R8
MCID: RNG024
MIFTS: 23

Ring Chromosome 8 (R8)

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

Aliases & Classifications for Ring Chromosome 8

MalaCards integrated aliases for Ring Chromosome 8:

Name: Ring Chromosome 8 53 59
Chromosome 8 Ring 53 29 72
Ring 8 53 59
R8 53 17
Ring Chromosome 8 Syndrome 59
R(8) Syndrome 59

Classifications:



External Ids:

MESH via Orphanet 45 C537824
ICD10 via Orphanet 34 Q93.2
UMLS via Orphanet 73 C2931633
Orphanet 59 ORPHA1450
UMLS 72 C2931633

Summaries for Ring Chromosome 8

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1450DefinitionChromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 8, also known as chromosome 8 ring, is related to ring chromosome and hepatocellular carcinoma. Affiliated tissues include myeloid, and related phenotypes are frontal bossing and intellectual disability

Related Diseases for Ring Chromosome 8

Graphical network of the top 20 diseases related to Ring Chromosome 8:



Diseases related to Ring Chromosome 8

Symptoms & Phenotypes for Ring Chromosome 8

Human phenotypes related to Ring Chromosome 8:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
5 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
6 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
7 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
8 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
9 round ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0100830
10 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
11 abnormal palate morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000174
12 abnormality of the ureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000069
13 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
14 deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004097

Drugs & Therapeutics for Ring Chromosome 8

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 8

Genetic Tests for Ring Chromosome 8

Genetic tests related to Ring Chromosome 8:

# Genetic test Affiliating Genes
1 Chromosome 8 Ring 29

Anatomical Context for Ring Chromosome 8

MalaCards organs/tissues related to Ring Chromosome 8:

41
Myeloid

Publications for Ring Chromosome 8

Articles related to Ring Chromosome 8:

(show all 20)
# Title Authors PMID Year
1
"Lipoblastoma" has a nice ring to it. 38
29897891 2018
2
MYC Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2). 38
29393095 2017
3
Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism. 38
25365853 2014
4
Persisting ring chromosomes detected by mFISH in lymphocytes of a cancer patient-a case report. 38
23792211 2013
5
Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant. 38
24551990 2013
6
Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia. 38
23100969 2009
7
Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8. 38
18924172 2008
8
Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8. 38
17853456 2007
9
TRIB1 overexpression in acute myeloid leukemia. 38
17574965 2007
10
Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism. 38
16829350 2006
11
Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. 38
15378554 2004
12
Inherited ring chromosome 8 without loss of subtelomeric sequences. 38
15337475 2004
13
Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia. 38
12381450 2002
14
[Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype]. 38
11391511 2001
15
Ring chromosome 8 syndrome: further characterization. 38
10607957 2000
16
Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies. 38
7512788 1994
17
Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies. 38
1552550 1992
18
Ring chromosome 8 associated with microcephaly. 38
1746890 1991
19
Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. 38
604497 1977
20
[Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)]. 38
4795572 1973

Variations for Ring Chromosome 8

Expression for Ring Chromosome 8

Search GEO for disease gene expression data for Ring Chromosome 8.

Pathways for Ring Chromosome 8

GO Terms for Ring Chromosome 8

Sources for Ring Chromosome 8

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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