MCID: RNG020
MIFTS: 33

Ring Chromosome 4

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 4

MalaCards integrated aliases for Ring Chromosome 4:

Name: Ring Chromosome 4 54 60
Ring Chromosome 4 Syndrome 60 74
Ring 4 54 60
Chromosome 4 Ring 54
Syndrome R(4) 60
R(4) Syndrome 60
R4 54

Classifications:



External Ids:

MESH via Orphanet 46 C537636
ICD10 via Orphanet 35 Q93.2
UMLS via Orphanet 75 C0265407 C2931556
Orphanet 60 ORPHA1447
SNOMED-CT via HPO 70 299034005
UMLS 74 C0265407

Summaries for Ring Chromosome 4

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1447Disease definitionRing chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 4, also known as ring chromosome 4 syndrome, is related to dermatofibrosarcoma protuberans and pancreatic ductal adenocarcinoma. 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 skin, and related phenotypes are split hand and aplasia/hypoplasia of the radius

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
2 aplasia/hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0006501
3 abnormality of the ulna 60 33 occasional (7.5%) Occasional (29-5%) HP:0002997
4 abnormality of the upper limb 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Ring Chromosome 4:

47
# 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:

42
Heart, Skin

Publications for Ring Chromosome 4

Articles related to Ring Chromosome 4:

(show all 29)
# Title Authors Year
1
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. ( 30428788 )
2018
2
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
3
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. ( 27610251 )
2016
4
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. ( 25057292 )
2014
5
Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4. ( 24455347 )
2013
6
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. ( 21791306 )
2011
7
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay. ( 22029176 )
2011
8
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy. ( 19921639 )
2009
9
Prenatal diagnosis of mosaic ring chromosome 4. ( 17471607 )
2007
10
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. ( 16470698 )
2006
11
Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. ( 16719275 )
2006
12
Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay. ( 16082703 )
2005
13
Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. ( 16103661 )
2005
14
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. ( 12011164 )
2002
15
A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. ( 10422016 )
1999
16
Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature. ( 9723025 )
1998
17
COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. ( 9790508 )
1998
18
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. ( 9332654 )
1997
19
Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. ( 8933346 )
1996
20
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
21
Ring chromosome 4 in a child with mild dysmorphic signs. ( 2015696 )
1991
22
Ring chromosome 4 in a child with duodenal atresia. ( 2240048 )
1990
23
Ring chromosome 4 mosaicism and Potter sequence. ( 3261147 )
1988
24
Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. ( 4041283 )
1985
25
Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy. ( 4046483 )
1985
26
Neurological and neuropathological findings in ring chromosome 4. ( 7205435 )
1980
27
Sister chromatid exchanges in a ring chromosome 4. ( 872629 )
1977
28
Ring chromosome 4 and Wolf syndrome. ( 881198 )
1977
29
Ring chromosome 4. ( 881718 )
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
12.26 COL1A1 PDGFB
2
Show member pathways
12.16 COL1A1 PDGFB
3
Show member pathways
12.02 COL1A1 PDGFB
4
Show member pathways
11.61 COL1A1 PDGFB
5 10.06 COL1A1 PDGFB
6 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 collagen-containing extracellular matrix GO:0062023 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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