R7
MCID: RNG023
MIFTS: 36

Ring Chromosome 7 (R7) malady

Rare diseases, Fetal diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Ring Chromosome 7

About this section


Fully expand this MalaCard
MalaCards based summary: Ring Chromosome 7, also known as chromosome 7 ring, is related to glioblastoma and holoprosencephaly. An important gene associated with Ring Chromosome 7 is GFAP (glial fibrillary acidic protein), and among its related pathways are ERK Signaling and PI-3K cascade. The compounds bcnu and tetracycline have been mentioned in the context of this disorder. Affiliated tissues include t cells, heart and skin, and related mouse phenotypes are muscle and digestive/alimentary.

Aliases & Classifications for Ring Chromosome 7

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ring Chromosome 7, Aliases & Descriptions:

Name: Ring Chromosome 7 42 48 62
Chromosome 7 Ring 42
 
Ring 7 42
R7 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

MESH via Orphanet35 C537813
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet63 C0795818, C2931622

Related Diseases for Ring Chromosome 7

About this section

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



Diseases related to ring chromosome 7

Symptoms for Ring Chromosome 7

About this section

Drugs & Therapeutics for Ring Chromosome 7

About this section

Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 7

Search NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

About this section

Anatomical Context for Ring Chromosome 7

About this section

MalaCards organs/tissues related to Ring Chromosome 7:

32
T cells, Heart, Skin

Animal Models for Ring Chromosome 7 or affiliated genes

About this section

MGI Mouse Phenotypes related to Ring Chromosome 7:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EGFR, GFAP
2MP:00053819.0EGFR, GFAP
3MP:00053918.8EGFR, GFAP

Publications for Ring Chromosome 7

About this section

Articles related to Ring Chromosome 7:

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

Variations for Ring Chromosome 7

About this section

Expression for genes affiliated with Ring Chromosome 7

About this section
Expression patterns in normal tissues for genes affiliated with Ring Chromosome 7

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

Pathways for genes affiliated with Ring Chromosome 7

About this section

Compounds for genes affiliated with Ring Chromosome 7

About this section

Compounds related to Ring Chromosome 7 according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1bcnu449.4EGFR, GFAP
2tetracycline44 1110.4EGFR, GFAP
3agar449.4EGFR, GFAP
4paclitaxel44 50 1111.4GFAP, EGFR
5pd 98,059449.4EGFR, GFAP
6paraffin449.3EGFR, GFAP
7genistein44 28 61 2 24 1114.3EGFR, GFAP
8cisplatin44 50 61 1112.3GFAP, EGFR
9cycloheximide449.2EGFR, GFAP
10progesterone44 28 61 24 1113.2EGFR, GFAP
11testosterone44 61 24 1112.1GFAP, EGFR
12retinoic acid44 2410.1EGFR, GFAP
13vegf449.0EGFR, GFAP
14estrogen448.8EGFR, GFAP

GO Terms for genes affiliated with Ring Chromosome 7

About this section

Cellular components related to Ring Chromosome 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:0160209.1EGFR, GFAP

Molecular functions related to Ring Chromosome 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:0051789.1EGFR, GFAP

Products for genes affiliated with Ring Chromosome 7

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Ring Chromosome 7

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet