MCID: NZL001
MIFTS: 35

Nezelof Syndrome malady

Category: Immune diseases

Aliases & Classifications for Nezelof Syndrome

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Aliases & Descriptions for Nezelof Syndrome:

Name: Nezelof Syndrome 10 12
T-Lymphocyte Immunodeficiency 10 65
T-Lymphocyte Deficiency 10 65
T Lymphocyte Deficiency 10 12
 
Nezelof's Syndrome 10 65
T-Cell Immunodeficiency 10
Thymic Aplasia 36

Classifications:



External Ids:

Disease Ontology10 DOID:2012, DOID:613
ICD1027 D81.4
ICD9CM29 279.13
SNOMED-CT59 55602000, 402792003
MeSH36 C536288
NCIt42 C27145
UMLS65 C0152094, C1274233, C1744558

Summaries for Nezelof Syndrome

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Wikipedia:68 Nezelof syndrome (also known as \"Thymic dysplasia with normal immunoglobulins\") is an autosomal... more...

MalaCards based summary: Nezelof Syndrome, also known as t-lymphocyte immunodeficiency, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations. An important gene associated with Nezelof Syndrome is IL2 (Interleukin 2), and among its related pathways are Inflammatory Response Pathway and Cytokines and Inflammatory Response. Affiliated tissues include t cells, thymus and kidney, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Related Diseases for Nezelof Syndrome

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Diseases related to Nezelof Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1t-cell immunodeficiency, congenital alopecia, and nail dystrophy12.9
2t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations12.8
3ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.8
4t cell immunodeficiency primary12.6
5t-cell immunodeficiency with epidermodysplasia verruciformis12.6
6alopecia and t-cell immunodeficiency12.5
7immune defect due to absence of thymus11.8
8immunodeficiency due to purine nucleoside phosphorylase deficiency10.4
9digeorge syndrome10.4
10schimke immunoosseous dysplasia10.4
11brucella melitensis brucellosis10.4CD40LG, IL2
12western equine encephalitis10.4CD40LG, IL2
13plica syndrome10.4CD2, PNP
14potter's syndrome10.4CD2, PNP
15epicondylitis10.3
16congenital disorder of glycosylation, type iia10.3MTAP, PNP
17malignant choroid melanoma10.3CD40LG, IL2
18cortical thymoma10.3MTAP, PNP
19mechanical strabismus10.3CD4, IL2
20neutropenia, severe congenital 1, autosomal dominant10.3MTAP, PNP
21pre-malignant neoplasm10.3MTAP, PNP
22deafness, x-linked 110.2MTAP, PNP
23oral cavity cancer10.2CD4, CD40LG
24shigellosis10.2CD40LG, TMPO
25hymenolepiasis10.2CD4, CD40LG
26sacral spinal canal and spinal cord meningioma10.2CD4, CD40LG
27ocular hypotension10.2CD4, CD40LG
28hereditary night blindness10.2CD4, CD40LG
29differentiating neuroblastoma10.2CD4, CD40LG
30plasma protein metabolism disease10.2CD4, CD40LG
31calcific tendinitis10.2CD4, CD40LG
32scleritis10.2CD4, CD40LG
33lacrimal duct obstruction10.2CD4, CD40LG
34thrombocytopenia due to platelet alloimmunization10.2CD40LG, IL2
35cd40 deficiency10.2CD4, CD40LG
36mobitz type ii atrioventricular block10.2CD4, CD40LG
37facial hemiatrophy10.2CD4, CD40LG
38amenorrhea10.2CD4, CD40LG
39secondary syphilis10.2CD4, CD40LG
40learning disability10.2CD4, CD40LG
41ureterocele10.2CD8A, IL2
42peripheral artery disease10.1CD4, CD40LG
43spinal polio10.1CD8A, IL2
44hypersensitivity reaction type ii disease10.1CD4, CD40LG
45familial renal oncocytoma10.1CD4, CD40LG
46eosinophilia10.1CD4, CD40LG
47byssinosis10.1CD4, IL2
48mature gastric teratoma10.1CD40LG, CD8A
49plantar fascial fibromatosis10.1CD3G, CD40LG, SMARCAL1
50subacute delirium10.1CD40LG, CD8A

Graphical network of the top 20 diseases related to Nezelof Syndrome:



Diseases related to nezelof syndrome

Symptoms for Nezelof Syndrome

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Drugs & Therapeutics for Nezelof Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nezelof Syndrome


Cochrane evidence based reviews: thymic aplasia

Genetic Tests for Nezelof Syndrome

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Anatomical Context for Nezelof Syndrome

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MalaCards organs/tissues related to Nezelof Syndrome:

33
T cells, Thymus, Kidney

Animal Models for Nezelof Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Nezelof Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.5CD3G, CD4, CD40LG, CD8A, IL2, TMPO
2MP:00053977.0CD3G, CD4, CD40LG, CD8A, IL2, SMARCAL1
3MP:00053876.8CD3G, CD4, CD40LG, CD8A, IL2, MTAP

Publications for Nezelof Syndrome

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Articles related to Nezelof Syndrome:

idTitleAuthorsYear
1
Cryptococcus neoformans Ex Vivo Capsule Size Is Associated With Intracranial Pressure and Host Immune Response in HIV-associated Cryptococcal Meningitis. (23945372)
2014
2
Mitochondrial DNA mutations may not be frequent in patients with aplastic anemia - Genet. Mol. Res. 11 (3): 2130-2137 "complete sequence analysis of mitochondrial DNA of aplastic anemia patients". (23315812)
2012
3
Basic and clinical aspects of parathyroid hyperplasia in chronic kidney disease. (16810308)
2006
4
Targeting molecular pathways with camptothecin as novel therapy for gastric cancer. (10554369)
1999

Variations for Nezelof Syndrome

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Expression for genes affiliated with Nezelof Syndrome

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Search GEO for disease gene expression data for Nezelof Syndrome.

Pathways for genes affiliated with Nezelof Syndrome

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Pathways related to Nezelof Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.8CD40LG, IL2
29.6CD4, IL2
39.6CD4, IL2
4
Show member pathways
9.0CD3G, CD4, IL2
59.0CD3G, CD4, IL2
6
Show member pathways
8.8CD3G, CD8A, IL2
78.8CD3G, CD40LG, CD8A
88.7CD4, CD8A, IL2
98.7CD4, CD8A, IL2
10
Show member pathways
8.7CD3G, CD4, CD40LG, IL2
118.7CD4, CD40LG, CD8A
128.5CD3G, CD4, CD8A
13
Show member pathways
8.5CD3G, CD4, CD8A
148.4CD2, CD4, CD8A, IL2
158.3CD2, CD4, CD40LG, CD8A
16
Show member pathways
8.2CD3G, CD4, CD8A, IL2
178.2CD2, CD3G, CD4, CD8A
18
Show member pathways
8.0CD2, CD3G, CD4, CD40LG, IL2, SMARCAL1
19
Show member pathways
7.8CD3G, CD4, CD40LG, CD8A, IL2
20
Show member pathways
7.8CD3G, CD4, CD40LG, CD8A, IL2

GO Terms for genes affiliated with Nezelof Syndrome

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Biological processes related to Nezelof Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell activationGO:003010110.3CD2, IL2
2nicotinamide riboside catabolic processGO:000673810.2MTAP, PNP
3positive regulation of T cell proliferationGO:004210210.1IL2, PNP
4T cell costimulationGO:00312959.2CD3G, CD4, CD40LG
5positive regulation of calcium-mediated signalingGO:00508509.2CD4, CD8A
6cell surface receptor signaling pathwayGO:00071669.0CD2, CD3G, CD8A
7immune responseGO:00069558.8CD4, IL2, PNP
8T cell activationGO:00421108.7CD2, CD4, CD8A

Molecular functions related to Nezelof Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1coreceptor activityGO:00150269.0CD4, CD8A

Sources for Nezelof Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet