R18
MCID: RNG013
MIFTS: 24

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 52 58 29
Ring Chromosome 18 Syndrome 58 71
Chromosome 18 Ring 52 71
Ring 18 52 58
R18 52 17

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 18 syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C538304
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C0265475 C2931809
Orphanet 58 ORPHA1442
UMLS 71 C0265475 C2931809

Summaries for Ring Chromosome 18

NIH Rare Diseases : 52 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 muscular dystrophy, limb-girdle, autosomal recessive 1 and muscular dystrophy, limb-girdle, autosomal recessive 18. 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 93)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 11.4
2 muscular dystrophy, limb-girdle, autosomal recessive 18 11.4
3 ring chromosome 10.7
4 cerebral artery occlusion 10.4
5 brain injury 10.3
6 microcephaly 10.3
7 traumatic brain injury 10.2
8 hypothyroidism 10.2
9 immunoglobulin alpha deficiency 10.1
10 hypotonia 10.1
11 papillomatosis, confluent and reticulated 10.1
12 stomatitis 10.1
13 encephalopathy 10.1
14 head injury 10.1
15 rapidly involuting congenital hemangioma 10.1
16 cleft palate, isolated 10.1
17 hashimoto thyroiditis 10.1
18 hypertelorism 10.1
19 heart septal defect 10.1
20 thyroiditis 10.1
21 growth hormone deficiency 10.1
22 mosaic monosomy 18 10.1
23 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
24 cryptorchidism, unilateral or bilateral 10.0
25 hydrocephalus, congenital, 1 10.0
26 chromosome 18q deletion syndrome 10.0
27 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
28 alacrima, achalasia, and mental retardation syndrome 10.0
29 ventricular septal defect 10.0
30 speech disorder 10.0
31 cleft lip 10.0
32 autoimmune disease 9.8
33 van der woude syndrome 1 9.8
34 coloboma of macula 9.8
35 epicanthus 9.8
36 immunoglobulin a deficiency 1 9.8
37 klippel-trenaunay-weber syndrome 9.8
38 otitis media 9.8
39 nephrolithiasis, calcium oxalate 9.8
40 polykaryocytosis inducer 9.8
41 rheumatoid arthritis 9.8
42 strabismus 9.8
43 chromosome 2q35 duplication syndrome 9.8
44 anencephaly 9.8
45 autism 9.8
46 constricting bands, congenital 9.8
47 diabetes mellitus, type i 9.8
48 hypothyroidism, congenital, nongoitrous, 4 9.8
49 corpus callosum, partial agenesis of, x-linked 9.8
50 dermatitis, atopic 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 Ring Chromosome 18 29

Anatomical Context for Ring Chromosome 18

MalaCards organs/tissues related to Ring Chromosome 18:

40
Testes, Brain, Thyroid, Liver

Publications for Ring Chromosome 18

Articles related to Ring Chromosome 18:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18. 61
31788257 2019
2
[Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome]. 61
31598948 2019
3
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18. 61
31679365 2019
4
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. 61
31210441 2019
5
CRISPR-C: circularization of genes and chromosome by CRISPR in human cells. 61
30551175 2018
6
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
7
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18. 61
29560252 2017
8
Patchy white matter hyperintensity in ring chromosome 18 syndrome. 61
27577543 2016
9
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study. 61
27448395 2016
10
Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects. 61
26893613 2016
11
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes. 61
26468787 2015
12
Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing. 61
26224010 2015
13
Ring 18 molecular assessment and clinical consequences. 61
25339348 2015
14
Formation of a familial ring chromosome 18 investigated by SNP-array analysis. 61
24677800 2014
15
A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome. 61
24909220 2014
16
Selective IgM deficiency in a boy with ring chromosome 18. 61
25668898 2014
17
Ring chromosome 18: a case report. 61
25635256 2014
18
Single-nucleotide polymorphism array-based characterization of ring chromosome 18. 61
23876976 2013
19
Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome. 61
22947348 2012
20
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. 61
22887345 2012
21
Abnormal myelination in ring chromosome 18 syndrome. 61
22290857 2012
22
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination. 61
21669507 2012
23
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18. 61
22090726 2011
24
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. 61
21333764 2011
25
Autoimmune polyendocrinopathy associated with ring chromosome 18. 61
22145491 2011
26
Ring chromosome 18 in a child with febrile seizures. 61
21848009 2011
27
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. 61
21056319 2010
28
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. 61
20618949 2010
29
Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma. 61
20649984 2010
30
A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach. 61
19860520 2010
31
Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18. 61
18935916 2008
32
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. 61
17668239 2008
33
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18. 61
17595336 2007
34
[Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report]. 61
17160222 2006
35
Thai girl with ring chromosome 18 (46XX, r18). 61
16850691 2006
36
Identification and molecular characterization of a de novo supernumerary ring chromosome 18 in a patient with Klippel-Trenaunay syndrome. 61
15225160 2004
37
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin. 61
12574939 2003
38
Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. 61
12400074 2002
39
First familial case of ring chromosome 18 and monosomy 18 mosaicism. 61
11754054 2001
40
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. 61
11424138 2001
41
Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18. 61
11438954 2001
42
Fluorescence in situ hybridization: a rapid analysis to verify chromosome aberrations. 61
10865411 2000
43
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. 61
10051018 1999
44
Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18. 61
9813427 1998
45
Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome. 61
9568951 1998
46
Abnormal myelination in a patient with ring chromosome 18. 61
9453033 1997
47
Anencephaly with holoprosencephalic facies due to ring chromosome 18. 61
9354845 1997
48
Ring chromosome 18 in a fetus with only facial anomalies. 61
8958334 1996
49
Growth hormone neurosecretory dysfunction associated with ring chromosome 18. 61
8942020 1996
50
Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? 61
7839807 1994

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 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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