R10
MCID: RNG005
MIFTS: 28

Ring Chromosome 10 (R10)

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

Aliases & Classifications for Ring Chromosome 10

MalaCards integrated aliases for Ring Chromosome 10:

Name: Ring Chromosome 10 53 59
Ring Chromosome 10 Syndrome 59 72
Chromosome 10 Ring 53 72
Ring 10 53 59
Chromosome 10, Ring 29
R10 53

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 10 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

MESH via Orphanet 45 C538086
ICD10 via Orphanet 34 Q93.2
UMLS via Orphanet 73 C0265438 C2931727
Orphanet 59 ORPHA1438
UMLS 72 C0265438 C2931727

Summaries for Ring Chromosome 10

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1438DefinitionAn autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 10, also known as ring chromosome 10 syndrome, is related to ring chromosome and osteogenic sarcoma. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Ring Chromosome 10

Graphical network of the top 20 diseases related to Ring Chromosome 10:



Diseases related to Ring Chromosome 10

Symptoms & Phenotypes for Ring Chromosome 10

Human phenotypes related to Ring Chromosome 10:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
5 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
13 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
14 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
15 renal hypoplasia/aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008678
16 aganglionic megacolon 59 32 hallmark (90%) Very frequent (99-80%) HP:0002251
17 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
18 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
19 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
20 sandal gap 59 32 hallmark (90%) Very frequent (99-80%) HP:0001852
21 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
22 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
23 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
24 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182

Drugs & Therapeutics for Ring Chromosome 10

Drugs for Ring Chromosome 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 2 28014-46-2
3
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
4
Fenoldopam Approved Phase 2 67227-56-9, 67227-57-0 3341
5 Estrogens Phase 2
6 Hormones Phase 2
7 Contraceptive Agents Phase 2
8 ST 1435 Phase 2
9 Estradiol 17 beta-cypionate Phase 2
10 Hormone Antagonists Phase 2
11 Estradiol 3-benzoate Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
13 Neurotransmitter Agents Phase 2
14 Antihypertensive Agents Phase 2
15 Dopamine Agents Phase 2
16 Dopamine agonists Phase 2
17 Vasodilator Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Dose-finding Study to Evaluate the Effect of a Contraceptive Vaginal Ring, Releasing Nestorone® and Estradiol, on Cycle Control, Ovulation Inhibition, and Pharmacokinetics in Normal Cycling Women Completed NCT01586000 Phase 2 10 µg/day E2 with NES 200® µg/day;20 µg/day E2 with NES 200® µg/day;40 µg/day E2 with NES 200® µg/day
2 A Pilot Study to Investigate Fenoldopam Usage in the Prevention of Postoperative Renal Dysfunction in Patients at a High Risk for Renal Impairment During Cariopulmonary Bypass for Cardiac Surgery Completed NCT00467181 Phase 2 Fenoldopam
3 Improving Mitral Repair for Functional Mitral Regurgitation Recruiting NCT03366649

Search NIH Clinical Center for Ring Chromosome 10

Genetic Tests for Ring Chromosome 10

Genetic tests related to Ring Chromosome 10:

# Genetic test Affiliating Genes
1 Chromosome 10, Ring 29

Anatomical Context for Ring Chromosome 10

MalaCards organs/tissues related to Ring Chromosome 10:

41
Heart

Publications for Ring Chromosome 10

Articles related to Ring Chromosome 10:

(show all 16)
# Title Authors PMID Year
1
Ring Chromosome 10 in a Case of Acute Promyelocytic Leukemia. 38
27981936 2016
2
Clinical, cytogenetic and molecular study of a case of ring chromosome 10. 38
25922618 2015
3
Ring chromosome 10: report on two patients and review of the literature. 38
23247912 2013
4
Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3. 38
21914491 2012
5
Chromosome r(10)(p15.3q26.12) in a newborn child: case report. 38
19968867 2009
6
First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature. 38
15627745 2005
7
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 38
14598349 2003
8
Dysregulation of HMGIC in a uterine lipoleiomyoma with a complex rearrangement including chromosomes 7, 12, and 14. 38
10612811 2000
9
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 38
7837258 1994
10
Report of a patient with a ring chromosome 10: mos45,XY,-10/46,XY/46,XY,r(10)(p15.3q26.3). 38
3834204 1985
11
Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis. 38
6705254 1984
12
Ring chromosome 10 and its clinical features. 38
6842550 1983
13
[Ring chromosome 10: 46,XX,r(10)(p15q26)]. 38
6982669 1982
14
Phenotype associated with ring 10 chromosome: report of patient and review of literature. 38
7025632 1981
15
Ring chromosome 10:46,XX,r(10)(p15 leads to q26). 38
7381872 1980
16
Ring chromosome 10 associated with multiple congenital malformations. 38
511137 1979

Variations for Ring Chromosome 10

Expression for Ring Chromosome 10

Search GEO for disease gene expression data for Ring Chromosome 10.

Pathways for Ring Chromosome 10

GO Terms for Ring Chromosome 10

Sources for Ring Chromosome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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