MCID: RNG023
MIFTS: 50

Ring Chromosome 7

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 7

Summaries for Ring Chromosome 7

MalaCards based summary : Ring Chromosome 7, also known as chromosome 7 ring syndrome, is related to glioblastoma and neuronitis, and has symptoms including hypospadias, hypogonadism and narrow mouth. 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 Endometrial cancer. Affiliated tissues include heart, skin and cerebellum, and related phenotypes are digestive/alimentary and liver/biliary system

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 94)
# Related Disease Score Top Affiliating Genes
1 glioblastoma 28.8 CDK4 MDM2 TP53
2 neuronitis 10.1
3 liver angiosarcoma 10.0 CDK4 TP53
4 lymphoma 9.9
5 melanoma, cutaneous malignant 1 9.9 CDK4 TP53
6 actinic cheilitis 9.9 MDM2 TP53
7 sclerosing liposarcoma 9.9 MDM2 TP53
8 lip cancer 9.9 MDM2 TP53
9 anal squamous cell carcinoma 9.9 MDM2 TP53
10 gliosarcoma 9.9 CDK4 TP53
11 cell type cancer 9.9 CDK4 TP53
12 gliomatosis cerebri 9.9 MDM2 TP53
13 soft tissue sarcoma 9.9 MDM2 TP53
14 myxosarcoma 9.9 MDM2 TP53
15 cheilitis 9.9 MDM2 TP53
16 cellular schwannoma 9.9 MDM2 TP53
17 myelodysplastic syndrome 9.9
18 holoprosencephaly 9.9
19 melanoma 9.9
20 undifferentiated embryonal sarcoma of the liver 9.9 CDK4 MDM2
21 infiltrating angiolipoma 9.9 CDK4 MDM2
22 spindle cell lipoma 9.9 CDK4 MDM2
23 extraosseous osteosarcoma 9.9 CDK4 MDM2
24 adult medulloblastoma 9.8 MDM2 TP53
25 inflammatory mfh 9.8 CDK4 MDM2
26 bone osteosarcoma 9.8 CDK4 MDM2
27 lipoblastoma 9.8 CDK4 MDM2
28 muscle cancer 9.8 MDM2 TP53
29 mixed liposarcoma 9.8 CDK4 MDM2
30 malignant fibrous histiocytoma of bone 9.8 CDK4 MDM2
31 giant cell glioblastoma 9.8 MDM2 TP53
32 ischemic fasciitis 9.8 CDK4 MDM2
33 periosteal chondrosarcoma 9.8 CDK4 MDM2
34 atypical lipomatous tumor 9.8 CDK4 MDM2
35 spindle cell liposarcoma 9.8 CDK4 MDM2
36 well-differentiated liposarcoma 9.8 CDK4 MDM2
37 chondroid lipoma 9.8 CDK4 MDM2
38 myeloma, multiple 9.8 CDK4 TP53
39 skin melanoma 9.8 MDM2 TP53
40 infiltrating lipoma 9.8 CDK4 MDM2
41 pleomorphic lipoma 9.8 CDK4 MDM2
42 pleomorphic adenoma 9.8 MDM2 TP53
43 juxtacortical osteosarcoma 9.8 CDK4 MDM2
44 inflammatory myofibroblastic tumor 9.8 MDM2 TP53
45 lipomatosis, multiple 9.8 CDK4 MDM2
46 peripheral osteosarcoma 9.8 CDK4 MDM2
47 malignant fibroxanthoma 9.8 CDK4 MDM2
48 squamous cell carcinoma, head and neck 9.8 CDK4 TP53
49 fibrosarcoma of bone 9.8 CDK4 MDM2
50 li-fraumeni syndrome 9.8 MDM2 TP53

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:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 55 31 hallmark (90%) Very frequent (99-80%) HP:0000047
2 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
3 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
4 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
5 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
8 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 low anterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0000294
10 short philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000322
11 small earlobe 55 31 hallmark (90%) Very frequent (99-80%) HP:0000385
12 prominent nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000426
13 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
14 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
15 hypotelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000601
16 abnormality of the posterior cranial fossa 55 31 hallmark (90%) Very frequent (99-80%) HP:0000932
17 motor delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001270
18 bilateral ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001488
19 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
20 highly arched eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0002553
21 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
22 flat forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0004425
23 unilateral ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0007687
24 severe intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008846
25 speech articulation difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0009088
26 prominent crus of helix 55 31 hallmark (90%) Very frequent (99-80%) HP:0009899
27 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
28 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
29 slender finger 55 31 frequent (33%) Frequent (79-30%) HP:0001238
30 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
31 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
32 narrow naris 55 31 frequent (33%) Frequent (79-30%) HP:0009933
33 heart murmur 55 31 frequent (33%) Frequent (79-30%) HP:0030148
34 hydrocele testis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000034
35 mandibular prognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000303
36 facial hemangioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000329
37 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
38 esotropia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000565
39 single transverse palmar crease 55 31 occasional (7.5%) Occasional (29-5%) HP:0000954
40 cafe-au-lait spot 55 31 occasional (7.5%) Occasional (29-5%) HP:0000957
41 abnormality of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001317
42 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
43 melanoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002861
44 lumbar kyphoscoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004619
45 hyperpigmented nevi 55 31 occasional (7.5%) Occasional (29-5%) HP:0007481
46 small hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0200055
47 bifid uvula 55 31 very rare (1%) Very rare (<4-1%) HP:0000193
48 plagiocephaly 55 31 very rare (1%) Very rare (<4-1%) HP:0001357
49 holoprosencephaly 55 31 very rare (1%) Very rare (<4-1%) HP:0001360
50 situs inversus totalis 55 31 very rare (1%) Very rare (<4-1%) HP:0001696

MGI Mouse Phenotypes related to Ring Chromosome 7:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 CDK4 MDM2 TP53
2 liver/biliary system MP:0005370 9.43 CDK4 MDM2 TP53
3 neoplasm MP:0002006 9.33 CDK4 MDM2 TP53
4 pigmentation MP:0001186 9.13 CDK4 MDM2 TP53
5 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

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 28

Anatomical Context for Ring Chromosome 7

MalaCards organs/tissues related to Ring Chromosome 7:

38
Heart, Skin, Cerebellum, Testis, T Cells, Myeloid

Publications for Ring Chromosome 7

Articles related to Ring Chromosome 7:

(show all 31)
# Title Authors Year
1
Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML). ( 27849184 )
2016
2
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. ( 24677512 )
2014
3
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
4
First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7. ( 23509645 )
2013
5
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. ( 21303521 )
2011
6
Ring chromosome 7 in an Indian woman. ( 18300171 )
2008
7
Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient. ( 18924230 )
2008
8
Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma. ( 16737917 )
2006
9
Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. ( 16941150 )
2006
10
Primary glioblastoma with EGFR amplification and a ring chromosome 7 in a young patient. ( 16866301 )
2006
11
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
12
Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. ( 15580634 )
2005
13
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. ( 15523614 )
2004
14
De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. ( 12000362 )
2002
15
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. ( 12431259 )
2002
16
Silver-Russell syndrome and ring chromosome 7. ( 10905891 )
2000
17
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. ( 10797441 )
2000
18
Ring chromosome 7 and sacral agenesis. ( 10982483 )
2000
19
Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report. ( 10565294 )
1999
20
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. ( 8911601 )
1996
21
Melanoma associated with ring chromosome 7. ( 8428043 )
1993
22
Cutaneous findings in ring chromosome 7 syndrome. ( 8428052 )
1993
23
Case of ring chromosome 7: the first report of neuropathological findings. ( 8362903 )
1993
24
Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma. ( 1415332 )
1992
25
Severe anomalies associated with ring chromosome 7. ( 1746606 )
1991
26
Ring chromosome 7: report of the fifth case. ( 2189730 )
1990
27
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. ( 2395166 )
1990
28
Ring chromosome 7: report of a case. ( 3150243 )
1988
29
Cytogenetics of ring chromosome 7. ( 6705244 )
1984
30
A fourth case of ring chromosome 7. ( 7172483 )
1982
31
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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CDK4 MDM2 TP53
2
Show member pathways
12.71 CDK4 MDM2 TP53
3
Show member pathways
12.64 CDK4 MDM2 TP53
4 12.52 CDK4 MDM2 TP53
5
Show member pathways
12.38 CDK4 MDM2 TP53
6
Show member pathways
12.29 CDK4 MDM2 TP53
7
Show member pathways
12.28 CDK4 MDM2 TP53
8 12.2 CDK4 MDM2 TP53
9
Show member pathways
12.07 CDK4 MDM2 TP53
10 12.06 CDK4 MDM2 TP53
11 11.99 CDK4 MDM2 TP53
12 11.96 MDM2 TP53
13
Show member pathways
11.94 CDK4 MDM2 TP53
14
Show member pathways
11.91 CDK4 MDM2 TP53
15 11.86 CDK4 MDM2 TP53
16 11.82 CDK4 MDM2 TP53
17 11.81 MDM2 TP53
18
Show member pathways
11.79 CDK4 MDM2 TP53
19 11.77 MDM2 TP53
20 11.76 CDK4 TP53
21 11.75 MDM2 TP53
22 11.74 MDM2 TP53
23 11.7 MDM2 TP53
24 11.7 CDK4 MDM2 TP53
25 11.64 CDK4 TP53
26
Show member pathways
11.61 MDM2 TP53
27 11.59 CDK4 MDM2 TP53
28 11.58 MDM2 TP53
29 11.57 CDK4 TP53
30 11.51 MDM2 TP53
31
Show member pathways
11.51 MDM2 TP53
32 11.44 CDK4 MDM2 TP53
33 11.41 MDM2 TP53
34 11.37 MDM2 TP53
35 11.36 MDM2 TP53
36
Show member pathways
11.36 MDM2 TP53
37 11.3 CDK4 MDM2 TP53
38 11.12 CDK4 TP53
39 11.1 MDM2 TP53
40 10.99 CDK4 MDM2 TP53
41 10.92 MDM2 TP53
42
Show member pathways
10.91 MDM2 TP53
43 10.78 CDK4 MDM2 TP53
44 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 chromatin GO:0000785 9.16 CDK4 TP53
2 nucleolus GO:0005730 9.13 CDK4 MDM2 TP53
3 protein complex GO:0043234 8.8 CDK4 MDM2 TP53

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.52 MDM2 TP53
2 protein complex assembly GO:0006461 9.51 MDM2 TP53
3 response to drug GO:0042493 9.5 CDK4 MDM2 TP53
4 cellular response to hypoxia GO:0071456 9.49 MDM2 TP53
5 response to toxic substance GO:0009636 9.48 CDK4 MDM2
6 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.46 MDM2 TP53
7 response to antibiotic GO:0046677 9.43 MDM2 TP53
8 cellular response to gamma radiation GO:0071480 9.4 MDM2 TP53
9 negative regulation of cell cycle arrest GO:0071157 9.37 CDK4 MDM2
10 response to hyperoxia GO:0055093 9.26 CDK4 TP53
11 positive regulation of protein export from nucleus GO:0046827 9.16 MDM2 TP53
12 cellular response to actinomycin D GO:0072717 8.96 MDM2 TP53
13 positive regulation of cell cycle GO:0045787 8.8 CDK4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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