R9
MCID: RNG025
MIFTS: 20

Ring Chromosome 9 (R9)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 9

MalaCards integrated aliases for Ring Chromosome 9:

Name: Ring Chromosome 9 52 58
Chromosome 9 Ring 52 29 71
Ring Chromosome 9 Syndrome 58 71
Ring 9 52 58
R9 52

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 9 syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C538022
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C0265430 C2931693
Orphanet 58 ORPHA96173
UMLS 71 C0265430 C2931693

Summaries for Ring Chromosome 9

NIH Rare Diseases : 52 Ring chromosome 9 is a very rare chromosome abnormality in which the ends of chromosome 9 join together to form a ring shape. The resulting ring may be missing genes , or it may contain extra copies of genes. Therefore, the severity and symptoms associated with ring chromosome 9 vary from person to person. Signs and symptoms that may be present in a person with ring chromosome 9 include slow growth and short stature , learning disabilities, small head size, distinctive facial features, low muscle tone (hypotonia ), skeletal abnormalities, and/or other birth defects involving various parts of the body. However, people with ring chromosome 9 can be generally healthy and have no major birth defects. Ring chromosome 9 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, one of the parents has a chromosome abnormality involving chromosome 9. Chromosome testing of both parents can help determine whether the ring chromosome was inherited and whether future children have an increased chance to have a chromosome abnormality. Treatment for ring chromosome 9 depends on the signs and symptoms present in each person.

MalaCards based summary : Ring Chromosome 9, also known as chromosome 9 ring, is related to muscular dystrophy-dystroglycanopathy , type c, 5 and ring chromosome. Affiliated tissues include testes and eye.

Related Diseases for Ring Chromosome 9

Graphical network of the top 20 diseases related to Ring Chromosome 9:



Diseases related to Ring Chromosome 9

Symptoms & Phenotypes for Ring Chromosome 9

Drugs & Therapeutics for Ring Chromosome 9

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 9

Genetic Tests for Ring Chromosome 9

Genetic tests related to Ring Chromosome 9:

# Genetic test Affiliating Genes
1 Chromosome 9 Ring 29

Anatomical Context for Ring Chromosome 9

MalaCards organs/tissues related to Ring Chromosome 9:

40
Testes, Eye

Publications for Ring Chromosome 9

Articles related to Ring Chromosome 9:

(show all 29)
# Title Authors PMID Year
1
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. 61
31400141 2019
2
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)ׂÄČ2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. 61
29760778 2018
3
Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9. 61
28805612 2017
4
[Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9]. 61
26829739 2016
5
Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature. 61
27222354 2016
6
Azoospermia and ring chromosome 9--a case report. 61
25449292 2015
7
Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion. 61
25722017 2014
8
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. 61
23633410 2013
9
Ring chromosome 9 in a newborn. 61
24551976 2013
10
[Analysis of ring chromosome 9 syndrome with fluorescence in situ hybridization]. 61
20931537 2010
11
Ring chromosome 9 in a dysmorphic child. 61
17526969 2007
12
Prenatal diagnosis of mosaic ring chromosome 9. 61
16941502 2006
13
Ring chromosome 9 [r(9)(p24q34)]: a report of two cases. 61
16158426 2005
14
Ring chromosome 9 with a 9p22.3-p24.3 duplication. 61
10486077 1999
15
Phenotypic variability in the chromosome 9 ring. 61
10021722 1997
16
Ring chromosome 9: an atypical case. 61
8836504 1996
17
[Ring chromosome 9]. 61
8674446 1995
18
Congenital hypothyroidism: the Riyadh Military Hospital experience. 61
8435899 1993
19
Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities. 61
1781957 1991
20
Another case of ring chromosome 9 associated with gastroesophageal reflux. 61
2774007 1989
21
[Ring chromosome 9. Case report and review of the literature]. 61
3265311 1988
22
Apparent Prader-Willi phenotype in a woman with ring chromosome 9. 61
3130846 1987
23
[A new case of ring chromosome 9]. 61
6301043 1983
24
[A new case of ring chromosome 9]. 61
6982668 1982
25
Ring chromosome 9: identification of a new case by G- and C-banding. 61
6985015 1982
26
A ring chromosome 9 in an infant with malformations. 61
489005 1979
27
Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9. 61
468257 1979
28
Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia. 61
885556 1977
29
Mental retardation and congenital malformations associated with a ring chromosome 9. 61
939548 1976

Variations for Ring Chromosome 9

Expression for Ring Chromosome 9

Search GEO for disease gene expression data for Ring Chromosome 9.

Pathways for Ring Chromosome 9

GO Terms for Ring Chromosome 9

Sources for Ring Chromosome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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