R13
MCID: RNG008
MIFTS: 31

Ring Chromosome 13 (R13)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 13

Summaries for Ring Chromosome 13

NIH Rare Diseases : 52 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 ring chromosome and microcephaly. Affiliated tissues include testes, skin and skeletal muscle, and related phenotypes are abnormal facial shape and microcephaly

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 all 45)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 10.7
2 microcephaly 10.2
3 breast cancer 10.2
4 suppressor of tumorigenicity 3 10.2
5 dentinogenesis imperfecta type 2 10.2
6 stenotrophomonas maltophilia infection 10.2
7 retinoblastoma 10.2
8 familial retinoblastoma 10.2
9 anencephaly 10.1
10 coloboma of macula 10.0
11 hypertelorism 10.0
12 anus, imperforate 10.0
13 alacrima, achalasia, and mental retardation syndrome 10.0
14 pectus excavatum 9.8
15 dowling-degos disease 1 9.8
16 retinal detachment 9.8
17 neural tube defects 9.8
18 chromosome 2q35 duplication syndrome 9.8
19 aprosencephaly syndrome 9.8
20 autism 9.8
21 c syndrome 9.8
22 celiac disease 1 9.8
23 hydrocephalus, congenital, 1 9.8
24 pervasive developmental disorder 9.8
25 keratoconus 9.8
26 hypospadias 9.8
27 leukocoria 9.8
28 clubfoot 9.8
29 goiter 9.8
30 nodular goiter 9.8
31 hypothyroidism 9.8
32 holoprosencephaly 9.8
33 bilateral retinoblastoma 9.8
34 cataract 9.8
35 alopecia 9.8
36 47,xyy 9.8
37 chromosomal triplication 9.8
38 chromosome 13q duplication 9.8
39 penoscrotal transposition 9.8
40 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8
41 nondisjunction 9.7
42 patau syndrome 9.7
43 leiomyosarcoma 9.7
44 embryonal rhabdomyosarcoma 9.7
45 rhabdomyosarcoma 9.7

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



Diseases related to Ring Chromosome 13

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 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
7 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
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 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
12 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
13 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
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 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
17 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
18 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
21 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
22 abnormal renal physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012211
23 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
24 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
25 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
26 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
27 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
28 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
29 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
30 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
31 anencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002323
32 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
33 urogenital sinus anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100779
34 abnormality of the incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000676
35 partial absence of foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0030032
36 absent foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0011301
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%)

Drugs & Therapeutics for Ring Chromosome 13

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 13

Genetic Tests for Ring Chromosome 13

Genetic tests related to Ring Chromosome 13:

# Genetic test Affiliating Genes
1 Chromosome 13, Ring 29

Anatomical Context for Ring Chromosome 13

MalaCards organs/tissues related to Ring Chromosome 13:

40
Testes, Skin, Skeletal Muscle, Bone, Heart, Kidney, Thyroid

Publications for Ring Chromosome 13

Articles related to Ring Chromosome 13:

(show top 50) (show all 184)
# Title Authors PMID Year
1
Cromosoma 13 en anillo. 61
30907385 2019
2
[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
30512167 2018
3
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13. 61
30500678 2018
4
[Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case]. 61
29972124 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
Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case. 61
29237938 2017
7
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. 61
29518772 2017
8
Ingestion of Wheat Protein Increases In Vivo Muscle Protein Synthesis Rates in Healthy Older Men in a Randomized Trial. 61
27440260 2016
9
Short inter-set rest blunts resistance exercise-induced increases in myofibrillar protein synthesis and intracellular signalling in young males. 61
27126459 2016
10
Determination of selected parabens, benzophenones, triclosan and triclocarban in agricultural soils after and before treatment with compost from sewage sludge: A lixiviation study. 61
26838425 2016
11
Fish oil supplementation suppresses resistance exercise and feeding-induced increases in anabolic signaling without affecting myofibrillar protein synthesis in young men. 61
27009278 2016
12
Dermatoglyphics in kidney diseases: a review. 61
27066327 2016
13
Consumption of Milk Protein or Whey Protein Results in a Similar Increase in Muscle Protein Synthesis in Middle Aged Men. 61
26506377 2015
14
Rapamycin does not prevent increases in myofibrillar or mitochondrial protein synthesis following endurance exercise. 61
26227152 2015
15
Speciation of atmospheric polycyclic aromatic hydrocarbons (PAHs) present during fog time collected submicron particles. 61
25903173 2015
16
Internal comparison between deuterium oxide (D2O) and L-[ring-13C6] phenylalanine for acute measurement of muscle protein synthesis in humans. 61
26149278 2015
17
Amino Acid Availability Regulates the Effect of Hyperinsulinemia on Skin Protein Metabolism in Pigs. 61
26032410 2015
18
Citrulline stimulates muscle protein synthesis in the post-absorptive state in healthy people fed a low-protein diet - A pilot study. 61
24972455 2015
19
Hypoenergetic diet-induced reductions in myofibrillar protein synthesis are restored with resistance training and balanced daily protein ingestion in older men. 61
25738784 2015
20
Application of high-resolution mass spectrometry to measure low abundance isotope enrichment in individual muscle proteins. 61
25832482 2015
21
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. 61
25867311 2015
22
Whey protein supplementation preserves postprandial myofibrillar protein synthesis during short-term energy restriction in overweight and obese adults. 61
25644344 2015
23
Protein ingestion to stimulate myofibrillar protein synthesis requires greater relative protein intakes in healthy older versus younger men. 61
25056502 2015
24
High insulin combined with essential amino acids stimulates skeletal muscle mitochondrial protein synthesis while decreasing insulin sensitivity in healthy humans. 61
25222757 2014
25
Leucine-enriched amino acid ingestion after resistance exercise prolongs myofibrillar protein synthesis and amino acid transporter expression in older men. 61
25332468 2014
26
A multiclass method for the analysis of endocrine disrupting chemicals in human urine samples. Sample treatment by dispersive liquid-liquid microextraction. 61
25127586 2014
27
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. 61
24975584 2014
28
Determination of human muscle protein fractional synthesis rate: an evaluation of different mass spectrometry techniques and considerations for tracer choice. 61
25044894 2014
29
Citrulline does not enhance blood flow, microvascular circulation, or myofibrillar protein synthesis in elderly men at rest or following exercise. 61
24824653 2014
30
UHPLC-MS/MS method for the determination of bisphenol A and its chlorinated derivatives, bisphenol S, parabens, and benzophenones in human urine samples. 61
24710638 2014
31
Dietary protein distribution positively influences 24-h muscle protein synthesis in healthy adults. 61
24477298 2014
32
Influence of aerobic exercise intensity on myofibrillar and mitochondrial protein synthesis in young men during early and late postexercise recovery. 61
24595306 2014
33
Synthesis of 13C and 15N labeled 2,4-dinitroanisole. 61
24596018 2014
34
SAR study on arylmethyloxyphenyl scaffold: looking for a P-gp nanomolar affinity. 61
24607999 2014
35
Quantitative amino acid profiling and stable isotopically labeled amino acid tracer enrichment used for in vivo human systemic and tissue kinetics measurements. 61
24513911 2014
36
Increased net muscle protein balance in response to simultaneous and separate ingestion of carbohydrate and essential amino acids following resistance exercise. 61
24552374 2014
37
Leucine supplementation of a low-protein mixed macronutrient beverage enhances myofibrillar protein synthesis in young men: a double-blind, randomized trial. 61
24284442 2014
38
A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. 61
25171325 2014
39
Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results. 61
25377780 2014
40
Ring chromosome 13 and ambiguous genitalia. 61
24932608 2014
41
Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13. 61
23933417 2013
42
¹H and ¹³C chemical shift assignment of the monomers that comprise carboxymethyl cellulose. 61
23911461 2013
43
A new treatment by dispersive liquid-liquid microextraction for the determination of parabens in human serum samples. 61
23857141 2013
44
Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. 61
27625853 2013
45
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
23868707 2013
46
Biosynthesis of benzylisoquinoline alkaloids in Corydalis bracteata: compartmentation and seasonal dynamics. 61
23664175 2013
47
¹³C tracer reveals phenolic acids biosynthesis in hairy root cultures of Salvia miltiorrhiza. 61
23614461 2013
48
Chemical shift assignment of the complicated monomers comprising cellulose acetate by two-dimensional NMR spectroscopy. 61
23707362 2013
49
Two weeks of reduced activity decreases leg lean mass and induces "anabolic resistance" of myofibrillar protein synthesis in healthy elderly. 61
23589526 2013
50
Timing and distribution of protein ingestion during prolonged recovery from resistance exercise alters myofibrillar protein synthesis. 61
23459753 2013

Variations for Ring Chromosome 13

Expression for Ring Chromosome 13

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

Pathways for Ring Chromosome 13

GO Terms for Ring Chromosome 13

Sources for Ring Chromosome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....