MCID: ANT089
MIFTS: 11

Anti-Pit-1 Antibody Syndrome

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Anti-Pit-1 Antibody Syndrome

MalaCards integrated aliases for Anti-Pit-1 Antibody Syndrome:

Name: Anti-Pit-1 Antibody Syndrome 53 73

Classifications:



External Ids:

UMLS 73 C4046049

Summaries for Anti-Pit-1 Antibody Syndrome

MalaCards based summary : Anti-Pit-1 Antibody Syndrome is related to autoimmune disease 1 and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Anti-Pit-1 Antibody Syndrome is POU1F1 (POU Class 1 Homeobox 1). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Anti-Pit-1 Antibody Syndrome

Diseases related to Anti-Pit-1 Antibody Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 1 9.9
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
3 thymoma 9.9
4 hypopituitarism 9.9
5 autoimmune disease 9.9

Graphical network of the top 20 diseases related to Anti-Pit-1 Antibody Syndrome:



Diseases related to Anti-Pit-1 Antibody Syndrome

Symptoms & Phenotypes for Anti-Pit-1 Antibody Syndrome

GenomeRNAi Phenotypes related to Anti-Pit-1 Antibody Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.17 SIAE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.17 SIAE
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.17 POU1F1 SIAE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.17 POU1F1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.17 SIAE
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.17 SIAE

Drugs & Therapeutics for Anti-Pit-1 Antibody Syndrome

Search Clinical Trials , NIH Clinical Center for Anti-Pit-1 Antibody Syndrome

Genetic Tests for Anti-Pit-1 Antibody Syndrome

Anatomical Context for Anti-Pit-1 Antibody Syndrome

Publications for Anti-Pit-1 Antibody Syndrome

Articles related to Anti-Pit-1 Antibody Syndrome:

# Title Authors Year
1
A Novel Clinical Entity of Autoimmune Endocrinopathy: Anti-PIT-1 Antibody Syndrome. ( 28245453 )
2017
2
A novel thymoma-associated autoimmune disease: Anti-PIT-1 antibody syndrome. ( 28216655 )
2017
3
Anti-PIT-1 antibody syndrome; a novel clinical entity leading to hypopituitarism. ( 25962206 )
2015
4
Involvement of PIT-1-reactive cytotoxic T lymphocytes in anti-PIT-1 antibody syndrome. ( 24937538 )
2014
5
A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. ( 24748456 )
2014

Variations for Anti-Pit-1 Antibody Syndrome

Expression for Anti-Pit-1 Antibody Syndrome

Search GEO for disease gene expression data for Anti-Pit-1 Antibody Syndrome.

Pathways for Anti-Pit-1 Antibody Syndrome

GO Terms for Anti-Pit-1 Antibody Syndrome

Sources for Anti-Pit-1 Antibody Syndrome

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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