R1
MCID: RNG004
MIFTS: 38

Ring Chromosome 1 (R1)

Categories: Fetal diseases, Neuronal diseases, Rare 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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1437Disease definitionRing 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 1, also known as ring chromosome 1 syndrome, is related to adenocarcinoma and pancreatic cancer. An important gene associated with Ring Chromosome 1 is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and DNA Damage/Telomere Stress Induced Senescence. The drugs Dehydroepiandrosterone and DHEA (Dehydroepiandrosterone) have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and pancreas, and related phenotypes are ptosis and wide nasal bridge

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 top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 10.2
2 pancreatic cancer 10.1
3 herpes simplex 10.1
4 colorectal cancer 10.0
5 retinitis pigmentosa 1 10.0
6 lung cancer 10.0
7 gastric cancer 10.0
8 pancreatic ductal adenocarcinoma 10.0
9 small cell cancer of the lung 9.9
10 squamous cell carcinoma 9.9
11 colon adenocarcinoma 9.9
12 pelvic lipomatosis 9.8 HMGA1 HMGA2
13 malignant ectomesenchymoma 9.8 HMGA1 HMGA2
14 myelodysplastic syndrome 9.8
15 acute leukemia 9.8
16 apnea, obstructive sleep 9.8
17 hepatocellular carcinoma 9.8
18 multiple sclerosis 9.8
19 glioma susceptibility 1 9.8
20 marfan syndrome 9.8
21 disorganization, mouse, homolog of 9.8
22 dyssegmental dysplasia, rolland-desbuquois type 9.8
23 neuroblastoma 9.8
24 squamous cell carcinoma, head and neck 9.8
25 asthma 9.8
26 langerhans cell histiocytosis 9.8
27 major depressive disorder 9.8
28 hepatitis c virus 9.8
29 microvascular complications of diabetes 3 9.8
30 microvascular complications of diabetes 4 9.8
31 microvascular complications of diabetes 6 9.8
32 microvascular complications of diabetes 7 9.8
33 muscle hypertrophy 9.8
34 cholangiocarcinoma 9.8
35 hemophagocytic lymphohistiocytosis 9.8
36 hepatitis 9.8
37 leukemia 9.8
38 lymphoid leukemia 9.8
39 pancreas adenocarcinoma 9.8
40 temporal lobe epilepsy 9.8
41 loeys-dietz syndrome 9.8
42 sleep apnea 9.8
43 diabetic encephalopathy 9.8
44 osteomyelitis 9.8
45 pre-eclampsia 9.8
46 alveolar echinococcosis 9.8
47 facial paralysis 9.8
48 echinococcosis 9.8
49 epilepsy 9.8
50 hepatitis c 9.8

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

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 1 53-43-0 5881
2 DHEA (Dehydroepiandrosterone) Phase 1
3 Immunologic Factors Phase 1
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
5 Hormones Phase 1
6 Hormone Antagonists Phase 1
7 Androgens Phase 1
8 Adjuvants, Immunologic 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

MalaCards organs/tissues related to Ring Chromosome 1:

41
Lung, Colon, Pancreas, Temporal Lobe

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 negative regulation of transcription, DNA-templated GO:0045892 9.37 HMGA1 HMGA2
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 transcription factor binding GO:0008134 9.16 HMGA1 HMGA2
2 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 8.96 HMGA1 HMGA2
3 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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