MCID: IMM117
MIFTS: 22

Immunodeficiency by Defective Expression of Hla Class 1

Categories: Blood diseases, Rare diseases, Immune 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 59
Bare Lymphocyte Syndrome Type 1 59 29 6 40

Characteristics:

Orphanet epidemiological data:

59
immunodeficiency by defective expression of hla class 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA34592
UMLS via Orphanet 74 C1858266
ICD10 via Orphanet 34 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 cardiac sarcoidosis. 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 9.5 TAP1 TAPBP
2 cardiac sarcoidosis 9.4 TAP1 TAP2
3 idiopathic bronchiectasis 9.3 TAP1 TAP2
4 alveolar echinococcosis 9.2 TAP1 TAP2
5 spondylitis 9.1 TAP1 TAP2
6 herpes simplex 8.9 TAP1 TAP2
7 bare lymphocyte syndrome, type i 8.8 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:

46
# 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 TAP1 TAP2 TAPBP B2M

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 29 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
(show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
2 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
3 TAP2 TAP2, 1-BP DEL deletion Pathogenic
4 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
5 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh37 Chromosome 6, 32805967: 32805967
6 TAP2 NM_000544.3(TAP2): c.44T> C (p.Val15Ala) single nucleotide variant Benign/Likely benign rs55827768 GRCh38 Chromosome 6, 32838190: 32838190
7 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh37 Chromosome 6, 32798457: 32798458
8 TAP2 NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile) indel Benign rs369909014 GRCh38 Chromosome 6, 32830680: 32830681
9 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh37 Chromosome 6, 32800235: 32800235
10 TAP2 NM_000544.3(TAP2): c.1147C> T (p.Leu383=) single nucleotide variant Likely benign rs761704456 GRCh38 Chromosome 6, 32832458: 32832458
11 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh37 Chromosome 6, 32802958: 32802958
12 TAP2 NM_000544.3(TAP2): c.918G> A (p.Ala306=) single nucleotide variant Benign rs556799828 GRCh38 Chromosome 6, 32835181: 32835181
13 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh37 Chromosome 6, 32803501: 32803501
14 TAP2 NM_000544.3(TAP2): c.658C> A (p.Arg220=) single nucleotide variant Benign rs142794316 GRCh38 Chromosome 6, 32835724: 32835724
15 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh37 Chromosome 6, 32805789: 32805789
16 TAP2 NM_000544.3(TAP2): c.222C> A (p.Pro74=) single nucleotide variant Benign rs2229526 GRCh38 Chromosome 6, 32838012: 32838012
17 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh38 Chromosome 6, 32847125: 32847125
18 TAP1 NM_000593.5(TAP1): c.2163G> A (p.Pro721=) single nucleotide variant Benign rs41551515 GRCh37 Chromosome 6, 32814902: 32814902
19 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh38 Chromosome 6, 32852214: 32852214
20 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 GRCh37 Chromosome 6, 32819991: 32819991
21 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh38 Chromosome 6, 32853588: 32853588
22 TAP1 NM_000593.5(TAP1): c.229G> C (p.Gly77Arg) single nucleotide variant Benign rs57640466 GRCh37 Chromosome 6, 32821365: 32821365
23 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh38 Chromosome 6, 33304535: 33304535
24 TAPBP NM_003190.4(TAPBP): c.972G> A (p.Gly324=) single nucleotide variant Benign rs61739590 GRCh37 Chromosome 6, 33272312: 33272312
25 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh38 Chromosome 6, 33305295: 33305295
26 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 GRCh37 Chromosome 6, 33273072: 33273072
27 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh37 Chromosome 6, 32797283: 32797283
28 TAP2 NM_000544.3(TAP2): c.1826C> T (p.Ala609Val) single nucleotide variant Benign rs74770812 GRCh38 Chromosome 6, 32829506: 32829506
29 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh37 Chromosome 6, 32800221: 32800221
30 TAP2 NM_000544.3(TAP2): c.1161G> A (p.Val387=) single nucleotide variant Benign rs2856992 GRCh38 Chromosome 6, 32832444: 32832444
31 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh37 Chromosome 6, 32800243: 32800244
32 TAP2 NM_000544.3(TAP2): c.1144-6_1144-5delinsAC indel Benign rs386699797 GRCh38 Chromosome 6, 32832466: 32832467
33 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh37 Chromosome 6, 32800427: 32800427
34 TAP2 NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr) single nucleotide variant Benign rs111303994 GRCh38 Chromosome 6, 32832650: 32832650
35 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh38 Chromosome 6, 32838230: 32838230
36 TAP2 NM_000544.3(TAP2): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs61736918 GRCh37 Chromosome 6, 32806007: 32806007
37 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh38 Chromosome 6, 32847165: 32847165
38 TAP1 NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln) single nucleotide variant Benign rs1057149 GRCh37 Chromosome 6, 32814942: 32814942
39 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh38 Chromosome 6, 32848666: 32848666
40 TAP1 NM_000593.5(TAP1): c.1732G> A (p.Val578Ile) single nucleotide variant Benign rs41561219 GRCh37 Chromosome 6, 32816443: 32816443
41 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh38 Chromosome 6, 32848995: 32848995
42 TAP1 NM_000593.5(TAP1): c.1552G> T (p.Val518Leu) single nucleotide variant Benign rs41550019 GRCh37 Chromosome 6, 32816772: 32816772
43 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh38 Chromosome 6, 32849112: 32849112
44 TAP1 NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys) single nucleotide variant Benign rs2228110 GRCh37 Chromosome 6, 32816889: 32816889
45 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 GRCh38 Chromosome 6, 32850448: 32850448
46 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 GRCh37 Chromosome 6, 32818225: 32818225
47 TAP1 NM_000593.5(TAP1): c.1289C> T (p.Ala430Val) single nucleotide variant Benign rs2127679 GRCh37 Chromosome 6, 32818236: 32818236
48 TAP1 NM_000593.5(TAP1): c.1289C> T (p.Ala430Val) single nucleotide variant Benign rs2127679 GRCh38 Chromosome 6, 32850459: 32850459
49 TAP1 NM_000593.5(TAP1): c.942C> T (p.Gly314=) single nucleotide variant Benign rs41549617 GRCh38 Chromosome 6, 32852191: 32852191
50 TAP1 NM_000593.5(TAP1): c.942C> T (p.Gly314=) single nucleotide variant Benign rs41549617 GRCh37 Chromosome 6, 32819968: 32819968

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 9.61 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 9.46 TAP1 TAP2
5 cytosol to ER transport GO:0046967 9.4 TAP1 TAP2
6 amide transport GO:0042886 9.37 TAP1 TAPBP
7 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.33 TAP1 TAP2 TAPBP
8 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 B2M TAP1 TAP2 TAPBP
9 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 transmembrane transporter activity GO:1904680 9.32 TAP1 TAP2
8 MHC class Ib protein binding GO:0023029 9.26 TAP1 TAP2
9 TAP2 binding GO:0046979 9.16 TAP1 TAPBP
10 TAP1 binding GO:0046978 9.13 TAP1 TAP2 TAPBP
11 peptide antigen-transporting ATPase activity GO:0015433 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
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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