Ring Chromosome 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

R13 MCID: RNG008 MIFTS: 31	Ring Chromosome 13 (R13) Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ring Chromosome 13

MalaCards integrated aliases for Ring Chromosome 13:

Name: Ring Chromosome 13 ²⁰ ⁵⁸ ²⁹

Chromosome 13 Ring ²⁰ ⁷⁰

Ring 13 ²⁰ ⁵⁸

Ring Chromosome 13 Syndrome ⁵⁸

R13 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 C538303

ICD10 via Orphanet ³³ Q93.2

UMLS via Orphanet ⁷¹ C2931808

Orphanet ⁵⁸ ORPHA96176

UMLS ⁷⁰ C2931808

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Summaries for Ring Chromosome 13

GARD : ²⁰ Ring chromosome 13 is a rare chromosome abnormality in which the ends of chromosome 13 join together to form a ring shape. When a ring forms, there may be missing genes where the chromosome's ends fuse together. Therefore, the severity and symptoms associated with ring chromosome 13 vary from person to person, depending on the number of genes, and specific genes, involved. Most people with ring chromosome 13 also have cells with 46 normal chromosomes (this is called mosaicism), which can lessen the effect of the ring chromosome on growth and development. Signs and symptoms that may be present in a person with ring chromosome 13 include developmental delay, slow growth and short stature, feeding difficulties, learning difficulties, a small head size, abnormal formation or positioning of the feet and/or toes, and/or abnormalities of the palate (roof off the mouth). Depending on how many genes are lost and how many normal cells a person has, additional features or birth defects may also be present. Ring chromosome 13 typically is not inherited, occurring sporadically during the formation of egg or sperm cells or shortly after the egg and sperm join together. In some cases, ring chromosome 13 is inherited from a parent. Chromosome testing of parents can help determine whether the ring chromosome was inherited and whether future children have an increased chance to have a chromosome abnormality. Treatment for ring chromosome 13 depends on the signs and symptoms present in each person.

MalaCards based summary : Ring Chromosome 13, also known as chromosome 13 ring, is related to muscular dystrophy-dystroglycanopathy , type c, 4 and ring chromosome. Affiliated tissues include eye, skeletal muscle and testis, and related phenotypes are abnormal facial shape and microcephaly

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Related Diseases for Ring Chromosome 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Related Disease	Score
1	muscular dystrophy-dystroglycanopathy , type c, 4	11.3
2	ring chromosome	10.7
3	microcephaly	10.3
4	retinoblastoma	10.2
5	anencephaly	10.1
6	alacrima, achalasia, and mental retardation syndrome	10.1
7	coloboma of macula	10.0
8	hypertelorism	10.0
9	anus, imperforate	10.0
10	suppressor of tumorigenicity 3	9.9
11	dentinogenesis imperfecta type 2	9.9
12	stenotrophomonas maltophilia infection	9.9
13	pectus excavatum	9.9
14	dowling-degos disease 1	9.9
15	retinal detachment	9.9
16	neural tube defects	9.9
17	chromosome 2q35 duplication syndrome	9.9
18	aprosencephaly syndrome	9.9
19	autism	9.9
20	celiac disease 1	9.9
21	corpus callosum, agenesis of	9.9
22	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	9.9
23	pervasive developmental disorder	9.9
24	keratoconus	9.9
25	hypospadias	9.9
26	leukocoria	9.9
27	clubfoot	9.9
28	goiter	9.9
29	nodular goiter	9.9
30	hypothyroidism	9.9
31	holoprosencephaly	9.9
32	bilateral retinoblastoma	9.9
33	cataract	9.9
34	alopecia	9.9
35	47,xyy	9.9
36	chromosomal triplication	9.9
37	chromosome 13q duplication	9.9
38	penoscrotal transposition	9.9
39	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	9.9
40	ear malformation	9.7
41	nondisjunction	9.7
42	silver-russell syndrome 1	9.7
43	telecanthus	9.7
44	torticollis	9.7
45	branchiootic syndrome 1	9.7
46	scoliosis	9.7
47	patau syndrome	9.7
48	leiomyosarcoma	9.7
49	embryonal rhabdomyosarcoma	9.7
50	rhabdomyosarcoma	9.7

Graphical network of the top 20 diseases related to Ring Chromosome 13:

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Symptoms & Phenotypes for Ring Chromosome 13

Human phenotypes related to Ring Chromosome 13:

⁵⁸ ³¹ (show all 42)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal facial shape ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001999
2	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
3	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
4	growth delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001510
5	skeletal dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002652
6	depressed nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005280
7	hypertelorism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000316
8	macrotia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000400
9	wide nasal bridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000431
10	anteverted nares ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000463
11	micropenis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000054
12	bifid scrotum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000048
13	hypospadias ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000047
14	ambiguous genitalia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000062
15	primary hypothyroidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000832
16	frontal bossing ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002007
17	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
18	short neck ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000470
19	autism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000717
20	micrognathia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000347
21	epicanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000286
22	alopecia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001596
23	anal atresia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002023
24	short philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000322
25	abnormality of skin pigmentation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001000
26	aplasia/hypoplasia of the thumb ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009601
27	anencephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002323
28	trigonocephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000243
29	urogenital sinus anomaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100779
30	posteriorly rotated ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000358
31	cafe-au-lait spot ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000957
32	generalized hypotonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001290
33	absent foot ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011301
34	abnormal renal physiology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012211
35	abnormality of the incisor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000676
36	partial absence of foot ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030032
37	agenesis of corpus callosum ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001274
38	retinoblastoma ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0009919
39	abnormality of the coagulation cascade ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003256
40	hypoplasia of the gallbladder ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0005233
41	abnormal retinal morphology ⁵⁸		Very rare (<4-1%)
42	aplasia/hypoplasia involving bones of the hand ⁵⁸		Frequent (79-30%)

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Drugs & Therapeutics for Ring Chromosome 13

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 13

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Genetic Tests for Ring Chromosome 13

Genetic tests related to Ring Chromosome 13:

#	Genetic test	Affiliating Genes
1	Ring Chromosome 13 ²⁹

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Anatomical Context for Ring Chromosome 13

MalaCards organs/tissues related to Ring Chromosome 13:

⁴⁰

Eye, Skeletal Muscle, Testis, Thyroid

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Publications for Ring Chromosome 13

Articles related to Ring Chromosome 13:

(show top 50) (show all 189)

#	Title	Authors	PMID	Year
1	Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. ⁶¹	Chanes B...Lacassie Y	33438813	2021
2	Injury and treatment patterns of ballistic pelvic fractures by anatomic location. ⁶¹	Erdman MK...Marecek GS	32720105	2021
3	Predicting plant cuticle-water partition coefficients for organic pollutants using pp-LFER model. ⁶¹	Qi X...Zhu H	32315909	2020
4	Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. ⁶¹	Chen CP...Wang W	32039781	2020
5	Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. ⁶¹	Petter C...Riegel M	31976095	2019
6	Cromosoma 13 en anillo. ⁶¹	Cammarata-Scalisi F...Montilla D	30907385	2019
7	[Genetic analysis of a patient with premature ovarian failure and a 45,XX,-13/46,XX,r(13)(p13q34)/46,XX,r(13;13) karyotype]. ⁶¹	Yin T...Wang L	30512167	2018
8	Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13. ⁶¹	Nikitina TV...Lebedev IN	30500678	2018
9	[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. ⁶¹	Fan MR...Yu XY	29972124	2018
10	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
11	Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case. ⁶¹	Zhao XR...Hu WJ	29237938	2017
12	Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. ⁶¹	Cakmakli S...Bozkaya OG	29518772	2017
13	Ingestion of Wheat Protein Increases In Vivo Muscle Protein Synthesis Rates in Healthy Older Men in a Randomized Trial. ⁶¹	Gorissen SH...van Loon LJ	27440260	2016
14	Short inter-set rest blunts resistance exercise-induced increases in myofibrillar protein synthesis and intracellular signalling in young males. ⁶¹	McKendry J...Breen L	27126459	2016
15	Determination of selected parabens, benzophenones, triclosan and triclocarban in agricultural soils after and before treatment with compost from sewage sludge: A lixiviation study. ⁶¹	Camino-Sanchez FJ...Vilchez JL	26838425	2016
16	Fish oil supplementation suppresses resistance exercise and feeding-induced increases in anabolic signaling without affecting myofibrillar protein synthesis in young men. ⁶¹	McGlory C...Tipton KD	27009278	2016
17	Dermatoglyphics in kidney diseases: a review. ⁶¹	Wijerathne BT...Agampodi SB	27066327	2016
18	Consumption of Milk Protein or Whey Protein Results in a Similar Increase in Muscle Protein Synthesis in Middle Aged Men. ⁶¹	Mitchell CJ...Cameron-Smith D	26506377	2015
19	Rapamycin does not prevent increases in myofibrillar or mitochondrial protein synthesis following endurance exercise. ⁶¹	Philp A...Baar K	26227152	2015
20	Speciation of atmospheric polycyclic aromatic hydrocarbons (PAHs) present during fog time collected submicron particles. ⁶¹	Singh DK...Gupta T	25903173	2015
21	Internal comparison between deuterium oxide (D2O) and L-[ring-13C6] phenylalanine for acute measurement of muscle protein synthesis in humans. ⁶¹	Wilkinson DJ...Smith K	26149278	2015
22	Amino Acid Availability Regulates the Effect of Hyperinsulinemia on Skin Protein Metabolism in Pigs. ⁶¹	Tuvdendorj D...Wolfe RR	26032410	2015
23	Citrulline stimulates muscle protein synthesis in the post-absorptive state in healthy people fed a low-protein diet - A pilot study. ⁶¹	Jourdan M...Cynober L	24972455	2015
24	Hypoenergetic diet-induced reductions in myofibrillar protein synthesis are restored with resistance training and balanced daily protein ingestion in older men. ⁶¹	Murphy CH...Phillips SM	25738784	2015
25	Application of high-resolution mass spectrometry to measure low abundance isotope enrichment in individual muscle proteins. ⁶¹	Hines KM...Nair KS	25832482	2015
26	Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. ⁶¹	Minasi LB...da Cruz AD	25867311	2015
27	Whey protein supplementation preserves postprandial myofibrillar protein synthesis during short-term energy restriction in overweight and obese adults. ⁶¹	Hector AJ...Phillips SM	25644344	2015
28	Protein ingestion to stimulate myofibrillar protein synthesis requires greater relative protein intakes in healthy older versus younger men. ⁶¹	Moore DR...Phillips SM	25056502	2015
29	High insulin combined with essential amino acids stimulates skeletal muscle mitochondrial protein synthesis while decreasing insulin sensitivity in healthy humans. ⁶¹	Robinson MM...Nair KS	25222757	2014
30	Leucine-enriched amino acid ingestion after resistance exercise prolongs myofibrillar protein synthesis and amino acid transporter expression in older men. ⁶¹	Dickinson JM...Rasmussen BB	25332468	2014
31	A multiclass method for the analysis of endocrine disrupting chemicals in human urine samples. Sample treatment by dispersive liquid-liquid microextraction. ⁶¹	Vela-Soria F...Navalon A	25127586	2014
32	Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. ⁶¹	Quelin C...Guimiot F	24975584	2014
33	Determination of human muscle protein fractional synthesis rate: an evaluation of different mass spectrometry techniques and considerations for tracer choice. ⁶¹	Borno A...van Hall G	25044894	2014
34	Citrulline does not enhance blood flow, microvascular circulation, or myofibrillar protein synthesis in elderly men at rest or following exercise. ⁶¹	Churchward-Venne TA...Phillips SM	24824653	2014
35	UHPLC-MS/MS method for the determination of bisphenol A and its chlorinated derivatives, bisphenol S, parabens, and benzophenones in human urine samples. ⁶¹	Vela-Soria F...Navalon A	24710638	2014
36	Dietary protein distribution positively influences 24-h muscle protein synthesis in healthy adults. ⁶¹	Mamerow MM...Paddon-Jones D	24477298	2014
37	Influence of aerobic exercise intensity on myofibrillar and mitochondrial protein synthesis in young men during early and late postexercise recovery. ⁶¹	Di Donato DM...Phillips SM	24595306	2014
38	Synthesis of 13C and 15N labeled 2,4-dinitroanisole. ⁶¹	Jagadish B...Mash EA	24596018	2014
39	SAR study on arylmethyloxyphenyl scaffold: looking for a P-gp nanomolar affinity. ⁶¹	Nesi G...Rapposelli S	24607999	2014
40	Increased net muscle protein balance in response to simultaneous and separate ingestion of carbohydrate and essential amino acids following resistance exercise. ⁶¹	Witard OC...Tipton KD	24552374	2014
41	Quantitative amino acid profiling and stable isotopically labeled amino acid tracer enrichment used for in vivo human systemic and tissue kinetics measurements. ⁶¹	Borno A...van Hall G	24513911	2014
42	Leucine supplementation of a low-protein mixed macronutrient beverage enhances myofibrillar protein synthesis in young men: a double-blind, randomized trial. ⁶¹	Churchward-Venne TA...Phillips SM	24284442	2014
43	Ring chromosome 13 and ambiguous genitalia. ⁶¹	Ozsu E...Ipekci B	24932608	2014
44	A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. ⁶¹	Charalsawadi C...Limprasert P	25171325	2014
45	Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results. ⁶¹	Kaylor J...Zarate YA	25377780	2014
46	Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13. ⁶¹	Chen CP...Wang W	23933417	2013
47	A new treatment by dispersive liquid-liquid microextraction for the determination of parabens in human serum samples. ⁶¹	Vela-Soria F...Navalon A	23857141	2013
48	¹H and ¹³C chemical shift assignment of the monomers that comprise carboxymethyl cellulose. ⁶¹	Kono H	23911461	2013
49	Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. ⁶¹	Abdallah-Bouhjar IB...Elghezal H	27625853	2013
50	Ultra-performance liquid chromatography MS/MS method for the determination of parabens in compost from sewage sludge: comparison of the efficiency of two extraction techniques. ⁶¹	Benitez-Villalba JC...Vilchez JL	23868707	2013

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Genes for Ring Chromosome 13

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Variations for Ring Chromosome 13

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Expression for Ring Chromosome 13

Search GEO for disease gene expression data for Ring Chromosome 13.

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Pathways for Ring Chromosome 13

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GO Terms for Ring Chromosome 13

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Sources for Ring Chromosome 13

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Ring Chromosome 13 (R13)

Aliases & Classifications for Ring Chromosome 13

MalaCards integrated aliases for Ring Chromosome 13:

Classifications:

External Ids:

Summaries for Ring Chromosome 13

Related Diseases for Ring Chromosome 13

Diseases in the Ring Chromosome family:

Diseases related to Ring Chromosome 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ring Chromosome 13:

Symptoms & Phenotypes for Ring Chromosome 13

Human phenotypes related to Ring Chromosome 13:

Drugs & Therapeutics for Ring Chromosome 13

Genetic Tests for Ring Chromosome 13

Genetic tests related to Ring Chromosome 13:

Anatomical Context for Ring Chromosome 13

MalaCards organs/tissues related to Ring Chromosome 13:

Publications for Ring Chromosome 13

Articles related to Ring Chromosome 13:

Genes for Ring Chromosome 13

Variations for Ring Chromosome 13

Expression for Ring Chromosome 13

Pathways for Ring Chromosome 13

GO Terms for Ring Chromosome 13

Sources for Ring Chromosome 13