R10
MCID: RNG005
MIFTS: 29

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 52 58 29
Ring Chromosome 10 Syndrome 58 71
Chromosome 10 Ring 52 71
Ring 10 52 58
R10 52

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 10 syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Ring Chromosome 10

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1438 Definition An 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 muscular dystrophy, limb-girdle, autosomal recessive 10 and ring chromosome. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are intellectual disability and hypertelorism

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:

58 31 (showing 25, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
7 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
8 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
9 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
12 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
13 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
14 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
15 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
16 aganglionic megacolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0002251
17 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
18 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
19 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
20 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
21 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
22 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
23 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
24 seizure 31 hallmark (90%) HP:0001250
25 seizures 58 Very frequent (99-80%)

Drugs & Therapeutics for Ring Chromosome 10

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

(showing 13, show less)
# 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
Fenoldopam Approved Phase 2 67227-57-0, 67227-56-9 3341
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5 Estradiol 17 beta-cypionate Phase 2
6 Contraceptive Agents Phase 2
7 Estradiol 3-benzoate Phase 2
8 ST 1435 Phase 2
9 Dopamine Agents Phase 2
10 Neurotransmitter Agents Phase 2
11 Dopamine agonists Phase 2
12 Antihypertensive Agents Phase 2
13 Vasodilator Agents Phase 2

Interventional clinical trials:

(showing 3, show less)
# 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 Ring Chromosome 10 29

Anatomical Context for Ring Chromosome 10

MalaCards organs/tissues related to Ring Chromosome 10:

40
Heart

Publications for Ring Chromosome 10

Articles related to Ring Chromosome 10:

(showing 16, show less)
# Title Authors PMID Year
1
Ring Chromosome 10 in a Case of Acute Promyelocytic Leukemia. 61
27981936 2016
2
Clinical, cytogenetic and molecular study of a case of ring chromosome 10. 61
25922618 2015
3
Ring chromosome 10: report on two patients and review of the literature. 61
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. 61
21914491 2012
5
Chromosome r(10)(p15.3q26.12) in a newborn child: case report. 61
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. 61
15627745 2005
7
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 61
14598349 2003
8
Dysregulation of HMGIC in a uterine lipoleiomyoma with a complex rearrangement including chromosomes 7, 12, and 14. 61
10612811 2000
9
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. 61
7837258 1994
10
Report of a patient with a ring chromosome 10: mos45,XY,-10/46,XY/46,XY,r(10)(p15.3q26.3). 61
3834204 1985
11
Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis. 61
6705254 1984
12
Ring chromosome 10 and its clinical features. 61
6842550 1983
13
[Ring chromosome 10: 46,XX,r(10)(p15q26)]. 61
6982669 1982
14
Phenotype associated with ring 10 chromosome: report of patient and review of literature. 61
7025632 1981
15
Ring chromosome 10:46,XX,r(10)(p15 leads to q26). 61
7381872 1980
16
Ring chromosome 10 associated with multiple congenital malformations. 61
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 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
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