MCID: XLN233
MIFTS: 13

X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Categories: Immune diseases, Rare diseases

Aliases & Classifications for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

MalaCards integrated aliases for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency:

Name: X-Linked Lymphoproliferative Disease Due to Xiap Deficiency 60
Lymphoproliferative Syndrome 2, X-Linked 30 6
Lymphoproliferative Syndrome, X-Linked, Type 2 41
X-Linked Lymphoproliferative Syndrome Type 2 60
Xiap Deficiency Syndrome 60
Xlp2 60

Classifications:



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Orphanet 60 ORPHA538934

Summaries for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

MalaCards based summary : X-Linked Lymphoproliferative Disease Due to Xiap Deficiency, also known as lymphoproliferative syndrome 2, x-linked, is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome, x-linked, 2. An important gene associated with X-Linked Lymphoproliferative Disease Due to Xiap Deficiency is XIAP (X-Linked Inhibitor Of Apoptosis). Affiliated tissues include testes.

Related Diseases for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Diseases related to X-Linked Lymphoproliferative Disease Due to Xiap Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 11.4
2 lymphoproliferative syndrome, x-linked, 2 10.3

Symptoms & Phenotypes for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Drugs & Therapeutics for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Search Clinical Trials , NIH Clinical Center for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Genetic Tests for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Genetic tests related to X-Linked Lymphoproliferative Disease Due to Xiap Deficiency:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 2, X-Linked 30 XIAP

Anatomical Context for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

MalaCards organs/tissues related to X-Linked Lymphoproliferative Disease Due to Xiap Deficiency:

42
Testes

Publications for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Articles related to X-Linked Lymphoproliferative Disease Due to Xiap Deficiency:

# Title Authors Year
1
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. ( 26182687 )
2015
2
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. ( 25943627 )
2015
3
Clinical and genetic characteristics of XIAP deficiency in Japan. ( 22228567 )
2012
4
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. ( 21173700 )
2011
5
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. ( 19288545 )
2009
6
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ( 17080092 )
2006

Variations for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

ClinVar genetic disease variations for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic rs1556404534 GRCh37 Chromosome X, 123019804: 123019804
2 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic rs1556404534 GRCh38 Chromosome X, 123885954: 123885954
3 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh37 Chromosome X, 123019864: 123019864
4 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh38 Chromosome X, 123886014: 123886014
5 XIAP XIAP, 2606-BP DEL deletion Pathogenic
6 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh37 Chromosome X, 123020120: 123020120
7 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh38 Chromosome X, 123886270: 123886270
8 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs199683465 GRCh37 Chromosome X, 123025158: 123025160
9 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs199683465 GRCh38 Chromosome X, 123891308: 123891310
10 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh37 Chromosome X, 123034511: 123034511
11 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh38 Chromosome X, 123900661: 123900661
12 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh37 Chromosome X, 123020356: 123020356
13 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh38 Chromosome X, 123886506: 123886506
14 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic rs1556406033 GRCh37 Chromosome X, 123025131: 123025132
15 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic rs1556406033 GRCh38 Chromosome X, 123891281: 123891282
16 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic rs1556404673 GRCh37 Chromosome X, 123020163: 123020163
17 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic rs1556404673 GRCh38 Chromosome X, 123886313: 123886313
18 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic rs1556404697 GRCh38 Chromosome X, 123886334: 123886334
19 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic rs1556404697 GRCh37 Chromosome X, 123020184: 123020184
20 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance rs1556404487 GRCh38 Chromosome X, 123885833: 123885833
21 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance rs1556404487 GRCh37 Chromosome X, 123019683: 123019683
22 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh37 Chromosome X, 123020281: 123020281
23 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh38 Chromosome X, 123886431: 123886431
24 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh38 Chromosome X, 123888614: 123888614
25 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh37 Chromosome X, 123022464: 123022464
26 XIAP NM_001167.3(XIAP): c.108delT (p.Pro37Glnfs) deletion Pathogenic rs1556404455 GRCh37 Chromosome X, 123019620: 123019620
27 XIAP NM_001167.3(XIAP): c.108delT (p.Pro37Glnfs) deletion Pathogenic rs1556404455 GRCh38 Chromosome X, 123885770: 123885770
28 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh38 Chromosome X, 123885938: 123885938
29 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh37 Chromosome X, 123019788: 123019788
30 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh38 Chromosome X, 123886117: 123886117
31 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh37 Chromosome X, 123019967: 123019967
32 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh38 Chromosome X, 123886350: 123886350
33 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh37 Chromosome X, 123020200: 123020200
34 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic rs1556404575 GRCh37 Chromosome X, 123019901: 123019904
35 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic rs1556404575 GRCh38 Chromosome X, 123886051: 123886054
36 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh37 Chromosome X, 123019947: 123019947
37 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh38 Chromosome X, 123886097: 123886097
38 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh37 Chromosome X, 123019585: 123019585
39 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh38 Chromosome X, 123885735: 123885735
40 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs1556404684 GRCh38 Chromosome X, 123886326: 123886326
41 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs1556404684 GRCh37 Chromosome X, 123020176: 123020176
42 XIAP NM_001167.3(XIAP): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 123886374: 123886374
43 XIAP NM_001167.3(XIAP): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123020224: 123020224
44 XIAP NC_000023.11: g.(?_123891218)_(123892793_?)del deletion Pathogenic GRCh38 Chromosome X, 123891218: 123892793
45 XIAP NC_000023.11: g.(?_123891218)_(123892793_?)del deletion Pathogenic GRCh37 Chromosome X, 123025068: 123026643
46 XIAP NC_000023.11: g.(?_123885637)_(123892793_?)del deletion Pathogenic GRCh38 Chromosome X, 123885637: 123892793
47 XIAP NC_000023.11: g.(?_123885637)_(123892793_?)del deletion Pathogenic GRCh37 Chromosome X, 123019487: 123026643
48 XIAP NM_001167.3(XIAP): c.683T> G (p.Phe228Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 123886345: 123886345
49 XIAP NM_001167.3(XIAP): c.683T> G (p.Phe228Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123020195: 123020195
50 XIAP NM_001167.3(XIAP): c.566T> C (p.Leu189Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 123886228: 123886228

Expression for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Search GEO for disease gene expression data for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency.

Pathways for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

GO Terms for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

Sources for X-Linked Lymphoproliferative Disease Due to Xiap Deficiency

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