MCID: RNG004
MIFTS: 37

Ring Chromosome 1

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 1

MalaCards integrated aliases for Ring Chromosome 1:

Name: Ring Chromosome 1 53 59
Ring Chromosome 1 Syndrome 59 73
Chromosome 1 Ring 53 73
Ring 1 53 59
Chromosome 1, Ring 29
R(1) Syndrome 59
R1 53

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 1 syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1437
MESH via Orphanet 45 C535361
UMLS via Orphanet 74 C0265395 C1519099
ICD10 via Orphanet 34 Q93.2

Summaries for Ring Chromosome 1

MalaCards based summary : Ring Chromosome 1, also known as ring chromosome 1 syndrome, is related to endotheliitis and lung cancer. An important gene associated with Ring Chromosome 1 is HMGA1 (High Mobility Group AT-Hook 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and DNA Damage/Telomere Stress Induced Senescence. The drugs Dehydroepiandrosterone and Adjuvants, Immunologic have been mentioned in the context of this disorder. Related phenotypes are microcephaly and round face

Related Diseases for Ring Chromosome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 endotheliitis 10.0
2 lung cancer 9.9
3 adenocarcinoma 9.9
4 herpes simplex 9.9
5 gastric cancer 9.9
6 colorectal cancer 9.9
7 pancreatitis 9.9
8 neuronitis 9.9
9 pancreatic ductal adenocarcinoma 9.8
10 squamous cell carcinoma 9.8
11 colon adenocarcinoma 9.8
12 hepatitis 9.8
13 small cell cancer of the lung 9.8
14 leiomyoma 9.7
15 myelodysplastic syndrome 9.7
16 acute leukemia 9.7
17 leiomyoma, uterine 9.7
18 leukemia 9.7
19 neuroblastoma 9.6
20 loeys-dietz syndrome 9.6
21 pancreatic cancer 9.6
22 asthma 9.6
23 langerhans cell histiocytosis 9.6
24 hepatitis c 9.6
25 aortic aneurysm, familial thoracic 1 9.6
26 major depressive disorder 9.6
27 hepatitis c virus 9.6
28 mood disorder 9.6
29 apnea, obstructive sleep 9.6
30 histiocytosis 9.6
31 aortic aneurysm 9.6
32 hepatocellular carcinoma 9.6
33 membranous nephropathy 9.6
34 multiple sclerosis 9.6
35 cholangiocarcinoma 9.6
36 glioma susceptibility 1 9.6
37 hemophagocytic lymphohistiocytosis 9.6
38 marfan syndrome 9.6
39 glioblastoma 9.6
40 appendicitis 9.5
41 pelvic lipomatosis 9.4 HMGA1 HMGA2
42 malignant ectomesenchymoma 9.3 HMGA1 HMGA2
43 ectomesenchymoma 9.2 HMGA1 HMGA2
44 lipomatosis, multiple 9.0 HMGA1 HMGA2

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
4 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
7 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
9 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
10 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
11 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
12 abnormal hair pattern 59 32 hallmark (90%) Very frequent (99-80%) HP:0010720
13 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543

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

Drugs for Ring Chromosome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 1 53-43-0 9860744
2 Adjuvants, Immunologic Phase 1
3 Androgens Phase 1
4 Hormone Antagonists Phase 1
5 Hormones Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
7 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assess the Effect of Dehydroepiandrosterone (DHEA) or Other Androgenic Agents Over Markers of Ovarian Reserve Unknown status NCT02268032 Phase 1 DHEA;Another Androgenic Agent (VRaA);Fixed combination of 2 androgenic agents (VR2A)

Search 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 Chromosome 1, Ring 29

Anatomical Context for Ring Chromosome 1

Publications for Ring Chromosome 1

Articles related to Ring Chromosome 1:

(show all 11)
# Title Authors Year
1
Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. ( 21145991 )
2011
2
Prenatal diagnosis of supernumerary ring chromosome 1: case report and review of the literature. ( 17710876 )
2007
3
Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia. ( 16914909 )
2006
4
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --&amp;gt; q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay. ( 15633178 )
2005
5
Three new cases with a supernumerary ring chromosome 1. ( 16155417 )
2005
6
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. ( 12910498 )
2003
7
Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. ( 15004460 )
2003
8
Ring chromosome 1 in a newborn. ( 10826627 )
2000
9
Deletion of HMG17 in uterine leiomyomas with ring chromosome 1. ( 9973936 )
1999
10
Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. ( 7625449 )
1995
11
Ring chromosome 1 associated with radial ray defect. ( 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 HMGA1 HMGA2
2
Show member pathways
10.97 HMGA1 HMGA2

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 HMGA1 HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding transcription factor activity GO:0051091 9.37 HMGA2 TRIM62
2 response to virus GO:0009615 9.32 HMGA1 HMGA2
3 base-excision repair GO:0006284 9.26 HMGA1 HMGA2
4 positive regulation of cellular senescence GO:2000774 9.16 HMGA1 HMGA2
5 senescence-associated heterochromatin focus assembly GO:0035986 8.96 HMGA1 HMGA2
6 oncogene-induced cell senescence GO:0090402 8.62 HMGA1 HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.26 HMGA1 HMGA2
2 transcription factor binding GO:0008134 9.16 HMGA1 HMGA2
3 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 8.96 HMGA1 HMGA2
4 AT DNA binding GO:0003680 8.62 HMGA1 HMGA2

Sources for Ring Chromosome 1

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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