MCID: MNS008
MIFTS: 31

Monosomy 21 malady

Eye diseases, Fetal diseases, Rare diseases categories

Summaries for Monosomy 21

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34MalaCards
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MalaCards: Monosomy 21, also known as gene deletion abnormality, is related to chromosome 21q deletion and neuronitis. An important gene associated with Monosomy 21 is GRIK1 (glutamate receptor, ionotropic, kainate 1), and among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. The compounds gaba and glutamate have been mentioned in the context of this disorder. Affiliated tissues include eye and b cells.

Aliases & Classifications for Monosomy 21

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Sources:
50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

50
partial 21q monosomy:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

monosomy 21 50
gene deletion abnormality 63
chromosome 21 monosomy 63
partial 21q monosomy 50
21q- syndrome 50
21q deletion 50


External Ids:

ICD10 via Orphanet27 Q93.0
UMLS via Orphanet64 C0795875

Related Diseases for Monosomy 21

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Monosomy 18p family:

monosomy 21 Monosomy Xp21
Monosomy 9q22.3 Monosomy 22

Diseases related to Monosomy 21 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 21q deletion10.4
2neuronitis10.1
3fragile x syndrome10.1
4epithelioid sarcoma10.1
5leukemia10.1
6sarcoma10.1
7thrombocytopenia10.1
8eec syndrome10.1
9ring chromosome 2110.1
10mental retardation10.1
11neuronal migration disorders10.1
12brain ischemia10.0GRIK1, APP
13toxic encephalopathy10.0APP, GRIK1
14encephalitis10.0APP, GRIK1
15tetanus10.0APP, GRIK1
16alzheimer's disease10.0GRIK1, APP
17down syndrome10.0GRIK1, APP
18amyotrophic lateral sclerosis9.9GRIK1, APP

Graphical network of diseases related to Monosomy 21:



Diseases related to monosomy 21

Symptoms for Monosomy 21

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Drugs & Therapeutics for Monosomy 21

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Monosomy 21

Drug clinical trials:

Search ClinicalTrials for Monosomy 21

Search NIH Clinical Center for Monosomy 21

Search CenterWatch for Monosomy 21

Genetic Tests for Monosomy 21

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Anatomical Context for Monosomy 21

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34MalaCards
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MalaCards organs/tissues related to Monosomy 21:

34
Eye, B cells

Animal Models for Monosomy 21 or affiliated genes

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Publications for Monosomy 21

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Sources:
53PubMed
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Articles related to Monosomy 21:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Complete monosomy 21 confirmed by FISH and array-CGH. (22407893)
2012
2
Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. (22482972)
2012
3
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. (22753013)
2012
4
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. (21573680)
2011
5
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. (19960447)
2010
6
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. (20492403)
2010
7
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. (19172430)
2009
8
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. (18674646)
2008
9
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. (16449179)
2006
10
A clonal dic(16;21)(p13.1;p11.2)del(16)(q11.1), with gains of several chromosomes and monosomy 21, in a case of splenic hamartoma: evidence for its neoplastic, not hamartomatous, origin. (15721639)
2005
11
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. (16053908)
2005
12
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. (15103721)
2004
13
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. (12150215)
2002
14
De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21. (11332980)
2001
15
Maternal origin of monosomy 21 derived from ICSI. (11387276)
2001
16
Prenatal diagnosis of a fetus with megacystis and monosomy 21. (11438959)
2001
17
Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. (11343311)
2001
18
Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21. (10759714)
2000
19
Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5. (10729227)
2000
20
Abnormal clavicles in a neonate with partial monosomy 21. (10201044)
1999
21
Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand. (10460336)
1999
22
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. (9678410)
1998
23
Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. (9110372)
1997
24
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. (9128939)
1997
25
High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. (9226369)
1997
26
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. (7611297)
1995
27
Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. (7747753)
1994
28
Thrombocytopenia and cleft hand in monosomy 21. (8031538)
1994
29
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. (7995071)
1994
30
De novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (8448910)
1993
31
Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies. (8184402)
1993
32
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. (7506129)
1993
33
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. (1605248)
1992
34
Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity. (3374538)
1988
35
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. (3236369)
1988
36
Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination. (2972200)
1988
37
Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (2902789)
1988
38
Monosomy 21, partial duplication of chromosome 11, and structural abnormality of chromosome 1q21 in a case of lymphoma developing in a transplant recipient: characteristic abnormalities of secondary lymphoma? (3539317)
1987
39
De novo partial monosomy 21 with unusual karyotype. (3735757)
1986
40
Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations. (6714262)
1984
41
&quot;Pure&quot; monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22). (6607704)
1983
42
Down's syndrome subsequent to monosomy 21. (6452576)
1981
43
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation. (6448566)
1980
44
A low frequency mosaicism for monosomy 21 in a live born female. (511168)
1979
45
Monosomy 21: a possible stepwise evolution of the karyotype. (574719)
1979
46
Incomplete EEC syndrome in a patient with mosaic monosomy 21. (281284)
1978
47
A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. (975937)
1976
48
A male infant with monosomy 21. (1176129)
1975
49
Monosomy 21 in spontaneous abortus. (4117155)
1972
50
Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q+). (5146418)
1971

Variations for Monosomy 21

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Expression for genes affiliated with Monosomy 21

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Monosomy 21

Search GEO for disease gene expression data for Monosomy 21.

Pathways for genes affiliated with Monosomy 21

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Compounds for genes affiliated with Monosomy 21

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Monosomy 21 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gaba469.0GRIK1, APP
2glutamate469.0GRIK1, APP
3nmda46 309.9GRIK1, APP
4dopamine46 30 25 1211.7GRIK1, APP

GO Terms for genes affiliated with Monosomy 21

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17Gene Ontology
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Cellular components related to Monosomy 21 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058879.0GRIK1, APP

Biological processes related to Monosomy 21 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor signaling pathwayGO:0352359.0GRIK1, APP

Products for genes affiliated with Monosomy 21

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monosomy 21

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet