MCID: THY003
MIFTS: 33

Thymic Dysplasia

Categories: Endocrine diseases, Immune diseases

Aliases & Classifications for Thymic Dysplasia

MalaCards integrated aliases for Thymic Dysplasia:

Name: Thymic Dysplasia 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:7350
NCIt 51 C27802
UMLS 74 C1331541

Summaries for Thymic Dysplasia

MalaCards based summary : Thymic Dysplasia is related to immune defect due to absence of thymus and lymphopenia. An important gene associated with Thymic Dysplasia is FOXN1 (Forkhead Box N1), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include t cells, bone marrow and nk cells, and related phenotypes are endocrine/exocrine gland and digestive/alimentary

Related Diseases for Thymic Dysplasia

Diseases related to Thymic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 immune defect due to absence of thymus 33.2 CD2 FOXN1 PNP
2 lymphopenia 29.9 FOXP3 IL2RG IL7
3 delusional disorder 10.2 HLA-A PNP
4 purine nucleoside phosphorylase deficiency 10.2 ADA PNP
5 specific bursitis often of occupational origin 10.2 CD2 PNP
6 agammaglobulinemia 10.2
7 adenosine deaminase deficiency 10.2 ADA IL2RG PNP
8 natural killer cell leukemia 10.2 CD2 IL7
9 t cell deficiency 10.2 CD2 FOXN1 PNP
10 olecranon bursitis 10.2 CD2 PNP
11 caplan's syndrome 10.1 FOXP3 HLA-A
12 jak3-deficient severe combined immunodeficiency 10.1 IL15 IL9
13 postencephalitic parkinson disease 10.1 HLA-A SNCA
14 interleukin-7 receptor alpha deficiency 10.1 IL2RG IL7
15 omenn syndrome 10.0 ADA FOXP3 IL2RG
16 severe combined immunodeficiency, x-linked 10.0 ADA IL2RG IL7 IL9
17 molybdenum cofactor deficiency, complementation group a 10.0 ADA PNP
18 inflammatory bowel disease 16 9.9 CD2 CD7
19 leukemia, acute lymphoblastic 3 9.9 CXCR5 IKZF1 IL7
20 graft-versus-host disease 9.9
21 eosinophilic gastritis 9.9 FOXP3 IL15
22 combined t cell and b cell immunodeficiency 9.9 ADA IL15 IL2RG IL7
23 aplastic anemia 9.8
24 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
25 ectodermal dysplasia 9.8
26 colorectal adenocarcinoma 9.8
27 immunoglobulin alpha deficiency 9.8
28 heart disease 9.8
29 dysgammaglobulinemia 9.8
30 hemolytic-uremic syndrome 9.8
31 candidiasis 9.8
32 adenocarcinoma 9.8
33 acquired immunodeficiency syndrome 9.8
34 measles 9.8
35 dwarfism 9.8
36 t-cell adult acute lymphocytic leukemia 9.7 CD2 CD7 FOXP3
37 precursor t-cell acute lymphoblastic leukemia 9.7 CD7 IKZF1 IL2RG IL7
38 chronic nk-cell lymphocytosis 9.7 CD2 CD7 IL15
39 mycosis fungoides 9.6 CD7 IL15 IL7
40 severe combined immunodeficiency 9.6 ADA IL15 IL2RG IL7 IL9 PNP
41 sezary's disease 9.5 CD2 CD7 IL15 IL7
42 lymphoma, non-hodgkin, familial 9.3 CD7 CXCR5 IL15 IL9
43 hematologic cancer 9.1 ADA CD2 CD7 HLA-A IKZF1 IL7

Graphical network of the top 20 diseases related to Thymic Dysplasia:



Diseases related to Thymic Dysplasia

Symptoms & Phenotypes for Thymic Dysplasia

MGI Mouse Phenotypes related to Thymic Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 ADA CD7 FOXN1 FOXP3 IKZF1 IL15
2 digestive/alimentary MP:0005381 9.87 ADA FOXP3 IKZF1 IL2RG IL9 NTSR1
3 hematopoietic system MP:0005397 9.85 ADA CD7 CXCR5 FOXN1 FOXP3 IKZF1
4 immune system MP:0005387 9.7 ADA CD7 CXCR5 FOXN1 FOXP3 IKZF1
5 normal MP:0002873 9.28 ADA CD2 CXCR5 FOXN1 FOXP3 IL2RG

Drugs & Therapeutics for Thymic Dysplasia

Search Clinical Trials , NIH Clinical Center for Thymic Dysplasia

Genetic Tests for Thymic Dysplasia

Anatomical Context for Thymic Dysplasia

MalaCards organs/tissues related to Thymic Dysplasia:

42
T Cells, Bone Marrow, Nk Cells, Testes, B Cells, Thymus

Publications for Thymic Dysplasia

Articles related to Thymic Dysplasia:

(show all 38)
# Title Authors Year
1
50 Years Ago in The Journal of Pediatrics: Thymic Dysplasia ("Swiss Agammaglobulinemia"). I. Graft Versus Host Reaction following Bone-Marrow Transfusion. ( 28434577 )
2017
2
Autoimmunity associated with chemically induced thymic dysplasia. ( 28992076 )
2017
3
Hemolytic uremic syndrome and thymic dysplasia in an infant. ( 9630044 )
1998
4
Thymic involution with loss of Hassall's corpuscles mimicking thymic dysplasia in a child with transfusion-associated graft-versus-host disease. ( 1866363 )
1991
5
Association between the degree of thymic dysplasia and the kinetics of thymic NK cell activity during the graft-versus-host reaction. ( 3383453 )
1988
6
Thymic dysplasia in acquired immunodeficiency syndrome. ( 6835275 )
1983
7
Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5. ( 6264787 )
1981
8
Adjuvant chemotherapy of human colorectal adenocarcinoma after growth on mice with congenital thymic dysplasia ("nude"). 2. Tumor remission following treatment with 5-FU and VCR of xenotransplanted primary human colorectal adenocarcinomas. ( 7400203 )
1980
9
Thymic involution mimicking thymic dysplasia: a consequence of transfusion-induced graft versus host disease in a premature infant. ( 6892596 )
1980
10
Thymic involution in murine graft-versus-host reaction. Epithelial injury mimicking human thymic dysplasia. ( 18011 )
1977
11
Thymic dysplasia with normal immunoglobulins (Nezelof syndrome): a case report. ( 932589 )
1976
12
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). ( 1052394 )
1976
13
A syndrome of systemic hyalinosis, short-limb dwarfism and possible thymic dysplasia. ( 56200 )
1975
14
Electrophoresis of lymphoid cells. A study of Bruton type of agammaglobulinaemia, thymic dysplasia, chronic lymphatic leukaemia and of normal human thymocytes. ( 1081923 )
1975
15
Thymic dysplasia, persistence of measles virus, and unexpected infant death. ( 1190815 )
1975
16
Pancreatic changes associated with cases of thymic dysplasia. ( 1236127 )
1975
17
Fatal disseminated herpesvirus hominis type 2 infection in an adult with associated thymic dysplasia. ( 4361959 )
1974
18
The lack of effect of transfer factor in thymic dysplasia with immunoglobulin synthesis. ( 4595096 )
1974
19
Hyperactive production of antibody of a boy with thymic dysplasia undergoing graft versus host reaction. ( 4149505 )
1973
20
Liver necrosis, adenovirus type 2 and thymic dysplasia. ( 4354918 )
1973
21
Varicella as the cause of death in an infant affected by lymphopenic thymic dysplasia with dysgammaglobulinemia. ( 4111806 )
1972
22
Thymic dysplasia associated with lymphopenia. ( 4402960 )
1972
23
Comments from the readers: thymic dysplasia associated with lymphopenia. ( 4641095 )
1972
24
Thymic dysplasia associated with dyschondroplasia in an infant. ( 5026207 )
1972
25
Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia. ( 5085483 )
1972
26
Agammaglobulinemia and thymic dysplasia associated with ectodermal dysplasia. ( 5313239 )
1971
27
Swiss type agammaglobulinemia in the United States. Autosomal recessive lymphopenic thymic dysplasia with agammaglobulinemia. ( 5539811 )
1971
28
Severe candidiasis associated with thymic dysplasia, IgA deficiency, and plasma antilyMPHOCYTE EFFECTS. ( 5310312 )
1970
29
Thymic dysplasia. ( 4183538 )
1969
30
Hereditary thymic dysplasia: a graft-versus-host reaction induced by bone marrow cells with a partial 4a series histoincompatibility. ( 4885730 )
1969
31
Thymic dysplasia with immunological deficiency. Report of two unusual cases. ( 5823356 )
1969
32
Clinico-pathological study of thymic dysplasia. ( 4177044 )
1968
33
Lymphocyte studies in congenital thymic dysplasia: The one-way stimulation test. ( 5635802 )
1968
34
Thymic dysplasia ("Swiss agammaglobulinemia"). I. Graft versus host reaction following bone-marrow transfusion. ( 4164455 )
1967
35
Thymic dysplasia. A separable entity from "swiss agammaglobulinemia". ( 5338315 )
1967
36
Thymic dysplasia ("Swiss agammaglobulinemia"). II. Morphologic and functional observations. ( 6022177 )
1967
37
Dissociation of delayed-hypersensitivy and antibody-synthesising capacities in man. Report of two sibships with thymic dysplasia, lymphoid tissue depletion, and normal immunoglobulins. ( 4161068 )
1966
38
Congenital alymphoplasmacytic agammaglobulinemia with thymic dysplasia. ( 5319606 )
1965

Variations for Thymic Dysplasia

Expression for Thymic Dysplasia

Search GEO for disease gene expression data for Thymic Dysplasia.

Pathways for Thymic Dysplasia

Pathways related to Thymic Dysplasia according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 CD2 CXCR5 IL15 IL2RG IL7 IL9
2
Show member pathways
13.12 HLA-A IL15 IL2RG IL7 IL9 XAF1
3
Show member pathways
13.07 CD2 CXCR5 IL15 IL2RG IL7 IL9
4
Show member pathways
12.59 CXCR5 FOXP3 HLA-A IL15 IL9
5 12.29 CD2 CXCR5 FOXP3 IKZF1
6
Show member pathways
12.1 IL15 IL2RG IL7 IL9
7
Show member pathways
12.02 HLA-A IL15 IL9 XAF1
8 11.74 CD2 IL15 IL7
9 11.57 CD2 CD7 IL7
10
Show member pathways
11.57 CD2 IL15 IL2RG IL7 IL9
11
Show member pathways
11.16 IL2RG IL7 IL9
12 11.1 FOXP3 IL2RG IL9
13 11.02 IL15 IL7
14 11 CD7 CXCR5 IKZF1 IL15 IL7 IL9
15 10.99 IL2RG IL7
16 10.9 CD2 IL15 IL7 IL9
17 10.64 IL15 IL7 IL9

GO Terms for Thymic Dysplasia

Cellular components related to Thymic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.26 ADA CD2 CXCR5 IL2RG
2 cell surface GO:0009986 9.02 ADA CD2 HLA-A IL15 NTSR1

Biological processes related to Thymic Dysplasia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.73 ADA IL15 SNCA
2 interleukin-7-mediated signaling pathway GO:0038111 9.55 IL2RG IL7
3 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.54 NTSR1 SNCA
4 T cell homeostasis GO:0043029 9.52 FOXN1 FOXP3
5 positive regulation of T cell differentiation GO:0045582 9.51 ADA IL7
6 lymph node development GO:0048535 9.49 CXCR5 IL15
7 interleukin-15-mediated signaling pathway GO:0035723 9.48 IL15 IL2RG
8 purine-containing compound salvage GO:0043101 9.46 ADA PNP
9 negative regulation of histone acetylation GO:0035067 9.43 FOXP3 SNCA
10 positive regulation of alpha-beta T cell differentiation GO:0046638 9.4 ADA PNP
11 interleukin-9-mediated signaling pathway GO:0038113 9.37 IL2RG IL9
12 regulation of T cell differentiation GO:0045580 9.33 ADA CD2 IL15
13 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.32 NTSR1 SNCA
14 T cell lineage commitment GO:0002360 9.26 FOXN1 IL7
15 T cell activation GO:0042110 9.26 ADA CD2 CD7 FOXP3
16 immune response GO:0006955 9.23 CD7 CXCR5 HLA-A IL15 IL2RG IL7

Molecular functions related to Thymic Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor binding GO:0005126 8.8 IL15 IL7 IL9

Sources for Thymic Dysplasia

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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