R7
MCID: RNG023
MIFTS: 43

Ring Chromosome 7 (R7)

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

Aliases & Classifications for Ring Chromosome 7

MalaCards integrated aliases for Ring Chromosome 7:

Name: Ring Chromosome 7 20 58 29 70
Ring 7 20 58
Ring Chromosome 7 Syndrome 58
Chromosome 7 Ring Syndrome 70
Chromosome 7 Ring 20
R7 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Ring Chromosome 7

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1449 Definition Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

MalaCards based summary : Ring Chromosome 7, also known as ring 7, is related to ring chromosome and leukemia, acute myeloid. An important gene associated with Ring Chromosome 7 is CDK4 (Cyclin Dependent Kinase 4), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and PI3K-Akt signaling pathway. Affiliated tissues include cerebellum, heart and testis, and related phenotypes are wide nasal bridge and microcephaly

Related Diseases for Ring Chromosome 7

Diseases in the Ring Chromosome 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
Ring Chromosome Y Syndrome

Diseases related to Ring Chromosome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 30.4 TP53 MDM2 CDK4
2 leukemia, acute myeloid 29.3 TP53 MDM2 CDK4
3 lymphoma 29.2 TP53 MDM2 CDK4
4 glioblastoma 29.1 TP53 MDM2 CDK4
5 chromosomal triplication 10.3
6 microcephaly 10.2
7 holoprosencephaly 10.1
8 hepatosplenic t-cell lymphoma 10.1
9 myelodysplastic syndrome 10.0
10 leukemia 10.0
11 myeloid leukemia 10.0
12 anomaly of chromosome 7 10.0
13 nodular malignant melanoma 10.0 TP53 CDK4
14 dermatofibrosarcoma protuberans 9.9 TP53 CDK4
15 actinic cheilitis 9.9 TP53 MDM2
16 cheilitis 9.9 TP53 MDM2
17 esophagus verrucous carcinoma 9.9 TP53 MDM2
18 verrucous carcinoma 9.9 TP53 MDM2
19 periosteal osteogenic sarcoma 9.9 TP53 MDM2
20 pilocytic astrocytoma 9.9 TP53 CDK4
21 maxillary sinus adenocarcinoma 9.9 TP53 MDM2
22 soft tissue sarcoma 9.9 TP53 MDM2
23 conventional fibrosarcoma 9.9 TP53 MDM2
24 adult astrocytic tumour 9.9 TP53 MDM2
25 lip cancer 9.9 TP53 MDM2
26 malignant spiradenoma 9.9 TP53 MDM2
27 plasma cell neoplasm 9.9 TP53 CDK4
28 saethre-chotzen syndrome 9.9
29 silver-russell syndrome 1 9.9
30 leukemia, acute lymphoblastic 9.9
31 alacrima, achalasia, and mental retardation syndrome 9.9
32 peripheral t-cell lymphoma 9.9
33 neutropenia 9.9
34 thrombocytopenia 9.9
35 hemangioma 9.9
36 t-cell acute lymphoblastic leukemia 9.9
37 cleft lip 9.9
38 hypereosinophilic syndrome 9.9
39 diencephalic syndrome 9.9
40 spitz nevus 9.9
41 splenomegaly 9.9
42 cleft lip/palate 9.9
43 partial duplication of chromosome 7 9.9
44 semilobar holoprosencephaly 9.9
45 precursor t-cell acute lymphoblastic leukemia 9.9
46 anal squamous cell carcinoma 9.9 TP53 MDM2
47 sapho syndrome 9.9 TP53 MDM2
48 sarcomatoid renal cell carcinoma 9.9 TP53 MDM2
49 mediastinum liposarcoma 9.9 MDM2 CDK4
50 gliomatosis cerebri 9.9 TP53 MDM2

Graphical network of the top 20 diseases related to Ring Chromosome 7:



Diseases related to Ring Chromosome 7

Symptoms & Phenotypes for Ring Chromosome 7

Human phenotypes related to Ring Chromosome 7:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
8 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
11 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
12 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
13 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
14 small earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0000385
15 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
16 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
17 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
18 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
19 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
20 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
21 prominent crus of helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009899
22 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
23 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
24 bilateral ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001488
25 flat forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0004425
26 unilateral ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007687
27 speech articulation difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0009088
28 abnormal posterior cranial fossa morphology 31 hallmark (90%) HP:0000932
29 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
30 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
31 slender finger 58 31 frequent (33%) Frequent (79-30%) HP:0001238
32 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
33 narrow naris 58 31 frequent (33%) Frequent (79-30%) HP:0009933
34 hyperpigmented nevi 58 31 occasional (7.5%) Occasional (29-5%) HP:0007481
35 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
36 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
37 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
38 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
39 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
40 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
41 facial hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000329
42 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
43 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
44 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
45 hydrocele testis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000034
46 lumbar kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004619
47 clinodactyly of the 5th finger 58 31 very rare (1%) Very rare (<4-1%) HP:0004209
48 holoprosencephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001360
49 plagiocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0001357
50 situs inversus totalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001696

MGI Mouse Phenotypes related to Ring Chromosome 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.13 CDK4 MDM2 TP53
2 pigmentation MP:0001186 8.8 CDK4 MDM2 TP53

Drugs & Therapeutics for Ring Chromosome 7

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

Genetic tests related to Ring Chromosome 7:

# Genetic test Affiliating Genes
1 Ring Chromosome 7 29

Anatomical Context for Ring Chromosome 7

MalaCards organs/tissues related to Ring Chromosome 7:

40
Cerebellum, Heart, Testis, Myeloid, Testes

Publications for Ring Chromosome 7

Articles related to Ring Chromosome 7:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome. 61
33522711 2021
2
Ring chromosome 7 in a child with T-cell acute lymphoblastic leukemia with myeloid markers. 61
33678971 2021
3
On-Surface Synthesis and Characterization of [7]Triangulene Quantum Ring. 61
33305570 2021
4
Alternating Ring-Opening Metathesis Polymerization Provides Easy Access to Functional and Fully Degradable Polymers. 61
33776145 2020
5
Total Synthesis of Talatisamine. 61
31677324 2020
6
Topoisomerase IB poisons induce histone H2A phosphorylation as a response to DNA damage in Leishmania infantum. 61
31563118 2019
7
Color stability, roughness, and water sorption/solubility of glass ionomer-Based restorative materials. 61
31187769 2019
8
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. 61
30553467 2018
9
Camptotheca acuminata 10-hydroxycamptothecin O-methyltransferase: an alkaloid biosynthetic enzyme co-opted from flavonoid metabolism. 61
29681057 2018
10
A case of lenalidomide-dependent myelodysplastic syndrome. 61
29296763 2017
11
Contraceptive Practices of Women With Complex Congenital Heart Disease. 61
28087052 2017
12
Genome-Wide Identification and Characterization of SPX Domain-Containing Members and Their Responses to Phosphate Deficiency in Brassica napus. 61
28179909 2017
13
Asymmetric Total Synthesis of (+)-Ryanodol and (+)-Ryanodine. 61
26616265 2016
14
Probing the ATP Site of GRP78 with Nucleotide Triphosphate Analogs. 61
27144892 2016
15
Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML). 61
27849184 2016
16
Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association. 61
26226839 2015
17
Donor cell-derived myelodysplastic syndrome with ring chromosome 7 after allogeneic hematopoietic stem cell transplant in 2 patients with lymphomas as primary disease. 61
25022600 2014
18
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. 61
24677512 2014
19
Breakdown of interference rules in azulene, a nonalternant hydrocarbon. 61
24745894 2014
20
Synthesis of [7-(14) C]bergapten. 61
24408218 2014
21
Segmentation of the millipede trunk as suggested by a homeotic mutant with six extra pairs of gonopods. 61
24438178 2014
22
Synthesis of all stereoisomers of 3,3'-dimethoxy-7,7'-epoxylignane-4,4'-diol and their plant growth inhibitory activity. 61
24417732 2014
23
Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. 61
25057852 2014
24
Comparison of methods to measure corneal power for intraocular lens power calculation using a rotating Scheimpflug camera. 61
23403064 2013
25
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. 61
23509645 2013
26
Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications. 61
22565657 2012
27
Deoxyguanosine forms a bis-adduct with E,E-muconaldehyde, an oxidative metabolite of benzene: implications for the carcinogenicity of benzene. 61
21972945 2011
28
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. 61
21303521 2011
29
4-(3-Aryloxyaryl)quinoline sulfones are potent liver X receptor agonists. 61
19932617 2010
30
Concise synthesis of the bryostatin A-ring via consecutive C-C bond forming transfer hydrogenations. 61
19586066 2009
31
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. 61
18924230 2008
32
Ring chromosome 7 in an Indian woman. 61
18300171 2008
33
Radical dynamics of puerarin as revealed by laser flash photolysis and spin density analysis. 61
18232684 2008
34
Cell division requires a direct link between microtubule-bound RacGAP and Anillin in the contractile ring. 61
18158242 2008
35
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome. 61
18049079 2008
36
[Lens fiber differentiation in rats posterior capsule opacification]. 61
17605911 2007
37
Mutational analysis of the Medicago glycosyltransferase UGT71G1 reveals residues that control regioselectivity for (iso)flavonoid glycosylation. 61
16982612 2006
38
Functional analysis of members of the isoflavone and isoflavanone O-methyltransferase enzyme families from the model legume Medicago truncatula. 61
17001495 2006
39
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. 61
16941150 2006
40
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. 61
16866301 2006
41
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. 61
16737917 2006
42
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay. 61
16007665 2005
43
Annular height-to-commissural width ratio of annulolasty rings in vivo. 61
16159857 2005
44
Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome. 61
15796967 2005
45
Coordination assembled rings of ferrocene-bridged trisporphyrin with flexible hinge-like motion: selective dimer ring formation, its transformation to larger rings, and vice versa. 61
15713098 2005
46
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. 61
15580634 2005
47
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. 61
15523614 2004
48
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. 61
15337469 2004
49
Synthesis and preliminary biological evaluation of truncated zoanthenol analogues. 61
15109670 2004
50
Quantum chemical density-functional theory calculations of the structures of defect C60 with four vacancies. 61
15267713 2004

Variations for Ring Chromosome 7

Expression for Ring Chromosome 7

Search GEO for disease gene expression data for Ring Chromosome 7.

Pathways for Ring Chromosome 7

Pathways related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 TP53 MDM2 CDK4
2
Show member pathways
12.66 TP53 MDM2 CDK4
3
Show member pathways
12.61 TP53 MDM2 CDK4
4
Show member pathways
12.54 TP53 MDM2 CDK4
5 12.51 TP53 MDM2 CDK4
6
Show member pathways
12.49 TP53 MDM2 CDK4
7
Show member pathways
12.38 TP53 MDM2 CDK4
8
Show member pathways
12.35 TP53 MDM2 CDK4
9
Show member pathways
12.24 TP53 MDM2 CDK4
10 12.17 TP53 MDM2 CDK4
11
Show member pathways
12.06 TP53 MDM2 CDK4
12 12.03 TP53 MDM2 CDK4
13 11.96 TP53 MDM2 CDK4
14
Show member pathways
11.9 TP53 MDM2 CDK4
15
Show member pathways
11.9 TP53 MDM2 CDK4
16 11.81 TP53 MDM2
17 11.8 TP53 MDM2 CDK4
18 11.77 TP53 MDM2
19 11.77 TP53 MDM2 CDK4
20 11.76 TP53 CDK4
21 11.74 TP53 MDM2
22 11.7 TP53 MDM2
23 11.63 TP53 CDK4
24
Show member pathways
11.61 TP53 MDM2
25 11.59 TP53 MDM2 CDK4
26 11.58 TP53 MDM2
27 11.57 TP53 CDK4
28
Show member pathways
11.52 TP53 MDM2
29 11.51 TP53 MDM2
30 11.44 TP53 MDM2 CDK4
31 11.42 TP53 MDM2
32 11.41 TP53 MDM2
33
Show member pathways
11.37 TP53 MDM2
34 11.36 TP53 MDM2
35 11.36 TP53 MDM2
36 11.3 TP53 MDM2 CDK4
37 11.1 TP53 CDK4
38 11.08 TP53 MDM2
39 10.99 TP53 MDM2 CDK4
40
Show member pathways
10.91 TP53 MDM2
41 10.9 TP53 MDM2
42 10.78 TP53 MDM2 CDK4
43 10.3 TP53 MDM2 CDK4

GO Terms for Ring Chromosome 7

Cellular components related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.13 TP53 MDM2 CDK4
2 protein-containing complex GO:0032991 8.8 TP53 MDM2 CDK4

Biological processes related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 9.56 TP53 CDK4
2 cellular response to hypoxia GO:0071456 9.55 TP53 MDM2
3 protein-containing complex assembly GO:0065003 9.54 TP53 MDM2
4 regulation of signal transduction by p53 class mediator GO:1901796 9.52 TP53 MDM2
5 response to toxic substance GO:0009636 9.51 MDM2 CDK4
6 circadian rhythm GO:0007623 9.49 TP53 CDK4
7 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.48 TP53 MDM2
8 positive regulation of cell cycle GO:0045787 9.46 MDM2 CDK4
9 response to antibiotic GO:0046677 9.43 TP53 MDM2
10 response to drug GO:0042493 9.43 TP53 MDM2 CDK4
11 cellular response to gamma radiation GO:0071480 9.4 TP53 MDM2
12 negative regulation of cell cycle arrest GO:0071157 9.37 MDM2 CDK4
13 positive regulation of protein export from nucleus GO:0046827 9.32 TP53 MDM2
14 cardiac septum morphogenesis GO:0060411 9.16 TP53 MDM2
15 cellular response to UV-C GO:0071494 8.96 TP53 MDM2
16 cellular response to actinomycin D GO:0072717 8.62 TP53 MDM2

Molecular functions related to Ring Chromosome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.16 TP53 MDM2
2 p53 binding GO:0002039 8.96 TP53 MDM2
3 disordered domain specific binding GO:0097718 8.62 TP53 MDM2

Sources for Ring Chromosome 7

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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