MCID: THY003
MIFTS: 34

Thymic Dysplasia

Categories: Endocrine diseases, Immune diseases

Aliases & Classifications for Thymic Dysplasia

MalaCards integrated aliases for Thymic Dysplasia:

Name: Thymic Dysplasia 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:7350
NCIt 50 C27802
UMLS 73 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 bone, bone marrow and heart, and related phenotypes are Reduced mammosphere formation and endocrine/exocrine gland

Related Diseases for Thymic Dysplasia

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 immune defect due to absence of thymus 32.4 CD2 FOXN1
2 lymphopenia 29.9 FOXP3 IL2RG IL7
3 agammaglobulinemia 10.2
4 natural killer cell leukemia 10.1 CD2 IL7
5 severe combined immunodeficiency, x-linked 10.1 IL2RG IL7 IL9
6 htlv-1 associated myelopathy/tropical spastic paraparesis 10.1 FOXP3 HLA-A
7 caplan's syndrome 10.1 FOXP3 HLA-A
8 inflammatory bowel disease 16 10.1 CD2 CD7
9 interleukin-7 receptor alpha deficiency 10.0 IL2RG IL7
10 postencephalitic parkinson disease 10.0 HLA-A SNCA
11 t cell deficiency 10.0 CD2 FOXN1
12 follicular mucinosis 10.0 CD2 CD7 PTCRA
13 leukemia, acute lymphoblastic 3 10.0 CXCR5 IKZF1 IL7
14 jak3-deficient severe combined immunodeficiency 10.0 IL15 IL9
15 t-cell adult acute lymphocytic leukemia 9.9 CD2 CD7 FOXP3
16 graft-versus-host disease 9.9
17 combined t cell and b cell immunodeficiency 9.9 IL15 IL2RG IL7
18 eosinophilic gastritis 9.8 FOXP3 IL15
19 precursor t-cell acute lymphoblastic leukemia 9.8 CD7 IKZF1 IL2RG IL7 PTCRA
20 severe combined immunodeficiency 9.8 IL15 IL2RG IL7 IL9
21 chronic nk-cell lymphocytosis 9.8 CD2 CD7 IL15
22 aplastic anemia 9.8
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
24 ectodermal dysplasia 9.8
25 colorectal adenocarcinoma 9.8
26 immunoglobulin alpha deficiency 9.8
27 heart disease 9.8
28 dysgammaglobulinemia 9.8
29 hemolytic-uremic syndrome 9.8
30 candidiasis 9.8
31 adenocarcinoma 9.8
32 acquired immunodeficiency syndrome 9.8
33 measles 9.8
34 dwarfism 9.8
35 mycosis fungoides 9.8 CD7 IL15 IL7
36 hematologic cancer 9.7 CD2 CD7 HLA-A IKZF1 IL7
37 celiac disease 1 9.7 FOXP3 HLA-A IL15
38 sezary's disease 9.7 CD2 CD7 IL15 IL7
39 lymphoma, non-hodgkin, familial 9.6 CD7 CXCR5 IL15 IL9

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



Diseases related to Thymic Dysplasia

Symptoms & Phenotypes for Thymic Dysplasia

GenomeRNAi Phenotypes related to Thymic Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CD7 FOXN1 IKZF1 IL9 NTSR1 PTCRA

MGI Mouse Phenotypes related to Thymic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 CD7 FOXN1 FOXP3 IKZF1 IL15 IL2RG
2 hematopoietic system MP:0005397 9.96 CD7 CXCR5 FOXN1 FOXP3 IKZF1 IL15
3 immune system MP:0005387 9.9 CD7 CXCR5 FOXN1 FOXP3 IKZF1 IL15
4 digestive/alimentary MP:0005381 9.85 FOXP3 IKZF1 IL2RG IL9 NTSR1 SNCA
5 no phenotypic analysis MP:0003012 9.43 FOXP3 IKZF1 IL2RG IL7 PTCRA SNCA
6 normal MP:0002873 9.23 CD2 CXCR5 FOXN1 FOXP3 IL2RG IL9

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:

41
Bone, Bone Marrow, Heart, Nk Cells, T Cells, B Cells, Thymus

Publications for Thymic Dysplasia

Articles related to Thymic Dysplasia:

(show all 38)
# Title Authors Year
1
Autoimmunity associated with chemically induced thymic dysplasia. ( 28992076 )
2017
2
50 Years Ago in The Journal of Pediatrics: Thymic Dysplasia ("Swiss Agammaglobulinemia"). I. Graft Versus Host Reaction following Bone-Marrow Transfusion. ( 28434577 )
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
Thymic involution mimicking thymic dysplasia: a consequence of transfusion-induced graft versus host disease in a premature infant. ( 6892596 )
1980
9
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
10
Thymic involution in murine graft-versus-host reaction. Epithelial injury mimicking human thymic dysplasia. ( 18011 )
1977
11
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). ( 1052394 )
1976
12
Thymic dysplasia with normal immunoglobulins (Nezelof syndrome): a case report. ( 932589 )
1976
13
Electrophoresis of lymphoid cells. A study of Bruton type of agammaglobulinaemia, thymic dysplasia, chronic lymphatic leukaemia and of normal human thymocytes. ( 1081923 )
1975
14
Thymic dysplasia, persistence of measles virus, and unexpected infant death. ( 1190815 )
1975
15
Pancreatic changes associated with cases of thymic dysplasia. ( 1236127 )
1975
16
A syndrome of systemic hyalinosis, short-limb dwarfism and possible thymic dysplasia. ( 56200 )
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
Liver necrosis, adenovirus type 2 and thymic dysplasia. ( 4354918 )
1973
20
Hyperactive production of antibody of a boy with thymic dysplasia undergoing graft versus host reaction. ( 4149505 )
1973
21
Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia. ( 5085483 )
1972
22
Varicella as the cause of death in an infant affected by lymphopenic thymic dysplasia with dysgammaglobulinemia. ( 4111806 )
1972
23
Thymic dysplasia associated with lymphopenia. ( 4402960 )
1972
24
Comments from the readers: thymic dysplasia associated with lymphopenia. ( 4641095 )
1972
25
Thymic dysplasia associated with dyschondroplasia in an infant. ( 5026207 )
1972
26
Swiss type agammaglobulinemia in the United States. Autosomal recessive lymphopenic thymic dysplasia with agammaglobulinemia. ( 5539811 )
1971
27
Agammaglobulinemia and thymic dysplasia associated with ectodermal dysplasia. ( 5313239 )
1971
28
Severe candidiasis associated with thymic dysplasia, IgA deficiency, and plasma antilyMPHOCYTE EFFECTS. ( 5310312 )
1970
29
Thymic dysplasia. ( 4183538 )
1969
30
Thymic dysplasia with immunological deficiency. Report of two unusual cases. ( 5823356 )
1969
31
Hereditary thymic dysplasia: a graft-versus-host reaction induced by bone marrow cells with a partial 4a series histoincompatibility. ( 4885730 )
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"). II. Morphologic and functional observations. ( 6022177 )
1967
35
Thymic dysplasia ("Swiss agammaglobulinemia"). I. Graft versus host reaction following bone-marrow transfusion. ( 4164455 )
1967
36
Thymic dysplasia. A separable entity from "swiss agammaglobulinemia". ( 5338315 )
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 18)
# 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
Show member pathways
12.55 IL15 IL2RG IL7 IL9
6 12.29 CD2 CXCR5 FOXP3 IKZF1
7
Show member pathways
12.1 IL15 IL2RG IL7 IL9
8
Show member pathways
12.02 HLA-A IL15 IL9 XAF1
9 11.74 CD2 IL15 IL7
10 11.57 CD2 CD7 IL7
11
Show member pathways
11.57 CD2 IL15 IL2RG IL7 IL9
12
Show member pathways
11.16 IL2RG IL7 IL9
13 11.1 FOXP3 IL2RG IL9
14 11.02 IL15 IL7
15 11 CD7 CXCR5 IKZF1 IL15 IL7 IL9
16 10.99 IL2RG IL7
17 10.9 CD2 IL15 IL7 IL9
18 10.64 IL15 IL7 IL9

GO Terms for Thymic Dysplasia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 AKTIP CD2 SNCA XAF1 YARS
2 interleukin-7-mediated signaling pathway GO:0038111 9.52 IL2RG IL7
3 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.51 NTSR1 SNCA
4 T cell homeostasis GO:0043029 9.49 FOXN1 FOXP3
5 lymph node development GO:0048535 9.46 CXCR5 IL15
6 regulation of T cell differentiation GO:0045580 9.43 CD2 IL15
7 interleukin-15-mediated signaling pathway GO:0035723 9.4 IL15 IL2RG
8 negative regulation of histone acetylation GO:0035067 9.37 FOXP3 SNCA
9 interleukin-9-mediated signaling pathway GO:0038113 9.32 IL2RG IL9
10 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.26 NTSR1 SNCA
11 immune response GO:0006955 9.17 CD7 CXCR5 HLA-A IL15 IL2RG IL7
12 T cell lineage commitment GO:0002360 9.16 FOXN1 IL7
13 T cell activation GO:0042110 9.13 CD2 CD7 FOXP3

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 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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