MCID: MNS008
MIFTS: 24

Monosomy 21 malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Monosomy 21

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Monosomy 21:

Name: Monosomy 21 51
Chromosome 21 Monosomy 65
21q Deletion Syndrome 51
 
Partial 21q Monosomy 51
21q- Syndrome 51

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 574
ICD10 via Orphanet28 Q93.0
UMLS via Orphanet66 C0795875
UMLS65 C0795875

Summaries for Monosomy 21

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MalaCards based summary: Monosomy 21, also known as chromosome 21 monosomy, is related to endotheliitis and rheumatoid arthritis. An important gene associated with Monosomy 21 is GRIK1 (Glutamate Ionotropic Receptor Kainate Type Subunit 1). Affiliated tissues include testes, eye and myeloid.

Related Diseases for Monosomy 21

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Graphical network of the top 20 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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bortezomibapproved, investigational, experimentalPhase 1, Phase 2769179324-69-7387447, 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
2
Vorinostatapproved, investigationalPhase 1, Phase 2238149647-78-95311
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
3
Sorafenibapproved, investigationalPhase 1, Phase 2671284461-73-0216239, 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
4
LenalidomideapprovedPhase 2674191732-72-6216326
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
lenalidomide
5Histone Deacetylase InhibitorsPhase 1, Phase 2532
6Protein Kinase InhibitorsPhase 1, Phase 23162
7Immunosuppressive AgentsPhase 210422
8Immunologic FactorsPhase 218483
9Angiogenesis InhibitorsPhase 23688
10Angiogenesis Modulating AgentsPhase 23611
11Anti-Bacterial AgentsPhase 29140
12Anti-Infective AgentsPhase 217220

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

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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
Testes, Eye, Myeloid, Breast, Liver, Uterus, Neutrophil

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
Decreased Interleukin-37 Expression in Vogt-Koyanagi-Harada Disease and Upregulation Following Immunosuppressive Treatment. (25343528)
2014
2
CD44 acts through RhoA to regulate YAP signaling. (25101858)
2014
3
Beneficial effects of renal sympathetic denervation on cardiovascular inflammation and remodeling in essential hypertension. (25326158)
2014
4
PSP94, an upstream signaling mediator of prostasin found highly elevated in ovarian cancer. (25188517)
2014
5
Ethnic aspects of hereditary breast cancer in the region of Siberia]. (25971130)
2014
6
A rare case of incidental pancreatic arteriovenous malformation correctly diagnosed with MDCT. (23474569)
2013
7
Long-term efficacy of single-dose radiofrequency-induced heat therapy vs. intralesional antimonials for cutaneous leishmaniasis in India. (23298394)
2013
8
Unusual breast neoplasm: primary breast lymphoma. (23749857)
2013
9
Neonatal outcome of preterm infants born to mothers with abnormal genital tract colonisation and chorioamnionitis: a cohort study. (23158015)
2013
10
Readers of PCNA modifications. (23580141)
2013
11
Nerve abscess in primary neuritic leprosy. (24171239)
2013
12
Reverse Fox Test for Detecting Visuospatial Dysfunction Corresponding to Parietal Hypoperfusion in Mild Alzheimer's Disease. (24226465)
2013
13
Frog saliva-induced toxic keratopathy: a case report. (22791555)
2012
14
Pain-related fear, perceived harmfulness of activities, and functional limitations in complex regional pain syndrome type I. (22033012)
2011
15
Down-regulation of Bax-interacting factor 1 in human pancreatic ductal adenocarcinoma. (21283040)
2011
16
The interferon-inducible host factor bone marrow stromal antigen 2/tetherin restricts virion release, but is it actually a viral restriction factor? (21166593)
2011
17
Expression and distribution of Na, K-ATPase isoforms in the human uterus. (20065300)
2010
18
Tuning of copper-loop flexibility in Bacillus subtilis CopZ copper chaperone: role of conserved residues. (19170606)
2009
19
Polymorphisms of the ICAM-1 gene are associated with biliary atresia. (18401716)
2008
20
Acrodermatitis enteropathica. (18328205)
2007
21
Betacellulin variants and type 2 diabetes in the Old Order Amish. (17479438)
2007
22
Advanced giant cell reparative granuloma of the mandible: radiological features and surgical treatment. (17063987)
2006
23
Effect of exercise intensity and hypoxia on skeletal muscle AMPK signaling and substrate metabolism in humans. (16263768)
2006
24
Rational design and applications of a Rac GTPase-specific small molecule inhibitor. (16472687)
2006
25
Fundamental role for HO-1 in the self-protection of renal allografts. (15084179)
2004
26
Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53. (12598619)
2003
27
Fainting. When it spells trouble and when it doesn't. (14646918)
2002
28
Expression and function of chemokine receptors on human thymocytes: implications for infection by human immunodeficiency virus type 1. (11507220)
2001
29
Neuroleptic malignant syndrome with hypotonia: a diagnostic challenge. (11455185)
2001
30
The functional neuroanatomy of social behaviour: changes in cerebral blood flow when people with autistic disorder process facial expressions. (11050021)
2000
31
Human RNase III is a 160-kDa protein involved in preribosomal RNA processing. (10948199)
2000
32
The mouse Psma1 gene coding for the alpha-type C2 proteasome subunit: structural and functional analysis, mapping, and colocalization with Pde3b on mouse chromosome 7. (10873386)
2000
33
Analgesic effect of salmon calcitonin suppositories in patients with acute pain due to recent osteoporotic vertebral crush fractures: a prospective double-blind, randomized, placebo-controlled clinical study. (10617256)
1999
34
GH/IGF-I axis in azoospermia in primary and secondary hypogonadism: a study before and during replacement therapy. (10367239)
1999
35
The expression of LFA-1, ICAM-1, CD80 and CD86 molecules in lupus patients: implication for immunotherapy. (10225679)
1999
36
Study of plasma albumin, transferrin, and fibronectin in children with mild to moderate protein-energy malnutrition. (9972082)
1998
37
Overexpression of both RAR and RXR restores AP-1 repression in ovarian adenocarcinoma cells resistant to retinoic acid-dependent growth inhibition. (8637715)
1996
38
Cadmium and mercury toxicity in a human fetal hepatic cell line (WRL-68 cells). (7482568)
1995
39
Trilineage response to granulocyte colony-stimulating factor administration in a patient with myelodysplastic syndrome. (7545637)
1995
40
Phase I and pharmacokinetic study of recombinant human granulocyte-macrophage colony-stimulating factor given in combination with fluorouracil plus calcium leucovorin in metastatic gastrointestinal adenocarcinoma. (8120554)
1994
41
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. (8358044)
1993
42
Acute promyelocytic leukemia with CD59 deficiency. (7692187)
1993
43
Mycobacterium kansasii infection following primary pulmonary malignancy. (1424867)
1992
44
Retrotransposon gene engineering. (1370056)
1991
45
Rhabdomyolysis and acute renal failure associated with cocaine abuse. (2231831)
1990
46
Primary cutaneous neuroendocrine carcinoma (Merkel cell tumor). An adnexal epithelial neoplasm. (2138434)
1990
47
Patterns of alcohol and drug abuse in an urban trauma center: the increasing role of cocaine abuse. (2593196)
1989
48
An electron microscopic investigation on the pathogenesis of human vaginal trichomoniasis. (310614)
1978
49
Disseminated and circumscribed neurodermatitis treated with phenindamine. (18147163)
1949
50

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