MCID: MNS014
MIFTS: 37

Monosomy 22

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

Aliases & Classifications for Monosomy 22

Summaries for Monosomy 22

MalaCards based summary : Monosomy 22, also known as deletion 22, is related to neurofibroma and mosaic monosomy 22. 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 skin, thymus and brain, and related phenotypes are short neck and finger syndactyly

Related Diseases for Monosomy 22

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
8 joint swelling 59 32 occasional (7.5%) Occasional (29-5%) HP:0001386
9 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
10 abnormal blistering of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008066
11 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
12 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
13 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
14 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
15 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
16 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
17 sarcoma 59 32 frequent (33%) Frequent (79-30%) HP:0100242
18 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
19 hypotrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001006
20 seborrheic dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001051
21 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
22 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
23 meningioma 59 32 frequent (33%) Frequent (79-30%) HP:0002858
24 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
25 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
26 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
27 single transverse palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0000954
28 hepatosplenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001433
29 scleroderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100324
30 contractures of the large joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0005781
31 schwannoma 59 32 frequent (33%) Frequent (79-30%) HP:0100008
32 aplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005359
33 prominent nasolabial fold 59 32 occasional (7.5%) Occasional (29-5%) HP:0005272
34 clubbing 59 32 occasional (7.5%) Occasional (29-5%) HP:0001217
35 hypochromic microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004840
36 gonadal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010785
37 narrow palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0045025
38 cutis gyrata of scalp 59 32 occasional (7.5%) Occasional (29-5%) HP:0010541
39 thickened skin 59 Occasional (29-5%)
40 abnormality of the periorbital region 59 Frequent (79-30%)

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:

41
Skin, Thymus, Brain, Ovary, Lung, Kidney, Salivary Gland

Publications for Monosomy 22

Articles related to Monosomy 22:

(show all 29)
# Title Authors Year
1
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22. ( 29736186 )
2018
2
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. ( 27118264 )
2016
3
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and I+-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor. ( 27765635 )
2016
4
Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas. ( 24171707 )
2013
5
Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. ( 20118769 )
2010
6
An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22. ( 19659869 )
2009
7
Monosomy 22 as a diagnostic aid in a case of late recurrence of adult granulosa cell tumor of the ovary. ( 15588863 )
2005
8
Monosomy 22 and trisomy 14 in a granulosa tumor metastatic to the lung 20 years after the removal of the primary tumor. ( 15899399 )
2005
9
Monosomy 22 and trisomy 14 may be early events in the tumorigenesis of adult granulosa cell tumor. ( 10432935 )
1999
10
Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance. ( 9511978 )
1998
11
Monosomy 22 in a case of biliary adenofibroma. ( 9078308 )
1997
12
Monosomy 22 in a mixed germ cell-sex cord-stromal tumor of the ovary. ( 9219001 )
1997
13
Monosomy 22 in a fibrothecoma. ( 9398868 )
1997
14
Monosomy 22 mosaicism. ( 9332105 )
1997
15
Monosomy 22 and del(10)(p12) in an ameloblastoma previously diagnosed as an adenoid cystic carcinoma of the salivary gland. ( 8908172 )
1996
16
Monosomy 22 in two ovarian granulosa cell tumors. ( 8697433 )
1996
17
Digeorge syndrome with total monosomy 22 diagnosed prenatally. ( 7784374 )
1995
18
Monosomy 22 in a malignant peripheral nerve sheath tumour of the kidney in childhood: a genetic link with other malignant paediatric renal neoplasms? ( 8847069 )
1995
19
Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow. ( 2148373 )
1990
20
Monosomy 22 in rhabdoid or atypical tumors of the brain. ( 2213160 )
1990
21
Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. ( 2770830 )
1989
22
Ependymomas in two sisters and a maternal male cousin with mosaicism with monosomy 22 in tumour. ( 2699660 )
1989
23
Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome. ( 3314667 )
1987
24
Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas. ( 3098672 )
1986
25
Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? ( 6842539 )
1983
26
Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally. ( 6460105 )
1981
27
Monosomy 22 with mosaicism. ( 7253004 )
1981
28
Monosomy 14, monosomy 22 and 13q--three chromosomal abnormalities observed in cells of two malignant mesotheliomas studied by banding techniques. ( 281850 )
1978
29
Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome. ( 1002156 )
1976

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 11.19 CLDN6 NF2
2 10.81 CTNNA3 NF2

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 CTNNA3 NF2
2 adherens junction GO:0005912 8.62 CTNNA3 NF2

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 CLDN6 NF2

Sources for Monosomy 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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