MCID: MNS008
MIFTS: 22

Monosomy 21 malady

Eye diseases, Fetal diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Monosomy 21

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Sources:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Monosomy 21:

Name: Monosomy 21 51
21q Deletion Syndrome 51
 
Partial 21q Monosomy 51
21q- Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
21q deletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet51 574
ICD10 via Orphanet28 Q93.0
UMLS via Orphanet66 C0795875

Summaries for Monosomy 21

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MalaCards based summary: Monosomy 21, also known as 21q deletion syndrome, is related to ring chromosome 21 and fragile x syndrome. An important gene associated with Monosomy 21 is GRIK1 (Glutamate Receptor, Ionotropic, Kainate 1). Affiliated tissues include eye and b cells.

Related Diseases for Monosomy 21

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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 Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1ring chromosome 2110.2
2fragile x syndrome10.1
3leukemia10.1
4thrombocytopenia10.1
5neuronitis10.1
6azoospermia10.1
7sclerocornea10.1
8epithelioid sarcoma10.1
9sarcoma10.1
10eec syndrome10.1
11neuronal migration disorders10.1
12differentiated thyroid carcinoma9.8GRIK1, RWDD2B

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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Drugs for Monosomy 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vorinostatapproved, investigationalPhase 1, Phase 2234149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
2
Sorafenibapproved, investigationalPhase 1, Phase 2653284461-73-0216239, 406563
Synonyms:
284461-73-0
4(4-{3-[4-Chloro-3-(trifluoromethyl)phenyl]ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-(4-((((4-Chloro-3-(trifluoromethyl)phenyl)amino)carbonyl)amino)phenoxy)-N-methyl-2-pyridinecarboxamide
4-(4-(3-(4-chloro-3-trifluoromethylphenyl)ureido)phenoxy)pyridine-2-carboxyllic acid methyamide-4-methylbenzenesulfonate
4-(4-{3-(4-Chloro-3-(trifluoromethyl)phenyl)ureido}phenoxy)-N(sup 2)-methylpyridine-2-carboxamide
4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methyl-pyridine-2-carboxamide
4-[4-[[4-chloro-3-(trifluoromethyl)phenyl]carbamoylamino]phenoxy]-N-methylpyridine-2-carboxamide
4-[4-[[[[4-chloro-3-(trifluoromethyl)phenyl]amino]carbonyl]amino]phenoxy]-N-methyl-2-pyridinecarboxamide
4-{4-[({[4-CHLORO-3-(TRIFLUOROMETHYL)PHENYL]AMINO}CARBONYL)AMINO]PHENOXY}-N-METHYLPYRIDINE-2-CARBOXAMIDE
AB1004622
AC-1674
AC1L50CF
BAX
BAY 43-9006
BAY 43-9006 (free base)
BAY 43-9006 tosylate salt
BAY 439006
BAY 54-9085 (tosylate salt)
BAY-43-0006
BAY-43-9006
BAY-54-9085
BAY43-9006
BRD-K23984367-001-01-8
Bio-0100
CHEBI:47228
CHEBI:50924
CHEMBL1336
CID216239
 
D08524
DB00398
DB07438
EN002709
I06-0856
K00597a
Kinome_766
LS-186067
LS-187021
LS-187788
MolPort-003-850-270
N-(4-Chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-Chloro-3-(trifluoromethyl)phenyl)-n'-(4-(2-(N-methylcarbamoyl)-4-pyridyloxy)phenyl)urea
N-(4-chloro-3-(trifluoromethyl)phenyl)-N'-(4-(2-(N-methylcar bamoyl)-4-pyridyloxy)phenyl)urea
N-[4-Chloro-3-(trifluoromethyl)phenyl]-N'-[4-[2-(N-methylcarbamoyl)-4-pyridyloxy]phenyl]urea
NCGC00167488-01
NSC-724772
NSC747971
Nexavar
STK627350
Sorafenib
Sorafenib (INN)
Sorafenib Tosylate
Sorafenib [INN]
Sorafenib tosylate
Sorafenibum
UNII-9ZOQ3TZI87
ZINC01493878
nchembio.117-comp17
sorafenib
sorafenibum
3
Bortezomibapproved, investigational, experimentalPhase 1, Phase 2758179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS 341
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
4
LenalidomideapprovedPhase 2652191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
 
D04687
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase I/II Study of Combination of Sorafenib, Vorinostat, and Bortezomib for the Treatment of Acute Myeloid Leukemia With Complex- or Poor-risk (Monosomy 5/7) Cytogenetics or FLT3-ITD Positive GenotypeRecruitingNCT01534260Phase 1, Phase 2
2Lenalidomide Maintenance Therapy in Patients With Myelodysplastic Syndromes (MDS) or Acute Myelogenous Leukemia (AML)TerminatedNCT00720850Phase 2
3Prenatal Screening for Down Syndrome With DNAFirstCompletedNCT01966991
4Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards TreatmentCompletedNCT02000167
5SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
6High Risk Multiple Gestation StudyRecruitingNCT02278874
7Multiple Gestation StudyRecruitingNCT02278536
8Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770

Search NIH Clinical Center for Monosomy 21

Genetic Tests for Monosomy 21

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Anatomical Context for Monosomy 21

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MalaCards organs/tissues related to Monosomy 21:

33
Eye, B cells

Animal Models for Monosomy 21 or affiliated genes

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Publications for Monosomy 21

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Articles related to Monosomy 21:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. (25803843)
2015
2
Deletion of the App-Runx1 region in mice models human partial monosomy 21. (26035870)
2015
3
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature. (24649383)
2014
4
Complete monosomy 21 confirmed by FISH and array-CGH. (22407893)
2012
5
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
6
Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population. (22753013)
2012
7
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. (21573680)
2011
8
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers. (19960447)
2010
9
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. (20492403)
2010
10
Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21. (19172430)
2009
11
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21. (18674646)
2008
12
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. (16449179)
2006
13
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
14
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. (16053908)
2005
15
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. (15103721)
2004
16
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
17
Maternal origin of monosomy 21 derived from ICSI. (11387276)
2001
18
Prenatal diagnosis of a fetus with megacystis and monosomy 21. (11438959)
2001
19
Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. (11343311)
2001
20
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
21
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
22
Abnormal clavicles in a neonate with partial monosomy 21. (10201044)
1999
23
Abnormal clavicles in a neonate with partial monosomy 21 by Wang and Aftimos, New Zealand. (10460336)
1999
24
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization. (9678410)
1998
25
Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization. (9110372)
1997
26
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature. (9128939)
1997
27
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
28
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. (7611297)
1995
29
Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies. (7747753)
1994
30
Thrombocytopenia and cleft hand in monosomy 21. (8031538)
1994
31
Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. (7995071)
1994
32
De novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (8448910)
1993
33
Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies. (8184402)
1993
34
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
35
Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype. (1605248)
1992
36
Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity. (3374538)
1988
37
Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. (3236369)
1988
38
Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination. (2972200)
1988
39
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
40
De novo partial monosomy 21 with unusual karyotype. (3735757)
1986
41
Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations. (6714262)
1984
42
&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
43
Down's syndrome subsequent to monosomy 21. (6452576)
1981
44
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation. (6448566)
1980
45
A low frequency mosaicism for monosomy 21 in a live born female. (511168)
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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Search GEO for disease gene expression data for Monosomy 21.

Pathways for genes affiliated with Monosomy 21

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GO Terms for genes affiliated with Monosomy 21

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Sources for Monosomy 21

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet