MCID: RNG008
MIFTS: 37

Ring Chromosome 13

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 13

Summaries for Ring Chromosome 13

NIH Rare Diseases : 54 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 stenotrophomonas maltophilia infection and retinal detachment. The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and bone, and related phenotypes are abnormal facial shape and microcephaly

Related Diseases for Ring Chromosome 13

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:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
4 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
5 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
6 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
7 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
8 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
9 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
10 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
11 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
12 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
13 bifid scrotum 60 33 frequent (33%) Frequent (79-30%) HP:0000048
14 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
15 primary hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000832
16 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
17 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
18 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
19 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
20 abnormal renal physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012211
21 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
22 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
23 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
24 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
25 trigonocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000243
26 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
27 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
28 anencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002323
29 aplasia/hypoplasia of the thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009601
30 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
31 urogenital sinus anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0100779
32 cafe-au-lait spot 60 33 occasional (7.5%) Occasional (29-5%) HP:0000957
33 posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000358
34 abnormality of the incisor 60 33 occasional (7.5%) Occasional (29-5%) HP:0000676
35 absent foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0011301
36 partial absence of foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0030032
37 agenesis of corpus callosum 60 33 very rare (1%) Very rare (<4-1%) HP:0001274
38 retinoblastoma 60 33 very rare (1%) Very rare (<4-1%) HP:0009919
39 abnormality of the coagulation cascade 60 33 very rare (1%) Very rare (<4-1%) HP:0003256
40 hypoplasia of the gallbladder 60 33 very rare (1%) Very rare (<4-1%) HP:0005233
41 abnormal retinal morphology 60 Very rare (<4-1%)
42 aplasia/hypoplasia involving bones of the hand 60 Frequent (79-30%)

Drugs & Therapeutics for Ring Chromosome 13

Drugs for Ring Chromosome 13 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational Phase 1 58-22-0, 481-30-1 10204 6013
2
Methyltestosterone Approved Phase 1 58-18-4 6010
3
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
4
Testosterone enanthate Approved Phase 1 315-37-7 9416
5 Hormone Antagonists Phase 1
6 Antineoplastic Agents, Hormonal Phase 1
7 Hormones Phase 1
8 Anabolic Agents Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
10 Androgens Phase 1
11 Testosterone 17 beta-cypionate Phase 1
12
carbamide peroxide Approved Not Applicable 124-43-6
13
Glycerol Approved, Investigational Not Applicable 56-81-5 753
14
Proline Approved, Nutraceutical Not Applicable 147-85-3 145742
15
Tyrosine Approved, Investigational, Nutraceutical Not Applicable 60-18-4 6057
16
Glycine Approved, Nutraceutical, Vet_approved Not Applicable 56-40-6 750
17
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
18
Taurine Approved, Nutraceutical Not Applicable 107-35-7 1123
19
Histidine Approved, Nutraceutical Not Applicable 71-00-1 6274
20
Ornithine Approved, Nutraceutical Not Applicable 70-26-8, 3184-13-2 6262
21
Isoleucine Approved, Investigational, Nutraceutical Not Applicable 73-32-5, 443-79-8 6306
22
Glutamic Acid Approved, Nutraceutical Not Applicable 56-86-0 33032
23
Indole Experimental Not Applicable 120-72-9 798
24 Whey Protein Not Applicable
25 Soy Bean Not Applicable
26 phenylalanine ,Not Applicable
27 Antioxidants Not Applicable
28 Caseins Not Applicable
29 Chelating Agents Not Applicable
30 Tryptophan Not Applicable
31 glutamine Not Applicable
32 leucine Not Applicable
33 valine Not Applicable
34 arginine Not Applicable
35 Caproate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cycled Testosterone Replacement Study Completed NCT00957528 Phase 1 Testosterone;Placebo
2 Effects of Protein Blends on Muscle Protein Synthesis in Healthy Older Adults Unknown status NCT01847261 Not Applicable
3 Novel Methodology to Measure Protein Accumulation Completed NCT01505621
4 Muscle Protein Synthesis Rates After Protein Consumption in Lean, Overweight, and Obese Adults Completed NCT02613767
5 Protein Blends (Soy, Whey and Casein) for Muscle Synthesis Completed NCT01358305 Not Applicable
6 Chronic Obstructive Pulmonary Disorder and Acute Exercise Recruiting NCT02780219 Not Applicable
7 Fish Oil and HMB Supplementation in COPD Recruiting NCT03796455 Not Applicable

Search 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 30

Anatomical Context for Ring Chromosome 13

MalaCards organs/tissues related to Ring Chromosome 13:

42
Testes, Skin, Bone, Thyroid, Placenta, Small Intestine

Publications for Ring Chromosome 13

Articles related to Ring Chromosome 13:

(show all 41)
# Title Authors Year
1
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13. ( 30500678 )
2018
2
Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case. ( 29237938 )
2017
3
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum. ( 29518772 )
2017
4
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. ( 25867311 )
2015
5
Ring chromosome 13 and ambiguous genitalia. ( 24932608 )
2014
6
A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. ( 25171325 )
2014
7
Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results. ( 25377780 )
2014
8
Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13. ( 23661454 )
2013
9
Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13. ( 23933417 )
2013
10
Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13. ( 24032285 )
2013
11
Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. ( 24032290 )
2013
12
Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. ( 27625853 )
2013
13
Monosomy and ring chromosome 13 in a thyroid nodular goiter-do we underestimate its relevance in benign thyroid lesions? ( 22469512 )
2012
14
A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism. ( 23431756 )
2012
15
Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report. ( 21396087 )
2011
16
Ring chromosome 13 in an infant with ambiguous genitalia. ( 16585823 )
2006
17
Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype. ( 15326636 )
2004
18
Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly. ( 11241535 )
2001
19
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. ( 11170089 )
2001
20
Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies. ( 11590457 )
2001
21
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qter. ( 10951464 )
2000
22
Keratoconus associated with chromosome 13 ring abnormality. ( 11032444 )
2000
23
Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition. ( 9823499 )
1998
24
Retinal detachment in an infant with the ring chromosome 13 syndrome. ( 9881566 )
1998
25
Skin pigmentation anomalies in ring chromosome 13. ( 9664214 )
1998
26
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. ( 9332662 )
1997
27
Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case. ( 1363214 )
1992
28
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. ( 1433229 )
1992
29
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. ( 2077349 )
1990
30
Clinical features in a case with ring chromosome 13. ( 4076259 )
1985
31
A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism. ( 6657600 )
1983
32
The ring chromosome 13 syndrome. ( 7129419 )
1982
33
Two cases of ring chromosome 13. Chromosome banding patterns and mosaic configuration. ( 6974524 )
1981
34
Prophase analysis of ring chromosome 13--an attempt at phenotype-karyotype correlation. ( 7440241 )
1980
35
Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34). ( 317785 )
1979
36
Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome. ( 717293 )
1978
37
Ring chromosome 13 syndrome. ( 1139790 )
1975
38
Ring chromosome 13 in a polymalformed anencephalic. ( 1140815 )
1975
39
The behavior of ring chromosome 13. ( 4140830 )
1974
40
Malformative syndrome with ring chromosome 13. ( 4140834 )
1974
41
Ring chromosome 13 and haptoglobin heterozygosity. ( 4691554 )
1973

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
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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