MCID: THY107
MIFTS: 48

Thymoma, Familial

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thymoma, Familial

MalaCards integrated aliases for Thymoma, Familial:

Name: Thymoma, Familial 57 73
Thymoma 59 73
Primary Thymic Epithelial Neoplasm 59
Primary Thymic Epithelial Tumor 59
Thymic Neoplasia 57
Thymus Neoplasms 73

Characteristics:

Orphanet epidemiological data:

59
thymoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
thymoma, familial:
Inheritance somatic mutation autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 274230
Orphanet 59 ORPHA99867
MESH via Orphanet 45 D013945
UMLS via Orphanet 74 C0040100
ICD10 via Orphanet 34 D38.4 D15.0
MedGen 42 C1848814

Summaries for Thymoma, Familial

OMIM : 57 Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare. (274230)

MalaCards based summary : Thymoma, Familial, also known as thymoma, is related to sarcoma and adenocarcinoma. An important gene associated with Thymoma, Familial is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include thymus, thyroid and lung, and related phenotypes are ptosis and diplopia

Related Diseases for Thymoma, Familial

Diseases in the Thymoma family:

Thymoma, Familial Invasive Malignant Thymoma
Type C Thymoma Malignant Type Ab Thymoma
Malignant Type a Thymoma Thymoma Type a
Thymoma Type B Thymoma Type Ab

Diseases related to Thymoma, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 324)
# Related Disease Score Top Affiliating Genes
1 sarcoma 30.0 HRAS KIT
2 adenocarcinoma 29.6 HRAS KIT
3 carcinosarcoma 29.5 HRAS KIT
4 thymoma 29.5 HRAS KIT
5 thyroid cancer 29.1 HRAS KIT
6 immunodeficiency with thymoma 12.4
7 spindle cell thymoma 12.2
8 invasive malignant thymoma 12.2
9 cortical thymoma 12.2
10 predominantly cortical thymoma 12.2
11 epithelial malignant thymoma 12.2
12 dendritic cell thymoma 12.2
13 mixed type thymoma 12.2
14 type c thymoma 12.2
15 encapsulated thymoma 12.1
16 combined thymoma 12.1
17 thymoma type b 12.1
18 malignant type ab thymoma 12.0
19 noninvasive malignant thymoma 12.0
20 malignant type a thymoma 12.0
21 thymoma type a 12.0
22 thymoma type ab 12.0
23 good syndrome 11.9
24 thymoma, childhood 11.9
25 myasthenia gravis 11.6
26 pure red-cell aplasia 11.5
27 acquired pure red cell aplasia 11.4
28 thymic epithelial tumor 11.3
29 thymus cancer 11.1
30 limbic encephalitis with lgi1 antibodies 11.1
31 myasthenia gravis congenital 10.8
32 agammaglobulinemia 10.4
33 encephalitis 10.3
34 pemphigus 10.3
35 lymphoma 10.3
36 myocarditis 10.2
37 limbic encephalitis 10.2
38 candidiasis 10.2
39 polymyositis 10.2
40 myositis 10.2
41 stiff-person syndrome 10.1
42 lymphocytic leukemia 10.1
43 lupus erythematosus 10.1
44 lichen planus 10.1
45 paraneoplastic pemphigus 10.1
46 systemic lupus erythematosus 10.1
47 lung cancer 10.1
48 graft-versus-host disease 10.1
49 leukemia 10.1
50 chronic mucocutaneous candidiasis 10.1

Graphical network of the top 20 diseases related to Thymoma, Familial:



Diseases related to Thymoma, Familial

Symptoms & Phenotypes for Thymoma, Familial

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency

Neoplasia:
thymoma

Immunology:
thymoma


Clinical features from OMIM:

274230

Human phenotypes related to Thymoma, Familial:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 Frequent (79-30%)
2 diplopia 59 Frequent (79-30%)
3 dysphagia 59 Frequent (79-30%)
4 respiratory insufficiency 32 HP:0002093
5 arthritis 59 Occasional (29-5%)
6 fatigue 59 Frequent (79-30%)
7 dyspnea 59 Frequent (79-30%)
8 pancytopenia 59 Occasional (29-5%)
9 hemolytic anemia 59 Occasional (29-5%)
10 neoplasm 32 HP:0002664
11 limitation of joint mobility 59 Occasional (29-5%)
12 abnormality of the pleura 59 Occasional (29-5%)
13 alopecia 59 Occasional (29-5%)
14 thyroiditis 59 Occasional (29-5%)
15 decreased antibody level in blood 59 Occasional (29-5%)
16 nephrotic syndrome 59 Occasional (29-5%)
17 keratoconjunctivitis sicca 59 Occasional (29-5%)
18 xerostomia 59 Occasional (29-5%)
19 chest pain 59 Frequent (79-30%)
20 thymoma 32 HP:0100522
21 pericarditis 59 Occasional (29-5%)
22 myocarditis 59 Occasional (29-5%)
23 skin rash 59 Occasional (29-5%)
24 cough 59 Frequent (79-30%)
25 lymphadenopathy 59 Frequent (79-30%)
26 myositis 59 Occasional (29-5%)
27 b lymphocytopenia 59 Occasional (29-5%)
28 fatigable weakness 59 Frequent (79-30%)
29 abnormality of the peritoneum 59 Occasional (29-5%)
30 neoplasm of the thymus 59 Very frequent (99-80%)
31 interstitial pulmonary abnormality 59 Frequent (79-30%)
32 abnormality of the mediastinum 59 Very frequent (99-80%)
33 abnormality of lymphocytes 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Thymoma, Familial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.23 HRAS
2 Decreased viability GR00221-A-1 9.23 HRAS KIT
3 Decreased viability GR00221-A-2 9.23 HRAS
4 Decreased viability GR00221-A-3 9.23 HRAS
5 Decreased viability GR00301-A 9.23 KIT
6 Decreased viability GR00402-S-2 9.23 HRAS KIT

Drugs & Therapeutics for Thymoma, Familial

Search Clinical Trials , NIH Clinical Center for Thymoma, Familial

Genetic Tests for Thymoma, Familial

Anatomical Context for Thymoma, Familial

MalaCards organs/tissues related to Thymoma, Familial:

41
Thymus, Thyroid, Lung, T Cells, Bone, Skin, Bone Marrow

Publications for Thymoma, Familial

Articles related to Thymoma, Familial:

(show top 50) (show all 378)
# Title Authors Year
1
Selected Case From the Arkadi M. Rywlin International Pathology Slide Seminar: Atypical Thymoma With Rhabdomyomatous Differentiation. ( 30300145 )
2019
2
Porous diaphragm syndrome with recurrent thymoma. ( 30519470 )
2019
3
Spontaneous rupture of thymoma. ( 30533378 )
2019
4
Concurrent renal amyloidosis and thymoma resulting in a fatal ventricular thrombus in a dog. ( 29485186 )
2018
5
Aplastic Anemia as an Immune-mediated Complication of Thymoma: A Case Report. ( 29668540 )
2018
6
Thymoma and Limbic Encephalitis: A Dangerous Liaison. ( 30277673 )
2018
7
Expanding Spectrum of Toxoplasma gondii: Thymoma and Toxoplasmic Encephalitis. ( 30038930 )
2018
8
Clinical Relapse of Anti-AMPAR Encephalitis Associated with Recurrence of Thymoma. ( 29225271 )
2018
9
Good syndrome: immunodeficiency associated with thymoma. ( 29984501 )
2018
10
Agranulocytosis and Good Syndrome in Patient with Thymoma-The Role of Immunosuppressive Treatment after Thymectomy. ( 30166018 )
2018
11
Case of thymoma-associated cutaneous graft-versus-host disease-like disease successfully improved by narrowband ultraviolet B phototherapy. ( 29215146 )
2018
12
False-Positive Results in 18F-Fluorocholine PET/CT for a Thymoma in Workup of a Hereditary Primary Hyperparathyroidism. ( 29538025 )
2018
13
T-lymphoblastic lymphoma after previous thymoma: how NGS helps establishing the diagnosis and procures new insights. ( 30301393 )
2018
14
Value of CT spectral imaging in the differential diagnosis of thymoma and mediastinal lymphoma. ( 30507309 )
2018
15
Distinguishing thymoma from T-lymphoblastic leukaemia/lymphoma: a case-based evaluation. ( 30467242 )
2018
16
Hypermetabolic lesion in the prevascular mediastinum - always a thymoma/lymphoma? ( 30270797 )
2018
17
Complete excision of acute necrotic regression of thymoma mimicking an infected mediastinal cyst with mediastinitis using video-assisted thoracoscopic technique. ( 29997995 )
2018
18
Myasthenia Gravis and Thymoma Surgery: A Clinical Update for the Cardiothoracic Anesthesiologist. ( 30219643 )
2018
19
Comparative study of video-assisted thoracoscopic surgery versus open thymectomy for thymoma and myasthenia gravis. ( 30302151 )
2018
20
Giant cell myositis associated with myasthenia gravis and thymoma. ( 29523340 )
2018
21
Value of Adjuvant Radiotherapy for Thymoma with Myasthenia Gravis after Extended Thymectomy. ( 29664052 )
2018
22
Myasthenia Gravis With Thymoma, Manifesting as AChR-Ab-Positive, Distinct Bulbar Palsy Accompanied by Dysgeusia: A Case Series and Review of Literature. ( 29670572 )
2018
23
Myasthenia gravis as a prognostic marker in patients with thymoma. ( 29997948 )
2018
24
Inter-relationship among myasthenia gravis, WHO histology, and Masaoka clinical stage and effect on surgical methods in patients with thymoma: a retrospective cohort study. ( 29997965 )
2018
25
Progressive peripheral CD8+ T lymphocytosis complicated by pure red cell aplasia following immunosuppressive therapy for thymoma-associated myasthenia gravis. ( 30056258 )
2018
26
Fatal myocarditis and rhabdomyolysis induced by nivolumab during the treatment of type B3 thymoma. ( 29126352 )
2018
27
Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1. ( 30185415 )
2018
28
Pure red cell aplasia associated with thymoma: a report of a single-center experience. ( 30233881 )
2018
29
Use of veno-venous extracorporeal life support in a patient with cytomegalovirus and Pneumocystis jiroveci related respiratory failure due to thymoma associated immunodeficiency: a case report. ( 30505513 )
2018
30
A Phase II Study of Pemetrexed in Patients with Recurrent Thymoma and Thymic Carcinoma. ( 30121390 )
2018
31
FDG-PET/CT of invasive thymoma extending into the superior vena cava and right atrium. ( 30128918 )
2018
32
Multislice computed tomography performance in differential diagnosis of high-density thymic cyst and thymoma in lesions less than 3 cm. ( 30133184 )
2018
33
Identification of Long Non-Coding RNAs for Predicting Prognosis Among Patients with Thymoma. ( 30146820 )
2018
34
Invasive thymoma with multiple ring calcifications and osseous metaplasia: A case report. ( 30168289 )
2018
35
Is thymomectomy equivalent to complete thymectomy in non-myasthenic patients with early-stage thymoma? ( 30188996 )
2018
36
Pleural thymoma: Radiological and histological findings. ( 30191163 )
2018
37
Mixed Thymoma in an American Robin ( Turdus migratorius). ( 30204023 )
2018
38
Clinical and laboratory features of seventy-eight UK patients with Good's syndrome (thymoma and hypogammaglobulinaemia). ( 30216434 )
2018
39
Long-term outcomes of advanced thymoma in patients undergoing preoperative chemotherapy or chemoradiotherapy followed by surgery: a 20-year experience. ( 30256943 )
2018
40
Dosimetric comparison of advanced radiotherapy approaches using photon techniques and particle therapy in the postoperative management of thymoma. ( 30264630 )
2018
41
Lipofibroadenoma with B1 thymoma: A case report of a rare thymic tumor. ( 30303172 )
2018
42
Clinicopathological Features of Thymoma with the Expression of Programmed Death-Ligand 1. ( 30312607 )
2018
43
A novel prognostic signature of seven genes for the prediction in patients with thymoma. ( 30328513 )
2018
44
Whether Thymoma Patients in Myasthenia Crisis Could Benefit from Immediate Resection of Tumor Compared with Selective Surgery after Stabilization of MC. ( 30381639 )
2018
45
Efficacy and toxicities of gemcitabine and cisplatin combined with endostar in advanced thymoma and thymic carcinoma. ( 30411854 )
2018
46
Different pattern of PD-L1, IDO, and FOXP3 Tregs expression with survival in thymoma and thymic carcinoma. ( 30429036 )
2018
47
Extended pleurectomy decortication for thymoma with pleural dissemination. ( 30448972 )
2018
48
Assessment of the prognostic role of neutrophil-to-lymphocyte ratio following complete resection of thymoma. ( 30454002 )
2018
49
Systemic treatments for thymoma and thymic carcinoma: A systematic review. ( 30527189 )
2018
50
Complete remission of pure white cell aplasia associated with thymoma after thymectomy and cyclosporine administration. ( 30535832 )
2018

Variations for Thymoma, Familial

ClinVar genetic disease variations for Thymoma, Familial:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
2 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh38 Chromosome 4, 54727444: 54727444
3 HRAS NM_005343.3(HRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894226 GRCh38 Chromosome 11, 534285: 534285
4 HRAS NM_005343.3(HRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894226 GRCh37 Chromosome 11, 534285: 534285
5 KIT NM_000222.2(KIT): c.1468G> A (p.Glu490Lys) single nucleotide variant Pathogenic rs1057519701 GRCh37 Chromosome 4, 55592144: 55592144
6 KIT NM_000222.2(KIT): c.1468G> A (p.Glu490Lys) single nucleotide variant Pathogenic rs1057519701 GRCh38 Chromosome 4, 54725978: 54725978
7 KIT NM_000222.2(KIT): c.1657T> A (p.Tyr553Asn) single nucleotide variant Pathogenic rs1057519704 GRCh37 Chromosome 4, 55593591: 55593591
8 KIT NM_000222.2(KIT): c.1657T> A (p.Tyr553Asn) single nucleotide variant Pathogenic rs1057519704 GRCh38 Chromosome 4, 54727425: 54727425
9 KIT NM_000222.2(KIT): c.1669T> C (p.Trp557Arg) single nucleotide variant Likely pathogenic rs121913235 GRCh37 Chromosome 4, 55593603: 55593603
10 KIT NM_000222.2(KIT): c.1669T> C (p.Trp557Arg) single nucleotide variant Likely pathogenic rs121913235 GRCh38 Chromosome 4, 54727437: 54727437
11 KIT NM_000222.2(KIT): c.1679_1681delTTG (p.Val560del) deletion Pathogenic/Likely pathogenic rs121913685 GRCh37 Chromosome 4, 55593612: 55593614
12 KIT NM_000222.2(KIT): c.1679_1681delTTG (p.Val560del) deletion Pathogenic/Likely pathogenic rs121913685 GRCh38 Chromosome 4, 54727447: 54727449
13 KIT NM_000222.2(KIT): c.1727T> C (p.Leu576Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913513 GRCh37 Chromosome 4, 55593661: 55593661
14 KIT NM_000222.2(KIT): c.1727T> C (p.Leu576Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913513 GRCh38 Chromosome 4, 54727495: 54727495
15 KIT NM_000222.2(KIT): c.1730_1738delCTTATGATC (p.Pro577_Asp579del) deletion Pathogenic rs1131692239 GRCh37 Chromosome 4, 55593664: 55593672
16 KIT NM_000222.2(KIT): c.1730_1738delCTTATGATC (p.Pro577_Asp579del) deletion Pathogenic rs1131692239 GRCh38 Chromosome 4, 54727498: 54727506
17 KIT NM_000222.2(KIT): c.2089C> T (p.His697Tyr) single nucleotide variant Uncertain significance rs763308199 GRCh37 Chromosome 4, 55595599: 55595599
18 KIT NM_000222.2(KIT): c.2089C> T (p.His697Tyr) single nucleotide variant Uncertain significance rs763308199 GRCh38 Chromosome 4, 54729433: 54729433
19 KIT NM_000222.2(KIT): c.2460T> A (p.Asp820Glu) single nucleotide variant Pathogenic rs1057519711 GRCh37 Chromosome 4, 55599334: 55599334
20 KIT NM_000222.2(KIT): c.2460T> A (p.Asp820Glu) single nucleotide variant Pathogenic rs1057519711 GRCh38 Chromosome 4, 54733168: 54733168

Expression for Thymoma, Familial

Search GEO for disease gene expression data for Thymoma, Familial.

Pathways for Thymoma, Familial

Pathways related to Thymoma, Familial according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 HRAS KIT
2 12.22 HRAS KIT
3 12.12 HRAS KIT
4
Show member pathways
12.1 HRAS KIT
5
Show member pathways
12.05 HRAS KIT
6
Show member pathways
12.01 HRAS KIT
7
Show member pathways
11.77 HRAS KIT
8
Show member pathways
11.73 HRAS KIT
9
Show member pathways
11.65 HRAS KIT
10
Show member pathways
11.36 HRAS KIT
11
Show member pathways
10.87 HRAS KIT
12 10.44 HRAS KIT

GO Terms for Thymoma, Familial

Biological processes related to Thymoma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.43 HRAS KIT
2 positive regulation of gene expression GO:0010628 9.4 HRAS KIT
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.37 HRAS KIT
4 positive regulation of cell migration GO:0030335 9.32 HRAS KIT
5 MAPK cascade GO:0000165 9.26 HRAS KIT
6 positive regulation of MAPK cascade GO:0043410 9.16 HRAS KIT
7 positive regulation of MAP kinase activity GO:0043406 8.96 HRAS KIT
8 positive regulation of phospholipase C activity GO:0010863 8.62 HRAS KIT

Molecular functions related to Thymoma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.62 HRAS KIT

Sources for Thymoma, Familial

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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