MCID: IMM117
MIFTS: 22

Immunodeficiency by Defective Expression of Hla Class 1

Categories: Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Immunodeficiency by Defective Expression of Hla Class 1

MalaCards integrated aliases for Immunodeficiency by Defective Expression of Hla Class 1:

Name: Immunodeficiency by Defective Expression of Hla Class 1 55
Bare Lymphocyte Syndrome Type 1 55 28

Characteristics:

Orphanet epidemiological data:

55
immunodeficiency by defective expression of hla class 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

Orphanet 55 ORPHA34592
UMLS via Orphanet 70 C1858266
ICD10 via Orphanet 33 D81.6

Summaries for Immunodeficiency by Defective Expression of Hla Class 1

MalaCards based summary : Immunodeficiency by Defective Expression of Hla Class 1, also known as bare lymphocyte syndrome type 1, is related to orbital melanoma and idiopathic bronchiectasis. An important gene associated with Immunodeficiency by Defective Expression of Hla Class 1 is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Related phenotypes are hematopoietic system and immune system

Related Diseases for Immunodeficiency by Defective Expression of Hla Class 1

Diseases related to Immunodeficiency by Defective Expression of Hla Class 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orbital melanoma 9.6 TAP1 TAPBP
2 idiopathic bronchiectasis 9.5 TAP1 TAP2
3 spondylitis 9.4 TAP1 TAP2
4 herpes simplex 9.3 TAP1 TAP2
5 bare lymphocyte syndrome, type i 9.2 TAP1 TAP2 TAPBP

Graphical network of the top 20 diseases related to Immunodeficiency by Defective Expression of Hla Class 1:



Diseases related to Immunodeficiency by Defective Expression of Hla Class 1

Symptoms & Phenotypes for Immunodeficiency by Defective Expression of Hla Class 1

MGI Mouse Phenotypes related to Immunodeficiency by Defective Expression of Hla Class 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 B2M TAP1 TAP2 TAPBP
2 immune system MP:0005387 8.92 B2M TAP1 TAP2 TAPBP

Drugs & Therapeutics for Immunodeficiency by Defective Expression of Hla Class 1

Search Clinical Trials , NIH Clinical Center for Immunodeficiency by Defective Expression of Hla Class 1

Genetic Tests for Immunodeficiency by Defective Expression of Hla Class 1

Genetic tests related to Immunodeficiency by Defective Expression of Hla Class 1:

# Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome Type 1 28 TAP1 TAP2 TAPBP

Anatomical Context for Immunodeficiency by Defective Expression of Hla Class 1

Publications for Immunodeficiency by Defective Expression of Hla Class 1

Variations for Immunodeficiency by Defective Expression of Hla Class 1

ClinVar genetic disease variations for Immunodeficiency by Defective Expression of Hla Class 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
2 TAP2 TAP2, 1-BP DEL deletion Pathogenic
3 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
4 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic

Expression for Immunodeficiency by Defective Expression of Hla Class 1

Search GEO for disease gene expression data for Immunodeficiency by Defective Expression of Hla Class 1.

Pathways for Immunodeficiency by Defective Expression of Hla Class 1

GO Terms for Immunodeficiency by Defective Expression of Hla Class 1

Cellular components related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.54 TAP1 TAP2 TAPBP
2 endoplasmic reticulum membrane GO:0005789 9.5 TAP1 TAP2 TAPBP
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.33 TAP1 TAP2 TAPBP
4 integral component of endoplasmic reticulum membrane GO:0030176 9.26 TAP1 TAP2
5 phagocytic vesicle membrane GO:0030670 9.26 B2M TAP1 TAP2 TAPBP
6 TAP complex GO:0042825 8.8 TAP1 TAP2 TAPBP

Biological processes related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 B2M TAP1 TAP2
2 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.56 B2M TAP1 TAP2 TAPBP
3 peptide transport GO:0015833 9.5 TAP1 TAP2 TAPBP
4 adaptive immune response GO:0002250 9.43 TAP1 TAP2
5 cytosol to ER transport GO:0046967 9.37 TAP1 TAP2
6 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.33 TAP1 TAP2 TAPBP
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 B2M TAP1 TAP2 TAPBP
8 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 8.92 B2M TAP1 TAP2 TAPBP

Molecular functions related to Immunodeficiency by Defective Expression of Hla Class 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.49 TAP1 TAP2
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.48 TAP1 TAP2
3 peptide antigen binding GO:0042605 9.46 TAP1 TAPBP
4 MHC class I protein binding GO:0042288 9.43 TAP1 TAPBP
5 MHC protein binding GO:0042287 9.4 TAP1 TAP2
6 peptide-transporting ATPase activity GO:0015440 9.37 TAP1 TAP2
7 peptide transporter activity GO:0015197 9.32 TAP1 TAP2
8 TAP2 binding GO:0046979 9.26 TAP1 TAPBP
9 MHC class Ib protein binding GO:0023029 9.16 TAP1 TAP2
10 peptide antigen-transporting ATPase activity GO:0015433 8.96 TAP2 TAPBP
11 TAP1 binding GO:0046978 8.8 TAP1 TAP2 TAPBP

Sources for Immunodeficiency by Defective Expression of Hla Class 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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