MCID: THY107
MIFTS: 50

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 58 74
Thymoma 60 74
Primary Thymic Epithelial Neoplasm 60
Primary Thymic Epithelial Tumor 60
Thymic Neoplasia 58
Thymus Neoplasms 74

Characteristics:

Orphanet epidemiological data:

60
thymoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
somatic mutation


HPO:

33
thymoma, familial:
Inheritance somatic mutation autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 274230
MESH via Orphanet 46 D013945
ICD10 via Orphanet 35 D15.0 D38.4
UMLS via Orphanet 75 C0040100
Orphanet 60 ORPHA99867
MedGen 43 C1848814

Summaries for Thymoma, Familial

OMIM : 58 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, t cells and thyroid, 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 372)
# Related Disease Score Top Affiliating Genes
1 sarcoma 30.1 HRAS KIT
2 adenocarcinoma 29.7 HRAS KIT
3 thyroid cancer 29.5 HRAS KIT
4 carcinosarcoma 29.4 HRAS KIT
5 thymoma 29.4 HRAS KIT
6 myelofibrosis 29.3 HRAS KIT
7 bladder urothelial carcinoma 29.1 HRAS KIT
8 myeloma, multiple 29.1 HRAS KIT
9 leukemia, chronic myeloid 29.1 HRAS KIT
10 immunodeficiency with thymoma 12.4
11 spindle cell thymoma 12.2
12 invasive malignant thymoma 12.2
13 cortical thymoma 12.2
14 predominantly cortical thymoma 12.2
15 epithelial malignant thymoma 12.2
16 dendritic cell thymoma 12.2
17 mixed type thymoma 12.2
18 type c thymoma 12.2
19 encapsulated thymoma 12.2
20 combined thymoma 12.2
21 thymoma type b 12.1
22 malignant type ab thymoma 12.0
23 noninvasive malignant thymoma 12.0
24 malignant type a thymoma 12.0
25 thymoma type ab 12.0
26 thymic carcinoma 12.0
27 thymoma type a 12.0
28 good syndrome 11.9
29 thymoma, childhood 11.9
30 myasthenia gravis 11.6
31 pure red-cell aplasia 11.5
32 acquired pure red cell aplasia 11.4
33 morvan's fibrillary chorea 11.4
34 thymic epithelial tumor 11.3
35 thymus cancer 11.1
36 limbic encephalitis with lgi1 antibodies 11.1
37 myasthenia gravis congenital 11.0
38 lymphoma 10.4
39 encephalitis 10.4
40 pemphigus 10.4
41 agammaglobulinemia 10.3
42 lupus erythematosus 10.3
43 systemic lupus erythematosus 10.3
44 leukemia 10.3
45 myocarditis 10.3
46 polymyositis 10.3
47 myositis 10.3
48 candidiasis 10.3
49 limbic encephalitis 10.2
50 lichen planus 10.2

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



Diseases related to Thymoma, Familial

Symptoms & Phenotypes for Thymoma, Familial

Human phenotypes related to Thymoma, Familial:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 Frequent (79-30%)
2 diplopia 60 Frequent (79-30%)
3 dysphagia 60 Frequent (79-30%)
4 respiratory insufficiency 33 HP:0002093
5 arthritis 60 Occasional (29-5%)
6 fatigue 60 Frequent (79-30%)
7 dyspnea 60 Frequent (79-30%)
8 pancytopenia 60 Occasional (29-5%)
9 hemolytic anemia 60 Occasional (29-5%)
10 neoplasm 33 HP:0002664
11 limitation of joint mobility 60 Occasional (29-5%)
12 abnormality of the pleura 60 Occasional (29-5%)
13 alopecia 60 Occasional (29-5%)
14 thyroiditis 60 Occasional (29-5%)
15 decreased antibody level in blood 60 Occasional (29-5%)
16 nephrotic syndrome 60 Occasional (29-5%)
17 keratoconjunctivitis sicca 60 Occasional (29-5%)
18 xerostomia 60 Occasional (29-5%)
19 chest pain 60 Frequent (79-30%)
20 thymoma 33 HP:0100522
21 pericarditis 60 Occasional (29-5%)
22 myocarditis 60 Occasional (29-5%)
23 skin rash 60 Occasional (29-5%)
24 cough 60 Frequent (79-30%)
25 lymphadenopathy 60 Frequent (79-30%)
26 myositis 60 Occasional (29-5%)
27 b lymphocytopenia 60 Occasional (29-5%)
28 fatigable weakness 60 Frequent (79-30%)
29 abnormality of the peritoneum 60 Occasional (29-5%)
30 neoplasm of the thymus 60 Very frequent (99-80%)
31 interstitial pulmonary abnormality 60 Frequent (79-30%)
32 abnormality of the mediastinum 60 Very frequent (99-80%)
33 abnormality of lymphocytes 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency

Neoplasia:
thymoma

Immunology:
thymoma

Clinical features from OMIM:

274230

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

27
# 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:

42
Thymus, T Cells, Thyroid, Bone, B Cells, Lymph Node, Skin

Publications for Thymoma, Familial

Articles related to Thymoma, Familial:

(show top 50) (show all 1926)
# Title Authors Year
1
Oral lichen planus and lichen planopilaris complicated with thymoma. ( 30758883 )
2019
2
Thoracoscopic Thymectomy for Large Thymic Cyst: Myasthenia Gravis With Thymoma Concealed by Thymic Cyst. ( 30801391 )
2019
3
Case 261: Thymoma Embedded in Thymus with Pleural Implant in Myasthenia Gravis Lambert-Eaton Overlap Syndrome. ( 30571477 )
2019
4
Altered naive CD4+ T cell homeostasis in myasthenia gravis and thymoma patients. ( 30686546 )
2019
5
Inflammatory myopathy with myasthenia gravis: Thymoma association and polymyositis pathology. ( 30697585 )
2019
6
Eculizumab improved weakness and taste disorder in thymoma-associated generalized myasthenia gravis with anti-striational antibodies: A case report. ( 30705973 )
2019
7
Acquired neuromyotonia in thymoma-associated myasthenia gravis: a clinical and serological study. ( 30714278 )
2019
8
Occurrence of acute pulmonary embolism induced by recombinant erythropoietin during treatment of pure red cell aplasia associated with thymoma: A case report. ( 30855492 )
2019
9
Case report on intravenous octreotide for the treatment of intraoperative vasoplegia following thymoma resection. ( 30800305 )
2019
10
Multilobulated thymoma with an acute angle: a new predictor of lung invasion. ( 30809718 )
2019
11
Genome‑wide DNA methylation profile of thymomas and potential epigenetic regulation of thymoma subtypes. ( 30816514 )
2019
12
Xanthomatous Thymoma. ( 30816919 )
2019
13
Paraneoplastic relapsing minimal change disease associated with type A thymoma in an elderly patient: A case report and literature review. ( 30846674 )
2019
14
Micronodular thymoma with lymphoid stroma diagnosed 10 years after the first operation: a case report. ( 30876482 )
2019
15
A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma. ( 30908751 )
2019
16
Selected Case From the Arkadi M. Rywlin International Pathology Slide Seminar: Atypical Thymoma With Rhabdomyomatous Differentiation. ( 30300145 )
2019
17
Clinicopathologic Features of Thymoma With the Expression of Programmed Death Ligand 1. ( 30312607 )
2019
18
A novel prognostic signature of seven genes for the prediction in patients with thymoma. ( 30328513 )
2019
19
Porous diaphragm syndrome with recurrent thymoma. ( 30519470 )
2019
20
Spontaneous rupture of thymoma. ( 30533378 )
2019
21
Thymoma-associated graft-versus-host-like disease treated with high-dose i.v. immunoglobulin. ( 30656720 )
2019
22
Subxiphoid versus lateral intercostal approaches thoracoscopic thymectomy for non-myasthenic early-stage thymoma: A propensity score -matched analysis. ( 30677529 )
2019
23
Multimodality therapy for thymoma patients with pleural dissemination. ( 30725276 )
2019
24
Type B3 thymoma with marked neuroendocrine differentiation: Report of a case. ( 30746146 )
2019
25
A case of ectopic hamartomatous thymoma: controversy over the designation. ( 30778769 )
2019
26
Resected case of giant cystic thymoma with spontaneous intracystic hemorrhage. ( 30783828 )
2019
27
Lifesaving surgery for a ruptured invasive thymoma using the hemi-clamshell approach: a case report. ( 30783830 )
2019
28
Genetic characterization of thymoma. ( 30787364 )
2019
29
Concurrent renal amyloidosis and thymoma resulting in a fatal ventricular thrombus in a dog. ( 29485186 )
2018
30
Aplastic Anemia as an Immune-mediated Complication of Thymoma: A Case Report. ( 29668540 )
2018
31
Thymoma-associated Myasthenia Gravis in a Young Adult with Development of Paraneoplastic Limbic Encephalitis and Systemic Lupus Erythematosus Post-thymectomy: A Case Report. ( 30656085 )
2018
32
Thymoma and Limbic Encephalitis: A Dangerous Liaison. ( 30277673 )
2018
33
Expanding Spectrum of Toxoplasma gondii: Thymoma and Toxoplasmic Encephalitis. ( 30038930 )
2018
34
Clinical Relapse of Anti-AMPAR Encephalitis Associated with Recurrence of Thymoma. ( 29225271 )
2018
35
Good syndrome: immunodeficiency associated with thymoma. ( 29984501 )
2018
36
Agranulocytosis and Good Syndrome in Patient with Thymoma-The Role of Immunosuppressive Treatment after Thymectomy. ( 30166018 )
2018
37
Case of thymoma-associated cutaneous graft-versus-host disease-like disease successfully improved by narrowband ultraviolet B phototherapy. ( 29215146 )
2018
38
False-Positive Results in 18F-Fluorocholine PET/CT for a Thymoma in Workup of a Hereditary Primary Hyperparathyroidism. ( 29538025 )
2018
39
Secondary Thymoma among Adult Treated For Acute Lymphoblastic Lymphoma/Leukemia: Report of a Case and Review of the Literature. ( 30607194 )
2018
40
T-lymphoblastic lymphoma after previous thymoma: how NGS helps establishing the diagnosis and procures new insights. ( 30301393 )
2018
41
Value of CT spectral imaging in the differential diagnosis of thymoma and mediastinal lymphoma. ( 30507309 )
2018
42
Distinguishing thymoma from T-lymphoblastic leukaemia/lymphoma: a case-based evaluation. ( 30467242 )
2018
43
Hypermetabolic lesion in the prevascular mediastinum - always a thymoma/lymphoma? ( 30270797 )
2018
44
Complete excision of acute necrotic regression of thymoma mimicking an infected mediastinal cyst with mediastinitis using video-assisted thoracoscopic technique. ( 29997995 )
2018
45
Effect of Diaphragm Plication in Thymoma Patients with and without Myasthenia Gravis. ( 30915134 )
2018
46
Myasthenia Gravis and Thymoma Surgery: A Clinical Update for the Cardiothoracic Anesthesiologist. ( 30219643 )
2018
47
Comparative study of video-assisted thoracoscopic surgery versus open thymectomy for thymoma and myasthenia gravis. ( 30302151 )
2018
48
Giant cell myositis associated with myasthenia gravis and thymoma. ( 29523340 )
2018
49
Value of Adjuvant Radiotherapy for Thymoma with Myasthenia Gravis after Extended Thymectomy. ( 29664052 )
2018
50
Myasthenia Gravis With Thymoma, Manifesting as AChR-Ab-Positive, Distinct Bulbar Palsy Accompanied by Dysgeusia: A Case Series and Review of Literature. ( 29670572 )
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 HRAS NM_005343.3(HRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894226 GRCh38 Chromosome 11, 534285: 534285
2 HRAS NM_005343.3(HRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894226 GRCh37 Chromosome 11, 534285: 534285
3 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh37 Chromosome 4, 55593610: 55593610
4 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 GRCh38 Chromosome 4, 54727444: 54727444
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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