R4
MCID: RNG020
MIFTS: 31

Ring Chromosome 4 (R4)

Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ring Chromosome 4

MalaCards integrated aliases for Ring Chromosome 4:

Name: Ring Chromosome 4 20 58
Ring Chromosome 4 Syndrome 58 70
Ring 4 20 58
Chromosome 4 Ring 20
Syndrome R(4) 58
R(4) Syndrome 58
R4 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537636
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 71 C0265407 C2931556
Orphanet 58 ORPHA1447
SNOMED-CT via HPO 68 299034005
UMLS 70 C0265407

Summaries for Ring Chromosome 4

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1447 Definition Ring 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.

MalaCards based summary : Ring Chromosome 4, also known as ring chromosome 4 syndrome, is related to ring chromosome and dermatofibrosarcoma protuberans. 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 eye, heart and bone marrow, and related phenotypes are split hand and aplasia/hypoplasia of the radius

Related Diseases for Ring Chromosome 4

Diseases in the Ring Chromosome family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9
Ring Chromosome Y Syndrome

Diseases related to Ring Chromosome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 30.5 PDGFB COL1A1
2 dermatofibrosarcoma protuberans 29.3 PDGFB COL1A1
3 microcephaly 10.3
4 wolf-hirschhorn syndrome 10.3
5 patent ductus arteriosus 1 10.0
6 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
7 coloboma of macula 9.9
8 hypertelorism 9.9
9 split-hand/foot malformation 1 9.9
10 thumb deformity 9.9
11 renal hypodysplasia/aplasia 1 9.9
12 duodenal atresia 9.9
13 radial ray deficiency, x-linked 9.9
14 branchiootic syndrome 1 9.9
15 polydactyly 9.9
16 seckel syndrome 9.9
17 oligomeganephronia 9.9
18 hypospadias 9.9
19 clubfoot 9.9
20 oligospermia 9.9
21 hypothyroidism 9.9
22 ventricular septal defect 9.9
23 heart septal defect 9.9
24 epilepsy 9.9
25 atrial heart septal defect 9.9
26 chondroblastoma 9.9
27 cleft lip 9.9
28 dextrocardia 9.9
29 47,xyy 9.9
30 chromosomal triplication 9.9
31 coloboma of iris 9.9
32 cleft lip/palate 9.9
33 isolated split hand-split foot malformation 9.9
34 renal agenesis, bilateral 9.9
35 amelia 9.9
36 4p16.3 microduplication syndrome 9.9
37 overgrowth syndrome 9.9
38 bednar tumor 9.7 PDGFB COL1A1
39 cleft soft palate 9.7
40 complex chromosomal rearrangement 9.7
41 skin sarcoma 9.7 PDGFB COL1A1
42 cutaneous fibrous histiocytoma 9.7 PDGFB COL1A1
43 fibrosarcoma 9.6 PDGFB COL1A1
44 pulmonary fibrosis 9.6 PDGFB COL1A1
45 pulmonary fibrosis, idiopathic 9.5 PDGFB COL1A1

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
2 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
3 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
4 abnormality of the upper limb 58 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

Search Clinical Trials , 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:

40
Eye, Heart, Bone Marrow, Skin

Publications for Ring Chromosome 4

Articles related to Ring Chromosome 4:

(show all 44)
# Title Authors PMID Year
1
[Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome]. 61
32761591 2020
2
Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. 61
32399795 2020
3
Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review. 61
32293439 2019
4
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. 61
30428788 2018
5
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 61
29492108 2018
6
Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature. 61
28127864 2017
7
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. 61
27610251 2016
8
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. 61
25057292 2014
9
Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4. 61
24455347 2013
10
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. 61
21791306 2011
11
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay. 61
22029176 2011
12
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy. 61
19921639 2009
13
[A case of mosaic ring chromosome 4 with subtelomeric 4p deletion]. 61
19262083 2009
14
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. 61
17696124 2007
15
Prenatal diagnosis of mosaic ring chromosome 4. 61
17471607 2007
16
Karyotypic identification of abnormal clones preceding morphological changes or occurring with no definite morphological features of myelodysplastic syndrome: a preliminary study. 61
17353178 2007
17
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. 61
16470698 2006
18
Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. 61
16719275 2006
19
Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay. 61
16082703 2005
20
Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. 61
16103661 2005
21
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. 61
12011164 2002
22
Clonal variation in the B-lineage acute lymphoblastic leukemia response to multiple cytokines and bone marrow stromal cells. 61
11431369 2001
23
A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. 61
10422016 1999
24
COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. 61
9790508 1998
25
Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature. 61
9723025 1998
26
Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. 61
9332654 1997
27
Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. 61
8933346 1996
28
Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4. 61
7485165 1995
29
Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33). 61
7778597 1995
30
Ring chromosome 4 in a child with mild dysmorphic signs. 61
2015696 1991
31
Ring chromosome 4 in a child with duodenal atresia. 61
2240048 1990
32
[The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital]. 61
2677233 1989
33
Ring chromosome 4 mosaicism and Potter sequence. 61
3261147 1988
34
Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure? 61
3674110 1987
35
[Ring chromosome 4 in twins]. 61
3671134 1987
36
Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy. 61
4046483 1985
37
Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. 61
4041283 1985
38
Severe limb malformations in 4p deletion. 61
6713712 1984
39
Neurological and neuropathological findings in ring chromosome 4. 61
7205435 1980
40
Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome. 61
711237 1978
41
Ring chromosome 4. 61
881718 1977
42
Ring chromosome 4 and Wolf syndrome. 61
881198 1977
43
Sister chromatid exchanges in a ring chromosome 4. 61
872629 1977
44
Derivative chromosomal structures from a ring chromsome 4. 61
1150264 1975

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 PDGFB COL1A1
2
Show member pathways
12.16 PDGFB COL1A1
3
Show member pathways
12.03 PDGFB COL1A1
4
Show member pathways
11.61 PDGFB COL1A1
5 10.06 PDGFB COL1A1
6 9.77 PDGFB COL1A1

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 collagen-containing extracellular matrix GO:0062023 8.96 PDGFB COL1A1
2 endoplasmic reticulum lumen GO:0005788 8.62 PDGFB COL1A1

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 PDGFB COL1A1
2 extracellular matrix organization GO:0030198 8.96 PDGFB COL1A1
3 positive regulation of cell migration GO:0030335 8.62 PDGFB COL1A1

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 PDGFB COL1A1

Sources for Ring Chromosome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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