MCID: RNG020
MIFTS: 32

Ring Chromosome 4

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 4

MalaCards integrated aliases for Ring Chromosome 4:

Name: Ring Chromosome 4 53 59
Ring Chromosome 4 Syndrome 59 73
Ring 4 53 59
Chromosome 4 Ring 53
Syndrome R(4) 59
R(4) Syndrome 59
R4 53

Classifications:



External Ids:

Orphanet 59 ORPHA1447
UMLS via Orphanet 74 C0265407 C2931556
MESH via Orphanet 45 C537636
ICD10 via Orphanet 34 Q93.2
SNOMED-CT via HPO 69 299034005
UMLS 73 C0265407

Summaries for Ring Chromosome 4

MalaCards based summary : Ring Chromosome 4, also known as ring chromosome 4 syndrome, is related to dermatofibrosarcoma protuberans and chromosome 4p deletion. An important gene associated with Ring Chromosome 4 is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include heart, and related phenotypes are split hand and abnormality of the ulna

Related Diseases for Ring Chromosome 4

Graphical network of the top 20 diseases related to Ring Chromosome 4:



Diseases related to Ring Chromosome 4

Symptoms & Phenotypes for Ring Chromosome 4

Human phenotypes related to Ring Chromosome 4:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
2 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
3 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
4 abnormality of the upper limb 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Ring Chromosome 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 COL1A1 PDGFB

Drugs & Therapeutics for Ring Chromosome 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Safety Extension Study of DR-OXY-301 Completed NCT00782769 Phase 3 Oxybutinyn Vaginal Ring 4mg;Oxybutinyn Vaginal Ring 6mg

Search NIH Clinical Center for Ring Chromosome 4

Genetic Tests for Ring Chromosome 4

Anatomical Context for Ring Chromosome 4

MalaCards organs/tissues related to Ring Chromosome 4:

41
Heart

Publications for Ring Chromosome 4

Articles related to Ring Chromosome 4:

(show all 28)
# Title Authors Year
1
Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature. ( 28127864 )
2017
2
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. ( 27610251 )
2016
3
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. ( 25057292 )
2014
4
Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4. ( 24455347 )
2013
5
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. ( 21791306 )
2011
6
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay. ( 22029176 )
2011
7
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy. ( 19921639 )
2009
8
Prenatal diagnosis of mosaic ring chromosome 4. ( 17471607 )
2007
9
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. ( 16470698 )
2006
10
Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. ( 16719275 )
2006
11
Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. ( 16103661 )
2005
12
Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay. ( 16082703 )
2005
13
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. ( 12011164 )
2002
14
A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. ( 10422016 )
1999
15
COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. ( 9790508 )
1998
16
Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature. ( 9723025 )
1998
17
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. ( 9332654 )
1997
18
Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. ( 8933346 )
1996
19
Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33). ( 7778597 )
1995
20
Ring chromosome 4 in a child with mild dysmorphic signs. ( 2015696 )
1991
21
Ring chromosome 4 in a child with duodenal atresia. ( 2240048 )
1990
22
Ring chromosome 4 mosaicism and Potter sequence. ( 3261147 )
1988
23
Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. ( 4041283 )
1985
24
Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy. ( 4046483 )
1985
25
Neurological and neuropathological findings in ring chromosome 4. ( 7205435 )
1980
26
Ring chromosome 4. ( 881718 )
1977
27
Sister chromatid exchanges in a ring chromosome 4. ( 872629 )
1977
28
Ring chromosome 4 and Wolf syndrome. ( 881198 )
1977

Variations for Ring Chromosome 4

Expression for Ring Chromosome 4

Search GEO for disease gene expression data for Ring Chromosome 4.

Pathways for Ring Chromosome 4

Pathways related to Ring Chromosome 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 COL1A1 PDGFB
2
Show member pathways
12.08 COL1A1 PDGFB
3
Show member pathways
11.92 COL1A1 PDGFB
4
Show member pathways
11.61 COL1A1 PDGFB
5 9.77 COL1A1 PDGFB

GO Terms for Ring Chromosome 4

Cellular components related to Ring Chromosome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 COL1A1 PDGFB
2 extracellular matrix GO:0031012 8.62 COL1A1 PDGFB

Biological processes related to Ring Chromosome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.16 COL1A1 PDGFB
2 positive regulation of cell migration GO:0030335 8.96 COL1A1 PDGFB
3 extracellular matrix organization GO:0030198 8.62 COL1A1 PDGFB

Molecular functions related to Ring Chromosome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 PDGFB

Sources for Ring Chromosome 4

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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