R7
MCID: RNG023
MIFTS: 36

Ring Chromosome 7 (R7) malady

Rare diseases, Fetal diseases, Neuronal diseases categories

Summaries for Ring Chromosome 7

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34MalaCards
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MalaCards: Ring Chromosome 7, also known as chromosome 7 ring, is related to holoprosencephaly and melanoma. 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

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44NIH Rare Diseases, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

ring chromosome 7 44 50 63
chromosome 7 ring 44
ring 7 44
r7 44


External Ids:

MESH via Orphanet37 C537813
ICD10 via Orphanet27 Q93.2
UMLS via Orphanet64 C0795818, C2931622

Related Diseases for Ring Chromosome 7

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Ring Chromosome 7:



Diseases related to ring chromosome 7

Symptoms for Ring Chromosome 7

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Drugs & Therapeutics for Ring Chromosome 7

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 7

Search NIH Clinical Center for Ring Chromosome 7

Search CenterWatch for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

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Anatomical Context for Ring Chromosome 7

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34MalaCards
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MalaCards organs/tissues related to Ring Chromosome 7:

34
T cells, Heart, Skin

Animal Models for Ring Chromosome 7 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ring Chromosome 7:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EGFR, GFAP
2MP:00053819.0EGFR, GFAP
3MP:00053918.8EGFR, GFAP

Publications for Ring Chromosome 7

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53PubMed
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Articles related to Ring Chromosome 7:

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

Variations for Ring Chromosome 7

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Expression for genes affiliated with Ring Chromosome 7

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database
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Compounds for genes affiliated with Ring Chromosome 7

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46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience, 3BitterDB, 25HMDB
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Compounds related to Ring Chromosome 7 according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1bcnu469.4EGFR, GFAP
2tetracycline46 1210.4EGFR, GFAP
3agar469.4EGFR, GFAP
4paclitaxel46 52 1211.4GFAP, EGFR
5pd 98,059469.4EGFR, GFAP
6paraffin469.3EGFR, GFAP
7genistein46 30 62 3 25 1214.3EGFR, GFAP
8cisplatin46 52 62 1212.3GFAP, EGFR
9cycloheximide469.2EGFR, GFAP
10progesterone46 30 62 25 1213.2EGFR, GFAP
11testosterone46 62 25 1212.1GFAP, EGFR
12retinoic acid46 2510.1EGFR, GFAP
13vegf469.0EGFR, GFAP
14estrogen468.8EGFR, GFAP

GO Terms for genes affiliated with Ring Chromosome 7

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Chromosome 7

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet