R1
MCID: RNG004
MIFTS: 30

Ring Chromosome 1 (R1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ring Chromosome 1

MalaCards integrated aliases for Ring Chromosome 1:

Name: Ring Chromosome 1 20 58 29
Ring Chromosome 1 Syndrome 58 70
Chromosome 1 Ring 20 70
Ring 1 20 58
R1 20 17
R(1) Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 1 syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C535361
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 71 C0265395 C1519099
Orphanet 58 ORPHA1437
UMLS 70 C0265395 C1519099

Summaries for Ring Chromosome 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1437 Definition Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

MalaCards based summary : Ring Chromosome 1, also known as ring chromosome 1 syndrome, is related to ring chromosome and leiomyoma, uterine. An important gene associated with Ring Chromosome 1 is TRIM62 (Tripartite Motif Containing 62), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and DNA Damage/Telomere Stress Induced Senescence. Related phenotypes are ptosis and wide nasal bridge

Related Diseases for Ring Chromosome 1

Graphical network of the top 20 diseases related to Ring Chromosome 1:



Diseases related to Ring Chromosome 1

Symptoms & Phenotypes for Ring Chromosome 1

Human phenotypes related to Ring Chromosome 1:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
9 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
12 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
13 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720

GenomeRNAi Phenotypes related to Ring Chromosome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-3 8.8 HMGA1
2 Increased Nanog expression GR00371-A-5 8.8 HMGA1 HMGA2

Drugs & Therapeutics for Ring Chromosome 1

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 1

Genetic Tests for Ring Chromosome 1

Genetic tests related to Ring Chromosome 1:

# Genetic test Affiliating Genes
1 Ring Chromosome 1 29

Anatomical Context for Ring Chromosome 1

Publications for Ring Chromosome 1

Articles related to Ring Chromosome 1:

(show all 18)
# Title Authors PMID Year
1
Association of DEAR1 Tagging Single Nucleotide Polymorphisms With Breast Cancer in a Sample of Colombian Population: A Case Control Study. 61
32341648 2020
2
Three gangliogliomas: results of GTG-banding, SKY, genome-wide high resolution SNP-array, gene expression and review of the literature. 61
25376146 2015
3
Generation of an artificial ring chromosome in Arabidopsis by Cre/LoxP-mediated recombination. 61
23360080 2013
4
Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. 61
21145991 2011
5
DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer. 61
19536326 2009
6
Prenatal diagnosis of supernumerary ring chromosome 1: case report and review of the literature. 61
17710876 2007
7
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia. 61
16914909 2006
8
Three new cases with a supernumerary ring chromosome 1. 61
16155417 2005
9
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay. 61
15633178 2005
10
M-FISH in gastric lymphoma. 61
15527904 2004
11
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. 61
12910498 2003
12
Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. 61
15004460 2003
13
FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataracts. 61
11746048 2001
14
Ring chromosome 1 in a newborn. 61
10826627 2000
15
Deletion of HMG17 in uterine leiomyomas with ring chromosome 1. 61
9973936 1999
16
Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. 61
7625449 1995
17
Parallel karyotypic evolution and tumor progression in uterine leiomyoma. 61
2268579 1990
18
Ring chromosome 1 associated with radial ray defect. 61
6502659 1984

Variations for Ring Chromosome 1

Expression for Ring Chromosome 1

Search GEO for disease gene expression data for Ring Chromosome 1.

Pathways for Ring Chromosome 1

Pathways related to Ring Chromosome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.36 HMGA2 HMGA1
2
Show member pathways
10.97 HMGA2 HMGA1

GO Terms for Ring Chromosome 1

Cellular components related to Ring Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 senescence-associated heterochromatin focus GO:0035985 8.62 HMGA2 HMGA1

Biological processes related to Ring Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.5 TRIM62 HMGA2 HMGA1
2 response to virus GO:0009615 9.37 HMGA2 HMGA1
3 base-excision repair GO:0006284 9.26 HMGA2 HMGA1
4 positive regulation of cellular senescence GO:2000774 9.16 HMGA2 HMGA1
5 oncogene-induced cell senescence GO:0090402 8.96 HMGA2 HMGA1
6 senescence-associated heterochromatin focus assembly GO:0035986 8.62 HMGA2 HMGA1

Molecular functions related to Ring Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.37 HMGA2 HMGA1
2 transcription coactivator activity GO:0003713 9.32 TRIM62 HMGA1
3 transcription coregulator activity GO:0003712 9.26 HMGA2 HMGA1
4 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.16 HMGA2 HMGA1
5 AT DNA binding GO:0003680 8.96 HMGA2 HMGA1
6 5'-deoxyribose-5-phosphate lyase activity GO:0051575 8.62 HMGA2 HMGA1

Sources for Ring Chromosome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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