MCID: MNS014
MIFTS: 34

Monosomy 22

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

Aliases & Classifications for Monosomy 22

Summaries for Monosomy 22

MalaCards based summary : Monosomy 22, also known as deletion 22, is related to secretory meningioma and neurilemmoma. An important gene associated with Monosomy 22 is CLDN6 (Claudin 6), and among its related pathways/superpathways are Tight junction and Hippo signaling pathway. Affiliated tissues include thymus, ovary and pineal, and related phenotypes are intellectual disability and high palate

Related Diseases for Monosomy 22

Diseases in the Autosomal Monosomy family:

Monosomy 21 Familial Monosomy 7 Syndrome
Monosomy 9q22.3 Total Autosomal Monosomy
Monosomy 22

Diseases related to Monosomy 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 secretory meningioma 29.8 SMARCB1 NF2
2 neurilemmoma 29.7 SMARCB1 NF2
3 neurilemmomatosis 29.5 SMARCB1 NF2
4 rhabdoid cancer 29.2 SMARCB1 NF2 CLDN6
5 meningioma, familial 29.1 SMARCB1 NF2 CTNNA3
6 mosaic monosomy 22 11.3
7 chromosome 22q11.2 deletion syndrome, distal 11.1
8 chromosomal triplication 10.1
9 digeorge syndrome 10.1
10 intracranial meningioma 10.0
11 lymphoplasmacyte-rich meningioma 10.0
12 neurofibromatosis 10.0
13 neurofibroma 10.0
14 cleft palate, isolated 10.0
15 hypotonia 10.0
16 peripheral nerve schwannoma 10.0 SMARCB1 NF2
17 optic nerve sheath meningioma 10.0 SMARCB1 NF2
18 plexiform schwannoma 10.0 SMARCB1 NF2
19 schwannoma of twelfth cranial nerve 10.0 SMARCB1 NF2
20 hypoglossal nerve disease 9.9 SMARCB1 NF2
21 kidney rhabdoid cancer 9.9 SMARCB1 CLDN6
22 melanotic neurilemmoma 9.9 SMARCB1 NF2
23 optic nerve neoplasm 9.9 SMARCB1 NF2
24 cellular schwannoma 9.9 SMARCB1 NF2
25 meningioma, radiation-induced 9.9 SMARCB1 NF2
26 corpus callosum lipoma 9.9 SMARCB1 NF2
27 cerebral hemisphere lipoma 9.9 SMARCB1 NF2
28 rhabdoid meningioma 9.9 SMARCB1 NF2
29 spinal canal and spinal cord meningioma 9.9 SMARCB1 NF2
30 spinal meningioma 9.9 SMARCB1 NF2
31 schwannomatosis 1 9.9 SMARCB1 NF2
32 cranial nerve neoplasm 9.9 SMARCB1 NF2
33 clear cell meningioma 9.9 SMARCB1 NF2
34 spinal cancer 9.9 SMARCB1 NF2
35 cerebral ventricle cancer 9.9 SMARCB1 NF2
36 cerebrum cancer 9.9 SMARCB1 NF2
37 supratentorial cancer 9.8 SMARCB1 NF2
38 neurofibromatosis, type ii 9.8
39 cri-du-chat syndrome 9.8
40 epicanthus 9.8
41 hypertelorism 9.8
42 chromosome 2q35 duplication syndrome 9.8
43 down syndrome 9.8
44 gastroschisis 9.8
45 myelofibrosis 9.8
46 sarcoma, synovial 9.8
47 phelan-mcdermid syndrome 9.8
48 rhabdoid tumor predisposition syndrome 1 9.8
49 ewing sarcoma 9.8
50 hypochromic microcytic anemia 9.8

Graphical network of the top 20 diseases related to Monosomy 22:



Diseases related to Monosomy 22

Symptoms & Phenotypes for Monosomy 22

Human phenotypes related to Monosomy 22:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
3 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
4 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
5 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
6 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
7 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
8 sarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0100242
9 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
10 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
13 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
14 meningioma 58 31 frequent (33%) Frequent (79-30%) HP:0002858
15 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
16 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
17 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
18 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
19 narrow palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0045025
20 schwannoma 58 31 frequent (33%) Frequent (79-30%) HP:0100008
21 abnormality of the periorbital region 58 31 frequent (33%) Frequent (79-30%) HP:0000606
22 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
23 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
24 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
25 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
26 joint swelling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001386
27 seborrheic dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001051
28 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
29 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008066
30 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
31 cutis gyrata of scalp 58 31 occasional (7.5%) Occasional (29-5%) HP:0010541
32 scleroderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100324
33 aplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005359
34 hypochromic microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004840
35 gonadal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010785
36 contractures of the large joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0005781
37 clubbing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001217
38 prominent nasolabial fold 58 31 occasional (7.5%) Occasional (29-5%) HP:0005272
39 sparse hair 31 occasional (7.5%) HP:0008070
40 hypotrichosis 58 Occasional (29-5%)
41 thickened skin 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Monosomy 22 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

Drugs & Therapeutics for Monosomy 22

Search Clinical Trials , NIH Clinical Center for Monosomy 22

Genetic Tests for Monosomy 22

Anatomical Context for Monosomy 22

MalaCards organs/tissues related to Monosomy 22:

40
Thymus, Ovary, Pineal, Spinal Cord, Salivary Gland, Cervix, Myeloid

Publications for Monosomy 22

Articles related to Monosomy 22:

(show top 50) (show all 200)
# Title Authors PMID Year
1
Detection of key gene InDels in TGF-β pathway and its relationship with growth traits in four sheep breeds. 61
31625451 2021
2
Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model. 61
33443009 2021
3
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. 61
29736186 2018
4
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors. 61
29164644 2017
5
Genomic landscape of high-grade meningiomas. 61
28713588 2017
6
Spinal cord gliosarcoma with rhabdomyoblastic differentiation: a case report. 61
31966862 2017
7
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor. 61
27765635 2016
8
Genetic landscape of meningioma. 61
27624470 2016
9
Monosomy 22 and partial loss of INI1 expression in a biphasic synovial sarcoma with an Ewing sarcoma-like poorly differentiated component: Report of a case. 61
27118264 2016
10
Humoral deficiency in three paediatric patients with genetic diseases. 61
26947896 2016
11
Tumor infiltrating immune cells in gliomas and meningiomas. 61
26216710 2016
12
An unusual karyotype in leiomyoma: Case report and literature review. 61
27047231 2015
13
Genetic/molecular alterations of meningiomas and the signaling pathways targeted. 61
25965831 2015
14
Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes. 61
25884336 2015
15
The protein expression profile of meningioma cells is associated with distinct cytogenetic tumour subgroups. 61
24612434 2015
16
Genetic profiling by single-nucleotide polymorphism-based array analysis defines three distinct subtypes of orbital meningioma. 61
24773246 2015
17
Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas. 61
24171707 2013
18
Clinico-pathological impact of cytogenetic subgroups in B-cell chronic lymphocytic leukemia: experience from India. 61
24061469 2013
19
Genetic changes with prognostic value in histologically benign meningiomas. 61
23442303 2013
20
Primary rhabdoid tumor with low grade glioma component of the central nervous system in a young adult. 61
22765644 2013
21
Association between inflammatory infiltrates and isolated monosomy 22/del(22q) in meningiomas. 61
24098347 2013
22
Heterozygous loss of NF2 is an early molecular alteration in well-differentiated papillary mesothelioma of the peritoneum. 61
23036697 2012
23
Delineation of commonly deleted chromosomal regions in meningiomas by high-density single nucleotide polymorphism genotyping arrays. 61
22371336 2012
24
Aberrations of chromosomes 9 and 22 in acute lymphoblastic leukemia cases detected by ES-fluorescence in situ hybridization. 61
22360868 2012
25
Novel cell lines established from pediatric brain tumors. 61
22120608 2012
26
Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: genetic characterization. 61
22082607 2011
27
High expression of BMP pathway genes distinguishes a subset of atypical teratoid/rhabdoid tumors associated with shorter survival. 61
21946044 2011
28
Perilobar nephrogenic rests and chromosome 22. 61
21864120 2011
29
FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary. 61
22200085 2011
30
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 61
20880125 2011
31
A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature. 61
21127945 2011
32
Giant frontal colliding meningiomas in a child: histopathologic, cytogenetic, and ultrastructural descriptions of a unique case. 61
21417911 2011
33
Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. 61
21072517 2011
34
The molecular genetics and tumor pathogenesis of meningiomas and the future directions of meningioma treatments. 61
21529177 2011
35
Multiple meningioma with different grades of malignancy: case report with genetic analysis applying single-nucleotide polymorphism array and classical cytogenetics. 61
20926204 2011
36
Cytogenetic findings in Wilms' tumour: a single institute study. 61
21080873 2010
37
CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas. 61
20831745 2010
38
Atypical teratoid/rhabdoid tumor of the pineal region in an adult. 61
19911885 2010
39
Precise DNA genotyping diagnosis of hydatidiform mole. 61
20308840 2010
40
Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. 61
20118769 2010
41
An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22. 61
19659869 2009
42
Cytogenetic characterizations of central nervous system tumors: the first comprehensive report from a single institution in Korea. 61
19543509 2009
43
High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene. 61
18664255 2008
44
Primary clear cell meningioma of the orbit mimicking a metastatic carcinoma: usefulness of immunohistochemistry and cytogenetic analysis. 61
18193452 2008
45
Deletion 22q11 and isolated congenital heart disease. 61
17328976 2008
46
Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniques. 61
18068535 2008
47
Patient gender is associated with distinct patterns of chromosomal abnormalities and sex chromosome linked gene-expression profiles in meningiomas. 61
17962616 2007
48
Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. 61
17377740 2007
49
Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. 61
17603804 2007
50
Hyperdiploidy defines a distinct cytogenetic entity of meningiomas. 61
17225936 2007

Variations for Monosomy 22

Expression for Monosomy 22

Search GEO for disease gene expression data for Monosomy 22.

Pathways for Monosomy 22

Pathways related to Monosomy 22 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 NF2 CLDN6
2 10.82 NF2 CTNNA3

GO Terms for Monosomy 22

Cellular components related to Monosomy 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 8.96 NF2 CTNNA3
2 adherens junction GO:0005912 8.62 NF2 CTNNA3

Biological processes related to Monosomy 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction organization GO:0045216 8.62 NF2 CLDN6

Sources for Monosomy 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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