MCID: SMR006
MIFTS: 25

Smarca4-Deficient Sarcoma of Thorax

Categories: Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Smarca4-Deficient Sarcoma of Thorax

MalaCards integrated aliases for Smarca4-Deficient Sarcoma of Thorax:

Name: Smarca4-Deficient Sarcoma of Thorax 12 58 15
Smarca4-Deficient Thoracic Sarcoma 58
Smarca4-Dts 12

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0080532
Orphanet 58 ORPHA466962

Summaries for Smarca4-Deficient Sarcoma of Thorax

Disease Ontology : 12 A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has material basis in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex).

MalaCards based summary : Smarca4-Deficient Sarcoma of Thorax, also known as smarca4-deficient thoracic sarcoma, is related to rhabdoid cancer and sarcoma. An important gene associated with Smarca4-Deficient Sarcoma of Thorax is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chromatin organization. Related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Smarca4-Deficient Sarcoma of Thorax

Diseases related to Smarca4-Deficient Sarcoma of Thorax via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 28.8 SMARCB1 SMARCA4 SMARCA2 BANF1 ACTL6A
2 sarcoma 10.7
3 spindle cell sarcoma 10.7
4 pleural empyema 10.2
5 soft tissue sarcoma 10.2
6 rare tumor 10.2
7 basan syndrome 10.1 SMARCA4 SMARCA2
8 adiaspiromycosis 10.1 SMARCA4 SMARCA2
9 developmental and epileptic encephalopathy 14 10.1 SMARCA4 SMARCA2
10 small cell carcinoma 10.1 SMARCA4 SMARCA2
11 schimke immunoosseous dysplasia 10.1 SMARCA4 SMARCA2
12 floating-harbor syndrome 10.1 SMARCA4 SMARCA2
13 alpha thalassemia-x-linked intellectual disability syndrome 10.1 SMARCA4 SMARCA2
14 epilepsy, familial temporal lobe, 1 10.1 SMARCA4 SMARCA2
15 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0 SMARCA4 SMARCA2
16 uv-sensitive syndrome 10.0 SMARCA4 SMARCA2
17 chromosome 16p13.3 deletion syndrome, proximal 10.0 SMARCA4 SMARCA2
18 cartilage-hair hypoplasia 10.0 SMARCA4 SMARCA2
19 immunodeficiency-centromeric instability-facial anomalies syndrome 10.0 SMARCA4 SMARCA2
20 charge syndrome 10.0 SMARCA4 SMARCA2
21 kidney rhabdoid cancer 9.9 SMARCB1 SMARCA4
22 spinal canal and spinal cord meningioma 9.9 SMARCB1 SMARCA4
23 spinal meningioma 9.9 SMARCB1 SMARCA4
24 ventricular septal defect 9.9 SMARCA4 SALL4
25 ovarian small cell carcinoma 9.9 SMARCB1 SMARCA4
26 choroid plexus cancer 9.9 SMARCB1 SMARCA4
27 atrial heart septal defect 9.9 SMARCA4 ACTL6A
28 infratentorial cancer 9.8 SMARCB1 SMARCA4
29 epithelioid sarcoma 9.8 SMARCB1 SALL4
30 atypical teratoid rhabdoid tumor 9.8 SMARCB1 SMARCA4
31 primary hyperoxaluria 9.8 SMARCA4 SMARCA2 BANF1
32 synovium cancer 9.7 SMARCB1 BANF1
33 juvenile type testicular granulosa cell tumor 9.7 SMARCB1 SMARCA4 SMARCA2
34 testicular granulosa cell tumor 9.7 SMARCB1 SMARCA4 SMARCA2
35 retinoblastoma 9.5 SMARCB1 SMARCA4 SMARCA2
36 hypertrichosis 9.5 SMARCB1 SMARCA4
37 sarcoma, synovial 9.5 SMARCB1 BANF1
38 non-syndromic intellectual disability 9.3 SMARCB1 SMARCA4 SMARCA2 BANF1
39 coffin-siris syndrome 1 9.3 SMARCB1 SMARCA4 SMARCA2 BANF1
40 clark-baraitser syndrome 9.1 SMARCB1 SMARCA4 SMARCA2 BANF1 ACTL6A
41 neurilemmomatosis 9.1 SMARCB1 SMARCA4 SMARCA2 BANF1 ACTL6A
42 autosomal dominant non-syndromic intellectual disability 9.0 SMARCB1 SMARCA4 SMARCA2 BANF1 ACTL6A

Graphical network of the top 20 diseases related to Smarca4-Deficient Sarcoma of Thorax:



Diseases related to Smarca4-Deficient Sarcoma of Thorax

Symptoms & Phenotypes for Smarca4-Deficient Sarcoma of Thorax

GenomeRNAi Phenotypes related to Smarca4-Deficient Sarcoma of Thorax according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.1 ACTL6A BANF1 SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-3 9.1 ACTL6A
3 Increased Nanog expression GR00371-A-5 9.1 BANF1

MGI Mouse Phenotypes related to Smarca4-Deficient Sarcoma of Thorax:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 SALL4 SMARCA2 SMARCA4 SMARCB1

Drugs & Therapeutics for Smarca4-Deficient Sarcoma of Thorax

Search Clinical Trials , NIH Clinical Center for Smarca4-Deficient Sarcoma of Thorax

Genetic Tests for Smarca4-Deficient Sarcoma of Thorax

Anatomical Context for Smarca4-Deficient Sarcoma of Thorax

Publications for Smarca4-Deficient Sarcoma of Thorax

Articles related to Smarca4-Deficient Sarcoma of Thorax:

# Title Authors PMID Year
1
Cytology of SMARCA4-Deficient Thoracic Neoplasms: Comparative Analysis of SMARCA4-Deficient Non-Small Cell Lung Carcinomas and SMARCA4-Deficient Thoracic Sarcomas. 61
32854100 2021
2
Cutaneous metastasis of SMARCA4-deficient thoracic sarcoma: A diagnostic dilemma with therapeutic implications. 61
31995235 2020
3
SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Review of Literature. 61
31382829 2020
4
Cytopathological Features of SMARCA4-Deficient Thoracic Sarcoma: Report of 2 Cases and Review of the Literature. 61
31448657 2020
5
Exceptionally rapid response to pembrolizumab in a SMARCA4-deficient thoracic sarcoma overexpressing PD-L1: A case report. 61
31617320 2019
6
Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients. 61
30762113 2019
7
Patients with SMARCA4-deficient thoracic sarcoma and severe skeletal-related events. 61
31097095 2019
8
SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. 61
30451731 2019

Variations for Smarca4-Deficient Sarcoma of Thorax

Expression for Smarca4-Deficient Sarcoma of Thorax

Search GEO for disease gene expression data for Smarca4-Deficient Sarcoma of Thorax.

Pathways for Smarca4-Deficient Sarcoma of Thorax

Pathways related to Smarca4-Deficient Sarcoma of Thorax according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 SMARCB1 SMARCA4 SMARCA2 ACTL6A
2
Show member pathways
12.47 SMARCB1 SMARCA4 SMARCA2 ACTL6A
3
Show member pathways
12.12 SMARCB1 SMARCA4 SMARCA2 ACTL6A
4 11.95 SMARCB1 SMARCA4 SMARCA2
5
Show member pathways
11.67 SMARCB1 SMARCA4 SMARCA2
6 11.35 SMARCA4 SALL4
7 11.15 SMARCB1 SMARCA4
8
Show member pathways
11.05 SMARCB1 SMARCA4 SMARCA2
9
Show member pathways
10.77 SMARCB1 SMARCA4 SMARCA2 ACTL6A

GO Terms for Smarca4-Deficient Sarcoma of Thorax

Cellular components related to Smarca4-Deficient Sarcoma of Thorax according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.88 SMARCB1 SMARCA4 SMARCA2 SALL4 BANF1 ACTL6A
2 nucleoplasm GO:0005654 9.8 SMARCB1 SMARCA4 SMARCA2 SALL4 BANF1 ACTL6A
3 chromatin GO:0000785 9.67 SMARCB1 SMARCA4 SMARCA2 ACTL6A
4 protein-containing complex GO:0032991 9.56 SMARCB1 SMARCA4 SALL4 ACTL6A
5 nBAF complex GO:0071565 9.33 SMARCB1 SMARCA4 SMARCA2
6 SWI/SNF complex GO:0016514 9.26 SMARCB1 SMARCA4 SMARCA2 ACTL6A
7 npBAF complex GO:0071564 8.92 SMARCB1 SMARCA4 SMARCA2 ACTL6A

Biological processes related to Smarca4-Deficient Sarcoma of Thorax according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 SMARCB1 SMARCA4 SMARCA2 SALL4 ACTL6A
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.83 SMARCB1 SMARCA4 SMARCA2 SALL4
3 chromatin organization GO:0006325 9.69 SMARCB1 SMARCA4 ACTL6A
4 nervous system development GO:0007399 9.67 SMARCB1 SMARCA4 SMARCA2 ACTL6A
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.54 SMARCB1 SMARCA4
6 nucleosome disassembly GO:0006337 9.49 SMARCB1 SMARCA4
7 positive regulation by host of viral transcription GO:0043923 9.46 SMARCB1 SMARCA4
8 neural retina development GO:0003407 9.43 SMARCA4 ACTL6A
9 DNA integration GO:0015074 9.4 SMARCB1 BANF1
10 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.32 SMARCB1 SMARCA4
11 RNA polymerase I preinitiation complex assembly GO:0001188 9.26 SMARCB1 SMARCA4
12 chromatin remodeling GO:0006338 9.26 SMARCB1 SMARCA4 SMARCA2 ACTL6A
13 positive regulation of glucose mediated signaling pathway GO:1902661 9.16 SMARCB1 SMARCA4
14 ATP-dependent chromatin remodeling GO:0043044 8.92 SMARCB1 SMARCA4 SMARCA2 ACTL6A

Molecular functions related to Smarca4-Deficient Sarcoma of Thorax according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.77 SMARCB1 SMARCA4 SMARCA2 SALL4 BANF1
2 protein N-terminus binding GO:0047485 9.46 SMARCA4 BANF1
3 p53 binding GO:0002039 9.43 SMARCB1 SMARCA4
4 DNA-dependent ATPase activity GO:0008094 9.4 SMARCA4 SMARCA2
5 Tat protein binding GO:0030957 9.32 SMARCB1 SMARCA4
6 hydrolase activity, acting on acid anhydrides GO:0016817 9.26 SMARCA4 SMARCA2
7 transcription coactivator activity GO:0003713 9.26 SMARCB1 SMARCA4 SMARCA2 ACTL6A
8 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.16 SMARCB1 SMARCA4
9 nucleosomal DNA binding GO:0031492 8.8 SMARCB1 SMARCA4 ACTL6A

Sources for Smarca4-Deficient Sarcoma of Thorax

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
Content
Loading form....