Ring Chromosome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Immune diseases Reproductive diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Chromosome replaced with ring or dicentric

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

Sources

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

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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:

Sources

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

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Drugs & Therapeutics for Ring Chromosome 4

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 4

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Genetic Tests for Ring Chromosome 4

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Anatomical Context for Ring Chromosome 4

MalaCards organs/tissues related to Ring Chromosome 4:

⁴⁰

Eye, Heart, Bone Marrow, Skin

Sources

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	Lyu Y...Gai Z	32761591	2020
2	Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. ⁶¹	Slimani W...Mougou-Zerelli S	32399795	2020
3	Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review. ⁶¹	Paz-Y-Mino C...Leone PE	32293439	2019
4	A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. ⁶¹	Kishi Y...Ikeda H	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	Hu Q...Li P	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	Burgemeister AL...Zirn B	28127864	2017
7	Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. ⁶¹	Paththinige CS...Dissanayake VH	27610251	2016
8	Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4. ⁶¹	Yao Q...Cui Y	25057292	2014
9	Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4. ⁶¹	Akbas H...Fidanboy M	24455347	2013
10	Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. ⁶¹	Chen CP...Wang W	21791306	2011
11	Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay. ⁶¹	Chen CP...Wang W	22029176	2011
12	Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy. ⁶¹	Soysal Y...Imirzalioglu N	19921639	2009
13	[A case of mosaic ring chromosome 4 with subtelomeric 4p deletion]. ⁶¹	Kim JH...Cho HC	19262083	2009
14	Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. ⁶¹	South ST...Carey JC	17696124	2007
15	Prenatal diagnosis of mosaic ring chromosome 4. ⁶¹	Chen CP...Wang W	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	Han JY...Theil KS	17353178	2007
17	Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. ⁶¹	Balci S...Liehr T	16470698	2006
18	Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. ⁶¹	Laleye A...Darboux RB	16719275	2006
19	Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay. ⁶¹	Blackett PR...Mulvihill JJ	16082703	2005
20	Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. ⁶¹	Lee MH...Ryu HM	16103661	2005
21	Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. ⁶¹	Kocks A...Winterpacht A	12011164	2002
22	Clonal variation in the B-lineage acute lymphoblastic leukemia response to multiple cytokines and bone marrow stromal cells. ⁶¹	Shah N...LeBien TW	11431369	2001
23	A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. ⁶¹	Vermeesch JR...Fryns JP	10422016	1999
24	COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. ⁶¹	Navarro M...Pedeutour F	9790508	1998
25	Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature. ⁶¹	van Zelderen-Bhola SL...Hogendoorn PC	9723025	1998
26	Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome. ⁶¹	Anderson CE...Jackson LG	9332654	1997
27	Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. ⁶¹	Hou JW...Wang TR	8933346	1996
28	Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4. ⁶¹	Fang YY...Callen DF	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	Lurie IW	7778597	1995
30	Ring chromosome 4 in a child with mild dysmorphic signs. ⁶¹	Freyberger G...Schmid M	2015696	1991
31	Ring chromosome 4 in a child with duodenal atresia. ⁶¹	Halal F...Vekemans M	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	Chuang SM...Lee FY	2677233	1989
33	Ring chromosome 4 mosaicism and Potter sequence. ⁶¹	Fryns JP...Van den Berghe H	3261147	1988
34	Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure? ⁶¹	Kosztolanyi G	3674110	1987
35	[Ring chromosome 4 in twins]. ⁶¹	Giuffre L...Balsamo V	3671134	1987
36	Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy. ⁶¹	Gutkowska A...Wisniewski L	4046483	1985
37	Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. ⁶¹	Kosztolanyi G	4041283	1985
38	Severe limb malformations in 4p deletion. ⁶¹	Haspeslagh M...Moerman P	6713712	1984
39	Neurological and neuropathological findings in ring chromosome 4. ⁶¹	Young RS...Zalneraitis EL	7205435	1980
40	Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome. ⁶¹	del Mazo J...Martin MJ	711237	1978
41	Ring chromosome 4. ⁶¹	McDermott A...Romain D	881718	1977
42	Ring chromosome 4 and Wolf syndrome. ⁶¹	Perez-Castillo A...Abrisqueta JA	881198	1977
43	Sister chromatid exchanges in a ring chromosome 4. ⁶¹	Bartram CR	872629	1977
44	Derivative chromosomal structures from a ring chromsome 4. ⁶¹	Niss R...Passarge E	1150264	1975

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Genes for Ring Chromosome 4

Genes related to Ring Chromosome 4 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	6.31	GeneCards inferred via : Publications (show sections)
2	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	6.31	GeneCards inferred via : Publications (show sections)

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Variations for Ring Chromosome 4

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Expression for Ring Chromosome 4

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

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Pathways for Ring Chromosome 4

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

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.26	PDGFB COL1A1
2	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.16	PDGFB COL1A1
3	Focal Adhesion ³⁶ ¹ Show member pathways HGF Pathway ⁶³ Integrin-mediated Cell Adhesion ¹	12.03	PDGFB COL1A1
4	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.61	PDGFB COL1A1
5	G-protein signaling_Rap2B regulation pathway ²³	10.06	PDGFB COL1A1
6	Osteoblast Signaling ¹	9.77	PDGFB COL1A1

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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

Sources for Ring Chromosome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Ring Chromosome 4 (R4)

Aliases & Classifications for Ring Chromosome 4

MalaCards integrated aliases for Ring Chromosome 4:

Classifications:

External Ids:

Summaries for Ring Chromosome 4

Related Diseases for Ring Chromosome 4

Diseases in the Ring Chromosome family:

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

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

Symptoms & Phenotypes for Ring Chromosome 4

Human phenotypes related to Ring Chromosome 4:

MGI Mouse Phenotypes related to Ring Chromosome 4:

Drugs & Therapeutics for Ring Chromosome 4

Genetic Tests for Ring Chromosome 4

Anatomical Context for Ring Chromosome 4

MalaCards organs/tissues related to Ring Chromosome 4:

Publications for Ring Chromosome 4

Articles related to Ring Chromosome 4:

Genes for Ring Chromosome 4

Genes related to Ring Chromosome 4 (0 elite genes):

Variations for Ring Chromosome 4

Expression for Ring Chromosome 4

Pathways for Ring Chromosome 4

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

GO Terms for Ring Chromosome 4

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

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

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

Sources for Ring Chromosome 4