MCID: THY003
MIFTS: 22

Thymic Dysplasia

Categories: Endocrine diseases, Immune diseases

Aliases & Classifications for Thymic Dysplasia

MalaCards integrated aliases for Thymic Dysplasia:

Name: Thymic Dysplasia 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:7350
NCIt 49 C27802
UMLS 71 C1331541

Summaries for Thymic Dysplasia

MalaCards based summary : Thymic Dysplasia is related to severe combined immunodeficiency and immune defect due to absence of thymus. An important gene associated with Thymic Dysplasia is PRODH (Proline Dehydrogenase 1). Affiliated tissues include t cells, bone and bone marrow.

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 57)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 29.3 PAX1 FOXN1 CD4
2 immune defect due to absence of thymus 11.6
3 agammaglobulinemia 10.2
4 non-syndromic intellectual disability 10.2 PRODH IQSEC2
5 bone structure disease 10.1 PRODH PAX1
6 monkeypox 10.1 PRODH CD4
7 chromosome 22q11.2 duplication syndrome 10.1 PRODH HIRA
8 noonan syndrome 4 10.1 PRODH CD4
9 alopecia universalis congenita 10.1 FOXN1 CD4
10 cowpox 10.1 PRODH CD4
11 t cell deficiency 10.1 FOXN1 CD4
12 lymphopenia 10.0
13 heart septal defect 10.0 PRODH HIRA
14 patent ductus arteriosus 1 10.0 PRODH HIRA
15 velocardiofacial syndrome 10.0 PRODH HIRA
16 graft-versus-host disease 9.9
17 colorectal adenocarcinoma 9.9
18 immunoglobulin alpha deficiency 9.9
19 pancytopenia 9.9
20 adenocarcinoma 9.9
21 hair disease 9.9 FOXN1 CD4
22 chromosomal deletion syndrome 9.9 PRODH HIRA
23 retinitis pigmentosa 11 9.8 PRODH HIRA
24 chromosome 2q35 duplication syndrome 9.8
25 short-limb skeletal dysplasia with severe combined immunodeficiency 9.8
26 enterocolitis 9.8
27 immune deficiency disease 9.8
28 hemophagocytic lymphohistiocytosis, familial, 1 9.8
29 severe combined immunodeficiency, x-linked 9.8
30 aplastic anemia 9.8
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
32 cyanosis, transient neonatal 9.8
33 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
34 deficiency anemia 9.8
35 hemophagocytic lymphohistiocytosis 9.8
36 exanthem 9.8
37 inflammatory bowel disease 9.8
38 dysgammaglobulinemia 9.8
39 cornelia de lange syndrome 9.8
40 bronchopneumonia 9.8
41 hemolytic-uremic syndrome 9.8
42 reye syndrome 9.8
43 candidiasis 9.8
44 ventricular septal defect 9.8
45 ectodermal dysplasia 9.8
46 dyskeratosis congenita 9.8
47 bilirubin metabolic disorder 9.8
48 combined t cell and b cell immunodeficiency 9.8
49 acquired immunodeficiency syndrome 9.8
50 measles 9.8

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



Diseases related to Thymic Dysplasia

Symptoms & Phenotypes for Thymic Dysplasia

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:

40
T Cells, Bone, Bone Marrow, Thymus, B Cells, Heart, Testes

Publications for Thymic Dysplasia

Articles related to Thymic Dysplasia:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Follicular Helper T Cells in DiGeorge Syndrome. 61
30083170 2018
2
Autoimmunity associated with chemically induced thymic dysplasia. 61
28992076 2017
3
50 Years Ago in The Journal of Pediatrics: Thymic Dysplasia ("Swiss Agammaglobulinemia"). I. Graft Versus Host Reaction following Bone-Marrow Transfusion. 61
28434577 2017
4
A clinical and molecular analysis of a patient with Emanuel syndrome. 61
28075445 2017
5
Helios expression in T-regulatory cells in patients with di George Syndrome. 61
25008482 2014
6
[Familial hemophagocytic lymphohistiocytosis complicated by thymic dysplasia: a case report]. 61
20113668 2009
7
Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience. 61
11202237 2000
8
Kinetics of T-cell development of umbilical cord blood transplantation in severe T-cell immunodeficiency disorders. 61
10329816 1999
9
Hemolytic uremic syndrome and thymic dysplasia in an infant. 61
9630044 1998
10
Postnatal development of T cells in dogs with X-linked severe combined immunodeficiency. 61
8568244 1996
11
T cell differentiation/maturation of CD34+ stem cells from HIV-seropositive hemophiliacs in cultured thymic epithelial fragments. 61
8820959 1996
12
T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency. 61
7930609 1994
13
Histologic characterization of the thymus in canine X-linked severe combined immunodeficiency. 61
8443985 1993
14
Thymic pathology in primary and secondary immunodeficiencies. 61
1468748 1992
15
[Morphological changes in the lymphatic system of children with hereditary immunologic deficiency syndromes]. 61
1283243 1992
16
Thymic involution with loss of Hassall's corpuscles mimicking thymic dysplasia in a child with transfusion-associated graft-versus-host disease. 61
1866363 1991
17
T cell subsets in the thymus of graft-versus-host immunosuppressed mice. Sensitivity of the L3T4+Lyt-2- subset to cortisone. 61
1987697 1991
18
Evidence that appearance of thymulin in plasma follows lymphoid chimerism and precedes development of immunity in patients with lethal combined immunodeficiency transplanted with T cell-depleted haploidentical marrow. 61
2368151 1990
19
X-linked severe combined immunodeficiency in the dog. 61
2736807 1989
20
Association between the degree of thymic dysplasia and the kinetics of thymic NK cell activity during the graft-versus-host reaction. 61
3383453 1988
21
Treatment of congenital immune deficiencies with a thymic hormone--thymic humoral factor. 61
3528049 1986
22
The graft-versus-host reaction and immune function. III. Functional pre-T cells in the bone marrow of graft-versus-host-reactive mice displaying T cell immunodeficiency. 61
3484849 1986
23
The functional and histological basis for graft-versus-host-induced immunosuppression. 61
2935484 1985
24
The graft-versus-host reaction and immune function. II. Recruitment of pre-T-cells in vivo by graft-versus-host-induced dysplastic thymuses following irradiation and bone marrow treatment. 61
6142550 1984
25
Severe combined immunodeficiency disease: a pathological analysis of 26 cases. 61
6192960 1983
26
Thymic dysplasia in acquired immunodeficiency syndrome. 61
6835275 1983
27
Usefulness of monoclonal antibodies in the diagnosis and monitoring of patients with primary immunodeficiencies: combined experience in three clinical immunology centers. 61
6388970 1983
28
Probable graft-vs-graft reaction in an infant after exchange transfusion and marrow transplantation. 61
6806770 1982
29
Epstein-Barr virus in a malignant lymphoproliferative disorder of B-cells occurring after thymic epithelial transplantation for combined immunodeficiency. 61
6272969 1981
30
Generalized varicella in severe combined immunodeficiency with B lymphocytes. 61
6979157 1981
31
Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5. 61
6264787 1981
32
The lungs in fatal measles infection in childhood: pathological, radiological and immunological correlations. 61
7429429 1980
33
Thymic involution mimicking thymic dysplasia: a consequence of transfusion-induced graft versus host disease in a premature infant. 61
6892596 1980
34
[Adjuvant chemotherapy of human colorectal adenocarcinoma after growth on mice with congenital thymic dysplasia ("nude"). 1. Experiments to test the feasibility of combined chemotherapy with VCR and 5-FU (author's transl)]. 61
7430242 1980
35
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. 61
7400203 1980
36
[Hypertyrosinemia, Reye's syndrome, thymic dysplasia and adrenal atrophy]. 61
470874 1979
37
Susceptibility of mice to acute and persistent measles infection. 61
711331 1978
38
Combined immune deficiency syndromes with primary T-cell defect and partial B-cell reactive hyperactivity. Immunological and morphological analysis of two unusual cases. 61
150119 1978
39
Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia. 61
306986 1978
40
Successful transplantation of the thymus in Nezelof's syndrome. 61
307221 1978
41
[Mosaic trisomy 18 and thymic dysplasia]. 61
302392 1977
42
Thymic involution in murine graft-versus-host reaction. Epithelial injury mimicking human thymic dysplasia. 61
18011 1977
43
Abnormal immune response to infection of the dental pulp. Report of a case. 61
266683 1977
44
[Monosomy C with mosaicism and thymic dysplasia]. 61
1018997 1976
45
Thymic dysplasia with normal immunoglobulins (Nezelof syndrome): a case report. 61
932589 1976
46
Thymic dysplasia with normal immunoglobulins (the Nezelof syndrome). (A case report). 61
1052394 1976
47
Thymic dysplasia, persistence of measles virus, and unexpected infant death. 61
1190815 1975
48
[Hereditary thymic dysplasia]. 61
810858 1975
49
Pancreatic changes associated with cases of thymic dysplasia. 61
1236127 1975
50
A syndrome of systemic hyalinosis, short-limb dwarfism and possible thymic dysplasia. 61
56200 1975

Variations for Thymic Dysplasia

Expression for Thymic Dysplasia

Search GEO for disease gene expression data for Thymic Dysplasia.

Pathways for Thymic Dysplasia

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 nuclear chromatin GO:0000790 8.92 POU2F3 PAX1 HIRA FOXN1

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

# Name GO ID Score Top Affiliating Genes
1 thymus development GO:0048538 8.62 PAX1 FOXN1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.26 POU2F3 PAX1 FOXN1 FEZF2
2 DNA-binding transcription factor activity GO:0003700 9.02 POU2F3 PAX1 HIRA FOXN1 FEZF2

Sources for Thymic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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