MCID: THY107
MIFTS: 37

Thymoma, Familial

Categories: Rare diseases, Cancer diseases, Genetic diseases, Immune diseases, Endocrine 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 thymoma and immunodeficiency with thymoma. 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, skin 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 all 50)
# Related Disease Score Top Affiliating Genes
1 thymoma 33.4 HRAS KIT
2 immunodeficiency with thymoma 12.2
3 spindle cell thymoma 12.1
4 invasive malignant thymoma 12.0
5 cortical thymoma 12.0
6 epithelial malignant thymoma 12.0
7 dendritic cell thymoma 12.0
8 mixed type thymoma 12.0
9 type c thymoma 12.0
10 encapsulated thymoma 12.0
11 combined thymoma 12.0
12 thymoma type b 12.0
13 predominantly cortical thymoma 11.9
14 thymoma type a 11.2
15 thymoma type ab 11.2
16 thymus cancer 10.9
17 ovarian melanoma 9.8 HRAS KIT
18 aggressive digital papillary adenocarcinoma 9.8 HRAS KIT
19 lung adenoid cystic carcinoma 9.8 HRAS KIT
20 vulvar melanoma 9.8 HRAS KIT
21 mixed cell type cancer 9.8 HRAS KIT
22 malignant skin fibrous histiocytoma 9.8 HRAS KIT
23 core binding factor acute myeloid leukemia 9.8 HRAS KIT
24 malignant dermis tumor 9.8 HRAS KIT
25 central nervous system melanocytic neoplasm 9.8 HRAS KIT
26 gastrointestinal system benign neoplasm 9.8 HRAS KIT
27 integumentary system cancer 9.8 HRAS KIT
28 neurofibromatosis, type iv, of riccardi 9.8 HRAS KIT
29 renal cell carcinoma, papillary, 1 9.7 HRAS KIT
30 uterine carcinosarcoma 9.7 HRAS KIT
31 cell type cancer 9.7 HRAS KIT
32 gastrointestinal system cancer 9.7 HRAS KIT
33 skin melanoma 9.7 HRAS KIT
34 graves' disease 9.7
35 mediastinal cancer 9.7
36 hyperthyroidism 9.7
37 mediastinitis 9.7
38 bone marrow cancer 9.7 HRAS KIT
39 adenoid cystic carcinoma 9.7 HRAS KIT
40 myelofibrosis 9.6 HRAS KIT
41 leukemia, chronic myeloid 9.6 HRAS KIT
42 hematologic cancer 9.6 HRAS KIT
43 sarcoma 9.6 HRAS KIT
44 myeloid leukemia 9.6 HRAS KIT
45 adenocarcinoma 9.5 HRAS KIT
46 gastric adenocarcinoma 9.5 HRAS KIT
47 cholangiocarcinoma 9.4 HRAS KIT
48 leukemia, acute myeloid 9.3 HRAS KIT
49 myelodysplastic syndrome 9.2 HRAS KIT
50 endometrial cancer 9.0 HRAS KIT

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, Skin, Thyroid

Publications for Thymoma, Familial

Articles related to Thymoma, Familial:

# Title Authors Year
1
Spindle cell thymic carcinoma: clinicopathologic and immunohistochemical study of a distinctive variant of primary thymic epithelial neoplasm. ( 10366152 )
1999
2
Primary thymic epithelial neoplasms showing combined features of thymoma and thymic carcinoma. A clinicopathologic study of 22 cases. ( 8944040 )
1996

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 GRCh38 Chromosome 4, 54727437: 54727437
10 KIT NM_000222.2(KIT): c.1669T> C (p.Trp557Arg) single nucleotide variant Likely pathogenic rs121913235 GRCh37 Chromosome 4, 55593603: 55593603
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 9.4 HRAS KIT
2 positive regulation of gene expression GO:0010628 9.37 HRAS KIT
3 MAPK cascade GO:0000165 9.32 HRAS KIT
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.26 HRAS KIT
5 positive regulation of cell migration GO:0030335 9.16 HRAS KIT
6 positive regulation of MAPK cascade GO:0043410 8.96 HRAS KIT
7 positive regulation of MAP kinase activity GO:0043406 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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