 21 in severe mental handicap. ( 7173267 )
1982
22
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. ( 6211984 )
1982

Variations for Tetrasomy 21

Expression for Tetrasomy 21

Search GEO for disease gene expression data for Tetrasomy 21.

Pathways for Tetrasomy 21

Pathways related to Tetrasomy 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 FCGR1A RUNX1
2 10.79 ANPEP DNTT FCGR1A

GO Terms for Tetrasomy 21

Sources for Tetrasomy 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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