R7
MCID: RNG023
MIFTS: 36

Ring Chromosome 7 (R7) malady

Rare diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Ring Chromosome 7

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33MalaCards
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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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43NIH Rare Diseases, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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 43 49 62
chromosome 7 ring 43
ring 7 43
r7 43


External Ids:

MESH via Orphanet36 C537813
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet63 C0795818, C2931622

Related Diseases for Ring Chromosome 7

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

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Anatomical Context for Ring Chromosome 7

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33MalaCards
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MalaCards organs/tissues related to Ring Chromosome 7:

33
T cells, Heart, Skin

Animal Models for Ring Chromosome 7 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Ring Chromosome 7:

37
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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52PubMed
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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, 15Gene 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:
50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Ring Chromosome 7

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB, 24HMDB
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Compounds related to Ring Chromosome 7 according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1bcnu459.4EGFR, GFAP
2tetracycline45 1110.4EGFR, GFAP
3agar459.4EGFR, GFAP
4paclitaxel45 51 1111.4GFAP, EGFR
5pd 98,059459.4EGFR, GFAP
6paraffin459.3EGFR, GFAP
7genistein45 29 61 3 24 1114.3EGFR, GFAP
8cisplatin45 51 61 1112.3GFAP, EGFR
9cycloheximide459.2EGFR, GFAP
10progesterone45 29 61 24 1113.2EGFR, GFAP
11testosterone45 61 24 1112.1GFAP, EGFR
12retinoic acid45 2410.1EGFR, GFAP
13vegf459.0EGFR, GFAP
14estrogen458.8EGFR, GFAP

GO Terms for genes affiliated with Ring Chromosome 7

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet