R18
MCID: RNG013
MIFTS: 25

Ring Chromosome 18 (R18)

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

Aliases & Classifications for Ring Chromosome 18

MalaCards integrated aliases for Ring Chromosome 18:

Name: Ring Chromosome 18 53 59
Ring Chromosome 18 Syndrome 59 72
Chromosome 18 Ring 53 72
Ring 18 53 59
R18 53 17
Chromosome 18, Ring 29

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 18 syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

Classifications:



External Ids:

MESH via Orphanet 45 C538304
ICD10 via Orphanet 34 Q93.2
UMLS via Orphanet 73 C0265475 C2931809
Orphanet 59 ORPHA1442
UMLS 72 C0265475 C2931809

Summaries for Ring Chromosome 18

NIH Rare Diseases : 53 Ring chromosome 18 is a rare chromosome abnormality in which the ends (arms) of chromosome 18 join together to form a ring shape. When a ring chromosome forms, genetic material can be lost from either arm or both arms, causing various signs and symptoms. While most people with ring chromosome 18 have the ring chromosome in all of their body cells, some people also have some body cells with normal chromosomes (this is called mosaicism). People with ring chromosome 18 mosaicism may have milder symptoms. Depending on the amount of genetic material lost and which genes are involved, signs and symptoms that may be present in a person with ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis, holoprosencephaly, developmental delays, learning difficulties, short stature, and/or various birth defects. Ring chromosome 18 usually occurs sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, it is inherited from a parent (typically the mother). A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality. Treatment for ring chromosome 18 depends on the signs and symptoms present in each person.

MalaCards based summary : Ring Chromosome 18, also known as ring chromosome 18 syndrome, is related to ring chromosome and cerebral artery occlusion. Affiliated tissues include testes, brain and thyroid.

Related Diseases for Ring Chromosome 18

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 10.7
2 cerebral artery occlusion 10.4
3 microcephaly 10.3
4 brain injury 10.2
5 traumatic brain injury 10.2
6 hypothyroidism 10.2
7 immunoglobulin alpha deficiency 10.1
8 hypotonia 10.1
9 hydrops, lactic acidosis, and sideroblastic anemia 10.1
10 stomatitis 10.1
11 encephalopathy 10.1
12 head injury 10.1
13 rapidly involuting congenital hemangioma 10.1
14 cleft palate, isolated 10.1
15 hashimoto thyroiditis 10.1
16 hypertelorism 10.1
17 heart septal defect 10.1
18 thyroiditis 10.1
19 growth hormone deficiency 10.1
20 mosaic monosomy 18 10.1
21 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
22 cryptorchidism, unilateral or bilateral 10.0
23 hydrocephalus, congenital, 1 10.0
24 pseudovaginal perineoscrotal hypospadias 10.0
25 chromosome 18q deletion syndrome 10.0
26 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
27 alacrima, achalasia, and mental retardation syndrome 10.0
28 ventricular septal defect 10.0
29 speech disorder 10.0
30 cleft lip 10.0
31 autoimmune disease 9.8
32 van der woude syndrome 1 9.8
33 coloboma of macula 9.8
34 epicanthus 9.8
35 immunoglobulin a deficiency 1 9.8
36 klippel-trenaunay-weber syndrome 9.8
37 otitis media 9.8
38 polykaryocytosis inducer 9.8
39 rheumatoid arthritis 9.8
40 strabismus 9.8
41 anencephaly 9.8
42 autism 9.8
43 diabetes mellitus, insulin-dependent 9.8
44 hypothyroidism, congenital, nongoitrous, 4 9.8
45 corpus callosum, partial agenesis of, x-linked 9.8
46 dermatitis, atopic 9.8
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
48 pitt-hopkins syndrome 9.8
49 scoliosis 9.8
50 ptosis 9.8

Graphical network of the top 20 diseases related to Ring Chromosome 18:



Diseases related to Ring Chromosome 18

Symptoms & Phenotypes for Ring Chromosome 18

Drugs & Therapeutics for Ring Chromosome 18

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 18

Genetic Tests for Ring Chromosome 18

Genetic tests related to Ring Chromosome 18:

# Genetic test Affiliating Genes
1 Chromosome 18, Ring 29

Anatomical Context for Ring Chromosome 18

MalaCards organs/tissues related to Ring Chromosome 18:

41
Testes, Brain, Thyroid, Liver

Publications for Ring Chromosome 18

Articles related to Ring Chromosome 18:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. 38
31210441 2019
2
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells. 38
30551175 2018
3
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 38
29492108 2018
4
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18. 38
29560252 2017
5
Patchy white matter hyperintensity in ring chromosome 18 syndrome. 38
27577543 2016
6
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study. 38
27448395 2016
7
Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects. 38
26893613 2016
8
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes. 38
26468787 2015
9
Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing. 38
26224010 2015
10
Ring 18 molecular assessment and clinical consequences. 38
25339348 2015
11
Formation of a familial ring chromosome 18 investigated by SNP-array analysis. 38
24677800 2014
12
A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome. 38
24909220 2014
13
Selective IgM deficiency in a boy with ring chromosome 18. 38
25668898 2014
14
Ring chromosome 18: a case report. 38
25635256 2014
15
Single-nucleotide polymorphism array-based characterization of ring chromosome 18. 38
23876976 2013
16
Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome. 38
22947348 2012
17
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. 38
22887345 2012
18
Abnormal myelination in ring chromosome 18 syndrome. 38
22290857 2012
19
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. 38
21669507 2012
20
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18. 38
22090726 2011
21
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. 38
21333764 2011
22
Ring chromosome 18 in a child with febrile seizures. 38
21848009 2011
23
Autoimmune polyendocrinopathy associated with ring chromosome 18. 38
22145491 2011
24
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. 38
21056319 2010
25
Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma. 38
20649984 2010
26
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. 38
20618949 2010
27
A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach. 38
19860520 2010
28
Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18. 38
18935916 2008
29
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. 38
17668239 2008
30
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18. 38
17595336 2007
31
[Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report]. 38
17160222 2006
32
Thai girl with ring chromosome 18 (46XX, r18). 38
16850691 2006
33
Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. 38
15225160 2004
34
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin. 38
12574939 2003
35
Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. 38
12400074 2002
36
First familial case of ring chromosome 18 and monosomy 18 mosaicism. 38
11754054 2001
37
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. 38
11424138 2001
38
Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18. 38
11438954 2001
39
Fluorescence in situ hybridization: a rapid analysis to verify chromosome aberrations. 38
10865411 2000
40
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. 38
10051018 1999
41
Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18. 38
9813427 1998
42
Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome. 38
9568951 1998
43
Abnormal myelination in a patient with ring chromosome 18. 38
9453033 1997
44
Anencephaly with holoprosencephalic facies due to ring chromosome 18. 38
9354845 1997
45
Ring chromosome 18 in a fetus with only facial anomalies. 38
8958334 1996
46
Growth hormone neurosecretory dysfunction associated with ring chromosome 18. 38
8942020 1996
47
Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? 38
7839807 1994
48
Hypothalamic growth hormone deficiency in a patient with ring chromosome 18. 38
8157016 1994
49
Nasal pyriform aperture stenosis and the holoprosencephaly spectrum. 38
8157419 1994
50
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. 38
8301656 1993

Variations for Ring Chromosome 18

Expression for Ring Chromosome 18

Search GEO for disease gene expression data for Ring Chromosome 18.

Pathways for Ring Chromosome 18

GO Terms for Ring Chromosome 18

Sources for Ring Chromosome 18

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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