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 dysgammaglobulinemia. An important gene associated with Thymic Dysplasia is FOXN1 (Forkhead Box N1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include bone marrow, bone and nk cells, 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 top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 immune defect due to absence of thymus 32.5 CD2 CD40LG FOXN1
2 dysgammaglobulinemia 30.2 CD40LG CD79A
3 lymphopenia 30.0 FOXP3 IL2RG IL7
4 thymus gland disease 10.8 FOXN1 XAF1 YARS
5 selective igg deficiency disease 10.6 CD40LG CD79A
6 c1q nephropathy 10.6 CD40LG CD79A
7 meningovascular neurosyphilis 10.6 CD40LG CD79A
8 alpha chain disease 10.6 CD40LG CD79A
9 brill-zinsser disease 10.6 CD40LG CD79A
10 exudative glomerulonephritis 10.6 CD40LG CD79A
11 juvenile dermatitis herpetiformis 10.6 CD79A HLA-A
12 cork-handlers' disease 10.6 CD40LG CD79A
13 salpingo-oophoritis 10.6 CD40LG CD79A
14 early yaws 10.6 CD40LG CD79A
15 ventilation pneumonitis 10.6 CD40LG CD79A
16 chronic interstitial cystitis 10.6 CD40LG CD79A
17 axillary adenitis 10.6 CD40LG CD79A
18 cryofibrinogenemia 10.6 CD40LG CD79A
19 trichostrongyloidiasis 10.6 CD40LG CD79A
20 subacute bacterial endocarditis 10.6 CD40LG CD79A
21 heterophyiasis 10.6 CD40LG CD79A
22 immunoglobulin g deficiency 10.6 CD40LG CD79A
23 orbital granuloma 10.6 CD40LG CD79A
24 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD79A
25 hyperglobulinemic purpura 10.6 CD40LG CD79A
26 gastroduodenitis 10.6 CD40LG CD79A
27 bacterial conjunctivitis 10.6 CD40LG CD79A
28 heavy chain disease 10.6 CD40LG CD79A
29 ophthalmia neonatorum 10.5 CD40LG CD79A
30 immunoglobulin a deficiency 1 10.5 CD40LG CD79A
31 parotid disease 10.5 CD40LG CD79A
32 cerebral arteritis 10.5 CD40LG CD79A
33 severe combined immunodeficiency, x-linked 10.5 IL2RG IL7 IL9
34 selective immunoglobulin deficiency disease 10.5 CD40LG CD79A
35 geniculate herpes zoster 10.5 CD40LG CD79A
36 erythema elevatum diutinum 10.5 CD40LG CD79A
37 sporotrichosis 10.5 CD40LG CD79A
38 hyperimmunoglobulin syndrome 10.5 CD40LG CD79A
39 congenital syphilis 10.5 CD40LG CD79A
40 monoclonal paraproteinemia 10.5 CD40LG CD79A
41 ocular toxoplasmosis 10.5 CD40LG CD79A
42 geographic tongue 10.5 AKTIP CD79A HLA-A
43 congenital hypogammaglobulinemia 10.5 CD40LG CD79A
44 acute maxillary sinusitis 10.4 CD40LG CD79A
45 inflammatory bowel disease 16 10.4 CD2 CD7
46 chronic polyneuropathy 10.4 CD40LG CD79A
47 spinocerebellar ataxia, autosomal recessive 10 10.4 CD40LG CD79A
48 caplan's syndrome 10.4 FOXP3 HLA-A
49 fallopian tube disease 10.4 AKTIP CD40LG CD79A
50 parasitic ichthyosporea infectious disease 10.4 CD40LG CD79A

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 9.23 CD79A 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 10.02 CD40LG IL7 CD7 FOXN1 PTCRA FOXP3
2 hematopoietic system MP:0005397 10 IL2RG CD40LG IL7 CD7 CD79A IL9
3 immune system MP:0005387 9.93 CD40LG IL7 CD7 CD79A IL9 FOXN1
4 no phenotypic analysis MP:0003012 9.5 IL2RG IL7 CD79A PTCRA SNCA FOXP3
5 normal MP:0002873 9.23 IL2RG IL9 CD79A NTSR1 FOXN1 SNCA

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 Marrow, Bone, Nk Cells, Testes, Heart, Liver

Publications for Thymic Dysplasia

Articles related to Thymic Dysplasia:

(show all 37)
# 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
Clinico-pathological study of thymic dysplasia. ( 4177044 )
1968
32
Lymphocyte studies in congenital thymic dysplasia: The one-way stimulation test. ( 5635802 )
1968
33
Thymic dysplasia ("Swiss agammaglobulinemia"). II. Morphologic and functional observations. ( 6022177 )
1967
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
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
37
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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 CD40LG HLA-A IL15 IL2RG IL7 IL9
2
Show member pathways
13.08 CD2 CD40LG IL15 IL2RG IL7 IL9
3
Show member pathways
12.66 CD40LG FOXP3 HLA-A IL15 IL9
4 12.28 CD2 CD40LG CD79A FOXP3 IKZF1
5
Show member pathways
12.03 HLA-A IL15 IL2RG IL7 IL9 XAF1
6
Show member pathways
11.87 CD2 IL15 IL2RG IL7 IL9
7 11.67 CD2 CD7 IL7
8
Show member pathways
11.55 CD40LG FOXP3 IKZF1
9 11.52 CD2 CD79A IL15 IL7
10
Show member pathways
11.27 IL2RG IL7 IL9
11 11.24 FOXP3 IL2RG IL9
12 11.07 CD40LG CD79A IL2RG
13 10.94 IL15 IL7 IL9
14 10.92 CD7 IKZF1 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 cell surface GO:0009986 9.55 CD2 CD40LG HLA-A IL15 NTSR1
2 integral component of plasma membrane GO:0005887 9.5 CD2 CD40LG CD79A HLA-A IL15 IL2RG
3 external side of plasma membrane GO:0009897 8.92 CD2 CD40LG CD79A IL2RG

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

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 AKTIP CD2 SNCA XAF1 YARS
2 positive regulation of interleukin-4 production GO:0032753 9.46 CD40LG FOXP3
3 regulation of T cell differentiation GO:0045580 9.43 CD2 IL15
4 interleukin-15-mediated signaling pathway GO:0035723 9.4 IL15 IL2RG
5 negative regulation of histone acetylation GO:0035067 9.37 FOXP3 SNCA
6 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.32 NTSR1 SNCA
7 T cell lineage commitment GO:0002360 9.26 FOXN1 IL7
8 immune response GO:0006955 9.17 CD40LG CD7 HLA-A IL15 IL2RG IL7
9 interleukin-9-mediated signaling pathway GO:0038113 9.16 IL2RG IL9
10 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 activity GO:0005125 9.26 CD40LG IL15 IL7 IL9
2 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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