MCID: RNG017
MIFTS: 26

Ring Chromosome 21

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 21

MalaCards integrated aliases for Ring Chromosome 21:

Name: Ring Chromosome 21 53 59
Chromosome 21 Ring 53 29 73
Ring Chromosome 21 Syndrome 59 73
Ring 21 53 59
Chromosome 21 En Anneau 59
R21 53

Classifications:



External Ids:

Orphanet 59 ORPHA1445
MESH via Orphanet 45 C537109
UMLS via Orphanet 74 C0265487 C2931422
ICD10 via Orphanet 34 Q93.2

Summaries for Ring Chromosome 21

NIH Rare Diseases : 53 Ring chromosome 21  is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a chromosome abnormality. However, others with ring chromosome 21 have developmental and/or medical problems which can range from mild to severe. This is due to having extra or missing genetic material on the ring chromosome, which can happen when the ring chromosome forms. Signs and symptoms of ring chromosome 21 that may be present can include short stature, delayed puberty in males, small head size, seizures, learning disabilities, underdeveloped sex organs, susceptibility to infections, and/or a variety of birth defects. Some people have signs and symptoms similar to those that occur in people with Down syndrome. Ring chromosome 21 may be inherited from a parent (typically the mother), or it may occur sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality. Treatment for ring chromosome 21 depends on the signs and symptoms present in each person.

MalaCards based summary : Ring Chromosome 21, also known as chromosome 21 ring, is related to acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) and leukemia, acute lymphoblastic. An important gene associated with Ring Chromosome 21 is ETV6 (ETS Variant 6), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include testes and myeloid.

Related Diseases for Ring Chromosome 21

Diseases in the Ring Chromosome Y Syndrome family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9

Diseases related to Ring Chromosome 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 29.1 ETV6 KMT2A
2 leukemia, acute lymphoblastic 29.0 ETV6 KMT2A
3 leukemia, acute myeloid 28.6 ETV6 KMT2A
4 monosomy 21 10.0
5 leukemia 10.0
6 sacrococcygeal teratoma 9.9
7 teratoma 9.9
8 holoprosencephaly 9.9
9 lymphoblastic leukemia 9.7
10 azoospermia 9.7
11 infertility 9.7
12 dystonia 9.7
13 myeloid leukemia 9.7
14 optic nerve hypoplasia, bilateral 9.7
15 down syndrome 9.7
16 combined immunodeficiency, x-linked 9.7
17 alacrima, achalasia, and mental retardation syndrome 9.7
18 mn1 9.7 ETV6 KMT2A
19 lymphoid leukemia 9.7 ETV6 KMT2A
20 leukemia, acute lymphoblastic 3 9.6 ETV6 KMT2A
21 childhood leukemia 9.6 ETV6 KMT2A
22 precursor t-cell acute lymphoblastic leukemia 9.6 ETV6 KMT2A
23 acute leukemia 9.5 ETV6 KMT2A
24 leukemia, chronic myeloid 9.5 ETV6 KMT2A
25 hematologic cancer 9.4 ETV6 KMT2A
26 myelodysplastic syndrome 9.2 ETV6 KMT2A
27 trehalase deficiency 9.0 ETV6 KMT2A

Graphical network of the top 20 diseases related to Ring Chromosome 21:



Diseases related to Ring Chromosome 21

Symptoms & Phenotypes for Ring Chromosome 21

Drugs & Therapeutics for Ring Chromosome 21

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 21

Genetic Tests for Ring Chromosome 21

Genetic tests related to Ring Chromosome 21:

# Genetic test Affiliating Genes
1 Chromosome 21 Ring 29

Anatomical Context for Ring Chromosome 21

MalaCards organs/tissues related to Ring Chromosome 21:

41
Testes, Myeloid

Publications for Ring Chromosome 21

Articles related to Ring Chromosome 21:

(show all 45)
# Title Authors Year
1
Combined Immunodeficiency with Ring Chromosome 21. ( 29656336 )
2018
2
Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia. ( 24471893 )
2014
3
WITHDRAWN: Corrigendum to "Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review" [Gene 522 (2013) 111-116]. ( 24412089 )
2013
4
Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review. ( 23545316 )
2013
5
Ring chromosome 21 in the differential diagnosis of waddling gait. ( 22209335 )
2012
6
Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. ( 22482972 )
2012
7
Agminated lentiginosis in a patient with ring chromosome 21. ( 23178995 )
2012
8
Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. ( 22398511 )
2012
9
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. ( 21574245 )
2011
10
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report. ( 23074672 )
2011
11
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. ( 20509162 )
2010
12
An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation. ( 25385124 )
2010
13
Ring chromosome 21 and reproductive pattern: a familial case and review of the literature. ( 18371955 )
2008
14
Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling. ( 18970914 )
2008
15
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. ( 16155419 )
2005
16
Dilated ascending aorta in a child with ring chromosome 21 syndrome. ( 15372526 )
2004
17
Dystonia in a patient with ring chromosome 21. ( 14673898 )
2003
18
Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation. ( 12116206 )
2002
19
Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21. ( 11165321 )
2001
20
Hypogammaglobulinaemia in a patient with ring chromosome 21. ( 9370908 )
1997
21
Characterization of a ring chromosome 21 by FISH-technique. ( 8591669 )
1995
22
Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism. ( 7847798 )
1994
23
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. ( 8362906 )
1993
24
Stable ring chromosome 21: molecular and clinical definition of the lesion. ( 1308361 )
1992
25
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. ( 1346075 )
1992
26
Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. ( 2369070 )
1990
27
Maternal transmission of ring chromosome 21. ( 2253944 )
1990
28
Molecular mechanism in the formation of a human ring chromosome 21. ( 2648387 )
1989
29
Ring chromosome 21. ( 2741714 )
1989
30
A male infant with holoprosencephaly, associated with ring chromosome 21. ( 3568433 )
1987
31
Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45,XX,-21,-21,+t(21;21)(p11;q11). ( 3499841 )
1987
32
Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21. ( 3474055 )
1987
33
Familial transmission of a ring chromosome 21. ( 2887318 )
1987
34
Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier. ( 2960262 )
1987
35
Holoprosencephaly associated with ring chromosome 21. ( 3621668 )
1987
36
Ring chromosome 21 and SOD activity of blood cells. ( 3564968 )
1986
37
Ring chromosome 21 in healthy persons: different consequences in females and in males. ( 3733078 )
1986
38
Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion. ( 3160292 )
1985
39
Ring chromosome 21 in a phenotypically normal but infertile man. ( 4075565 )
1985
40
Ring chromosome 21. Observation in a female infant. ( 6335374 )
1984
41
Ring chromosome 21 in a normal female. ( 6331791 )
1984
42
Ring chromosome 21 in a healthy woman with three spontaneous abortions. ( 6745921 )
1984
43
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy. ( 6228144 )
1983
44
Analysis of banding patterns in a case of ring chromosome 21. ( 7332027 )
1981
45
Missing X chromosome and ring chromosome 21 in a case of acute myelomonocytic leukemia. ( 278545 )
1978

Variations for Ring Chromosome 21

Expression for Ring Chromosome 21

Search GEO for disease gene expression data for Ring Chromosome 21.

Pathways for Ring Chromosome 21

Pathways related to Ring Chromosome 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 ETV6 KMT2A

GO Terms for Ring Chromosome 21

Biological processes related to Ring Chromosome 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 8.62 ETV6 KMT2A

Sources for Ring Chromosome 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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