R7
MCID: RNG023
MIFTS: 50

Ring Chromosome 7 (R7)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 7

Summaries for Ring Chromosome 7

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1449Disease definitionRing 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, café-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).Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 7, also known as chromosome 7 ring syndrome, is related to glioblastoma and lymphoma. An important gene associated with Ring Chromosome 7 is CDK4 (Cyclin Dependent Kinase 4), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence (REACTOME). Affiliated tissues include cerebellum, skin and heart, and related phenotypes are malar flattening and genu valgum

Related Diseases for Ring Chromosome 7

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 glioblastoma 29.3 CDK4 MDM2 TP53
2 lymphoma 10.1
3 liver angiosarcoma 10.0 CDK4 TP53
4 myelodysplastic syndrome 10.0
5 holoprosencephaly 10.0
6 melanoma 10.0
7 zika virus infection 10.0 MDM2 TP53
8 actinic cheilitis 10.0 MDM2 TP53
9 cheilitis 10.0 MDM2 TP53
10 sclerosing liposarcoma 10.0 MDM2 TP53
11 lip cancer 10.0 MDM2 TP53
12 histiocytoma 10.0 MDM2 TP53
13 gliomatosis cerebri 9.9 MDM2 TP53
14 soft tissue sarcoma 9.9 MDM2 TP53
15 myxosarcoma 9.9 MDM2 TP53
16 verrucous carcinoma 9.9 MDM2 TP53
17 cardia cancer 9.9 MDM2 TP53
18 gliosarcoma 9.9 CDK4 TP53
19 undifferentiated embryonal sarcoma of the liver 9.9 CDK4 MDM2
20 infiltrating angiolipoma 9.9 CDK4 MDM2
21 spindle cell lipoma 9.9 CDK4 MDM2
22 cellular myxoid liposarcoma 9.9 CDK4 MDM2
23 inflammatory mfh 9.9 CDK4 MDM2
24 lipoblastoma 9.9 CDK4 MDM2
25 adult medulloblastoma 9.9 MDM2 TP53
26 malignant fibrous histiocytoma of bone 9.9 CDK4 MDM2
27 cellular schwannoma 9.9 MDM2 TP53
28 bone osteosarcoma 9.9 CDK4 MDM2
29 atypical lipomatous tumor 9.9 CDK4 MDM2
30 mixed liposarcoma 9.9 CDK4 MDM2
31 periosteal chondrosarcoma 9.9 CDK4 MDM2
32 muscle cancer 9.9 MDM2 TP53
33 chondroid lipoma 9.9 CDK4 MDM2
34 spindle cell liposarcoma 9.9 CDK4 MDM2
35 ischemic fasciitis 9.9 CDK4 MDM2
36 well-differentiated liposarcoma 9.9 CDK4 MDM2
37 giant cell glioblastoma 9.9 MDM2 TP53
38 infiltrating lipoma 9.9 CDK4 MDM2
39 juxtacortical osteosarcoma 9.9 CDK4 MDM2
40 supratentorial cancer 9.9 MDM2 TP53
41 peripheral osteosarcoma 9.9 CDK4 MDM2
42 lipomatosis, multiple 9.9 CDK4 MDM2
43 malignant fibroxanthoma 9.9 CDK4 MDM2
44 cerebrum cancer 9.9 MDM2 TP53
45 fibrosarcoma of bone 9.9 CDK4 MDM2
46 skin melanoma 9.9 MDM2 TP53
47 melanoma, cutaneous malignant 1 9.9 CDK4 TP53
48 pleomorphic adenoma 9.9 MDM2 TP53
49 li-fraumeni syndrome 9.8 MDM2 TP53
50 rhabdomyosarcoma 2 9.8 CDK4 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:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 hyperpigmented nevi 59 32 occasional (7.5%) Occasional (29-5%) HP:0007481
4 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
5 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
7 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
8 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
11 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
12 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
13 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
14 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
15 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
16 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
17 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
18 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
19 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
20 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
21 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
22 clinodactyly of the 5th finger 59 32 very rare (1%) Very rare (<4-1%) HP:0004209
23 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
24 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
25 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
26 small earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0000385
27 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
28 highly arched eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002553
29 slender finger 59 32 frequent (33%) Frequent (79-30%) HP:0001238
30 holoprosencephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0001360
31 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
32 hypotelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000601
33 plagiocephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0001357
34 situs inversus totalis 59 32 very rare (1%) Very rare (<4-1%) HP:0001696
35 facial hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000329
36 bifid uvula 59 32 very rare (1%) Very rare (<4-1%) HP:0000193
37 single transverse palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0000954
38 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
39 esotropia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000565
40 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
41 short 5th finger 59 32 very rare (1%) Very rare (<4-1%) HP:0009237
42 abnormality of the posterior cranial fossa 59 32 hallmark (90%) Very frequent (99-80%) HP:0000932
43 bilateral ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001488
44 flat forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0004425
45 unilateral ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007687
46 speech articulation difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0009088
47 prominent crus of helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009899
48 narrow naris 59 32 frequent (33%) Frequent (79-30%) HP:0009933
49 heart murmur 59 32 frequent (33%) Frequent (79-30%) HP:0030148
50 hydrocele testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000034

MGI Mouse Phenotypes related to Ring Chromosome 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.54 CDK4 MDM2 TP53
2 liver/biliary system MP:0005370 9.5 CDK4 MDM2 TP53
3 muscle MP:0005369 9.43 CDK4 MDM2 TP53
4 neoplasm MP:0002006 9.33 CDK4 MDM2 TP53
5 pigmentation MP:0001186 9.13 CDK4 MDM2 TP53
6 renal/urinary system MP:0005367 8.8 CDK4 MDM2 TP53

Drugs & Therapeutics for Ring Chromosome 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial of Shang Ring Male Children Circumcision: Comparison Between Flip and No Flip Technique Completed NCT02481492 Not Applicable

Search 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 Chromosome 7 Ring Syndrome 29

Anatomical Context for Ring Chromosome 7

MalaCards organs/tissues related to Ring Chromosome 7:

41
Cerebellum, Skin, Heart, T Cells, Myeloid, Liver, Bone

Publications for Ring Chromosome 7

Articles related to Ring Chromosome 7:

(show all 32)
# Title Authors Year
1
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. ( 30553467 )
2018
2
Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML). ( 27849184 )
2016
3
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. ( 24677512 )
2014
4
Donor cell-derived myelodysplastic syndrome with ring chromosome 7 after allogeneic hematopoietic stem cell transplant in 2 patients with lymphomas as primary disease. ( 25022600 )
2014
5
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. ( 23509645 )
2013
6
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. ( 21303521 )
2011
7
Ring chromosome 7 in an Indian woman. ( 18300171 )
2008
8
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. ( 18924230 )
2008
9
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. ( 16737917 )
2006
10
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. ( 16866301 )
2006
11
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. ( 16941150 )
2006
12
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. ( 15580634 )
2005
13
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. ( 16007665 )
2005
14
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. ( 15523614 )
2004
15
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. ( 12431259 )
2002
16
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. ( 12000362 )
2002
17
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. ( 10797441 )
2000
18
Silver-Russell syndrome and ring chromosome 7. ( 10905891 )
2000
19
Ring chromosome 7 and sacral agenesis. ( 10982483 )
2000
20
Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report. ( 10565294 )
1999
21
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. ( 8911601 )
1996
22
Case of ring chromosome 7: the first report of neuropathological findings. ( 8362903 )
1993
23
Cutaneous findings in ring chromosome 7 syndrome. ( 8428052 )
1993
24
Melanoma associated with ring chromosome 7. ( 8428043 )
1993
25
Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma. ( 1415332 )
1992
26
Severe anomalies associated with ring chromosome 7. ( 1746606 )
1991
27
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. ( 2395166 )
1990
28
Ring chromosome 7: report of the fifth case. ( 2189730 )
1990
29
Ring chromosome 7: report of a case. ( 3150243 )
1988
30
Cytogenetics of ring chromosome 7. ( 6705244 )
1984
31
A fourth case of ring chromosome 7. ( 7172483 )
1982
32
Ring chromosome 7 with variable phenotypic expression. ( 4145271 )
1973

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CDK4 MDM2 TP53
2
Show member pathways
12.8 CDK4 MDM2 TP53
3
Show member pathways
12.72 CDK4 MDM2 TP53
4
Show member pathways
12.66 CDK4 MDM2 TP53
5
Show member pathways
12.54 CDK4 MDM2 TP53
6 12.51 CDK4 MDM2 TP53
7
Show member pathways
12.46 CDK4 MDM2 TP53
8
Show member pathways
12.39 CDK4 MDM2 TP53
9
Show member pathways
12.26 CDK4 MDM2 TP53
10 12.21 CDK4 MDM2 TP53
11
Show member pathways
12.08 CDK4 MDM2 TP53
12 12.06 CDK4 MDM2 TP53
14 12.01 MDM2 TP53
15 11.99 CDK4 MDM2 TP53
16 11.97 MDM2 TP53
17 11.97 CDK4 MDM2 TP53
18
Show member pathways
11.91 CDK4 MDM2 TP53
19
Show member pathways
11.91 CDK4 MDM2 TP53
20 11.81 MDM2 TP53
21 11.81 CDK4 MDM2 TP53
22 11.81 CDK4 MDM2 TP53
23 11.78 MDM2 TP53
24 11.77 CDK4 TP53
25 11.77 CDK4 MDM2 TP53
26 11.75 MDM2 TP53
27 11.74 MDM2 TP53
28 11.7 MDM2 TP53
29 11.64 CDK4 TP53
30
Show member pathways
11.61 MDM2 TP53
31 11.59 CDK4 MDM2 TP53
32 11.58 MDM2 TP53
33 11.57 CDK4 TP53
34 11.52 MDM2 TP53
35
Show member pathways
11.51 MDM2 TP53
36 11.44 CDK4 MDM2 TP53
37 11.43 MDM2 TP53
38 11.41 MDM2 TP53
39 11.37 MDM2 TP53
40 11.37 MDM2 TP53
41
Show member pathways
11.36 MDM2 TP53
42 11.3 CDK4 MDM2 TP53
43 11.1 CDK4 TP53
44 11.08 MDM2 TP53
45 10.99 CDK4 MDM2 TP53
46 10.93 MDM2 TP53
47
Show member pathways
10.92 MDM2 TP53
48 10.78 CDK4 MDM2 TP53
49 10.3 CDK4 MDM2 TP53

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 CDK4 MDM2 TP53
2 protein-containing complex GO:0032991 8.8 CDK4 MDM2 TP53

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.49 MDM2 TP53
2 protein-containing complex assembly GO:0065003 9.48 MDM2 TP53
3 response to toxic substance GO:0009636 9.46 CDK4 MDM2
4 regulation of signal transduction by p53 class mediator GO:1901796 9.43 MDM2 TP53
5 positive regulation of cell cycle GO:0045787 9.4 CDK4 MDM2
6 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.37 MDM2 TP53
7 response to antibiotic GO:0046677 9.32 MDM2 TP53
8 cellular response to gamma radiation GO:0071480 9.26 MDM2 TP53
9 negative regulation of cell cycle arrest GO:0071157 9.16 CDK4 MDM2
10 positive regulation of protein export from nucleus GO:0046827 8.96 MDM2 TP53
11 cellular response to actinomycin D GO:0072717 8.62 MDM2 TP53

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 MDM2 TP53
2 p53 binding GO:0002039 8.96 MDM2 TP53
3 disordered domain specific binding GO:0097718 8.62 MDM2 TP53

Sources for Ring Chromosome 7

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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