Entry Search - 171833 602839 615513 616005 - OMIM
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Search: '171833 602839 615513 616005 (Search in: MIM number)'
Results: 4 entries.

1:
* 171833. PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1
Cytogenetic location: 5q13.1, Genomic coordinates (GRCh38): 5:68,215,756-68,301,821
Matching terms: 171833
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5q13.1 ?Agammaglobulinemia 7, autosomal recessive 615214 AR 3
Immunodeficiency 36 616005 AD 3
SHORT syndrome 269880 AD 3
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2:
# 616005. IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36
Cytogenetic location: 5q13.1
Matching terms: 616005
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
5q13.1 Immunodeficiency 36 616005 AD 3 PIK3R1 171833
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Immunodeficiency (select examples) - PS300755 - 143 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.33 Immunodeficiency 38 AR 3 616126 ISG15 147571
1p36.33 ?Immunodeficiency 16 AR 3 615593 TNFRSF4 600315
1p36.23 Immunodeficiency 109 with lymphoproliferation AR 3 620282 TNFRSF9 602250
1p36.22 Immunodeficiency 14B, autosomal recessive AR 3 619281 PIK3CD 602839
1p36.22 Immunodeficiency 14A, autosomal dominant AD 3 615513 PIK3CD 602839
1p35.2 Immunodeficiency 22 AR 3 615758 LCK 153390
1p34.2 Immunodeficiency 24 AR 3 615897 CTPS1 123860
1p22.3 ?Immunodeficiency 37 AR 3 616098 BCL10 603517
1q21.3 Immunodeficiency 42 AR 3 616622 RORC 602943
1q23.3 Immunodeficiency 20 AR 3 615707 FCGR3A 146740
1q24.2 ?Immunodeficiency 25 AR 3 610163 CD247 186780
1q25.3 Immunodeficiency 113 with autoimmunity and autoinflammation AR 3 620565 ARPC5 604227
1q25.3 Immunodeficiency 70 AD 3 618969 IVNS1ABP 609209
1q31.3-q32.1 Immunodeficiency 105, severe combined AR 3 619924 PTPRC 151460
2p16.1 Immunodeficiency 92 AR 3 619652 REL 164910
2p11.2 Immunodeficiency 116 AR 3 608957 CD8A 186910
2q11.2 Immunodeficiency 48 AR 3 269840 ZAP70 176947
2q24.2 Immunodeficiency 95 AR 3 619773 IFIH1 606951
2q32.2 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive AR 3 613796 STAT1 600555
2q32.2 Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant AD 3 614162 STAT1 600555
2q32.2 Immunodeficiency 31A, mycobacteriosis, autosomal dominant AD 3 614892 STAT1 600555
2q33.2 ?Immunodeficiency 123 with HPV-related verrucosis AR 3 620901 CD28 186760
2q35 Immunodeficiency 124, severe combined AR 3 611291 NHEJ1 611290
3p22.2 Immunodeficiency 68 AR 3 612260 MYD88 602170
3q21.3 Immunodeficiency 21 AD 3 614172 GATA2 137295
3q21.3 ?Immunodeficiency 128 AR 3 620983 COPG1 615525
3q29 Immunodeficiency 46 AR 3 616740 TFRC 190010
4p14 Immunodeficiency 129 AR 3 618307 RHOH 602037
4q24 Immunodeficiency 75 AR 3 619126 TET2 612839
4q35.1 {Immunodeficiency 83, susceptibility to viral infections} AD, AR 3 613002 TLR3 603029
5p15.2 {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} AD 3 619986 OTULIN 615712
5p13.2 Immunodeficiency 104, severe combined AR 3 608971 IL7R 146661
5q11.2 ?Immunodeficiency 94 with autoinflammation and dysmorphic facies AD 3 619750 IL6ST 600694
5q13.1 Immunodeficiency 36 AD 3 616005 PIK3R1 171833
5q31.1 Immunodeficiency 93 and hypertrophic cardiomyopathy AR 3 619705 FNIP1 610594
5q31.1 Immunodeficiency 117, mycobacteriosis, autosomal recessive AR 3 620668 IRF1 147575
5q33.3 Immunodeficiency 29, mycobacteriosis AR 3 614890 IL12B 161561
5q35.1 Immunodeficiency 40 AR 3 616433 DOCK2 603122
5q35.1 Immunodeficiency 81 AR 3 619374 LCP2 601603
6p25.3 Immunodeficiency 131 AD, AR 3 621097 IRF4 601900
6p25.2 Immunodeficiency 57 with autoinflammation AR 3 618108 RIPK1 603453
6p21.33 ?Immunodeficiency 127 AR 3 620977 TNF 191160
6p21.31 Immunodeficiency 87 and autoimmunity AR 3 619573 DEF6 610094
6p21.1 Immunodeficiency 126 AR 3 620931 PTCRA 606817
6q14.1 Immunodeficiency 23 AR 3 615816 PGM3 172100
6q15 Immunodeficiency 60 and autoimmunity AD 3 618394 BACH2 605394
6q23.3 Immunodeficiency 27B, mycobacteriosis, AD AD 3 615978 IFNGR1 107470
6q23.3 Immunodeficiency 27A, mycobacteriosis, AR AR 3 209950 IFNGR1 107470
7p22.2 Immunodeficiency 11A AR 3 615206 CARD11 607210
7p22.2 Immunodeficiency 11B with atopic dermatitis AD 3 617638 CARD11 607210
7q22.1 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia AR 3 617718 ARPC1B 604223
7q22.3 Immunodeficiency 97 with autoinflammation AR 3 619802 PIK3CG 601232
8p11.21 Immunodeficiency 15B AR 3 615592 IKBKB 603258
8p11.21 Immunodeficiency 15A AD 3 618204 IKBKB 603258
8q11.21 Immunodeficiency 26, with or without neurologic abnormalities AR 3 615966 PRKDC 600899
8q11.21 Immunodeficiency 54 AR 3 609981 MCM4 602638
8q21.13 Immunodeficiency 130 with HPV-related verrucosis AR 3 618309 IL7 146660
9q22.2 Immunodeficiency 82 with systemic inflammation AD 3 619381 SYK 600085
9q34.3 Immunodeficiency 103, susceptibility to fungal infection AR 3 212050 CARD9 607212
10p15.1 Immunodeficiency 41 with lymphoproliferation and autoimmunity AR 3 606367 IL2RA 147730
10p13 Immunodeficiency 80 with or without cardiomyopathy AR 3 619313 MCM10 609357
11p15.5 ?Immunodeficiency 39 AR 3 616345 IRF7 605047
11p15.4 Immunodeficiency 10 AR 3 612783 STIM1 605921
11q12.1 Immunodeficiency 77 AD 3 619223 MPEG1 610390
11q13.3 Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction AR 3 613759 FADD 602457
11q13.4 Immunodeficiency 122 AR 3 620869 POLD3 611415
11q23.3 Immunodeficiency 18, SCID variant AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 18 AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 19, severe combined AR 3 615617 CD3D 186790
11q23.3 Immunodeficiency 17, CD3 gamma deficient AR 3 615607 CD3G 186740
11q23.3 ?Immunodeficiency 59 and hypoglycemia AR 3 233600 HYOU1 601746
12p13.31 Immunodeficiency 79 AR 3 619238 CD4 186940
12q12 Immunodeficiency 67 AR 3 607676 IRAK4 606883
12q13.13-q13.2 Immunodeficiency 72 with autoinflammation AR 3 618982 NCKAP1L 141180
12q13.3 Immunodeficiency 44 AR 3 616636 STAT2 600556
12q15 ?Immunodeficiency 69, mycobacteriosis AR 3 618963 IFNG 147570
12q24.13 Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia AD 3 618042 OAS1 164350
12q24.31 Immunodeficiency 9 AR 3 612782 ORAI1 610277
13q33.1 Immunodeficiency 78 with autoimmunity and developmental delay AR 3 619220 TPP2 190470
14q11.2 Immunodeficiency 7, TCR-alpha/beta deficient AR 3 615387 TRAC 186880
14q11.2 ?Immunodeficiency 108 with autoinflammation AR 3 260570 CEBPE 600749
14q12 Immunodeficiency 115 with autoinflammation AR 3 620632 RNF31 612487
14q12 Immunodeficiency 65, susceptibility to viral infections AR 3 618648 IRF9 147574
14q32.2 Immunodeficiency 49, severe combined AD 3 617237 BCL11B 606558
14q32.32 Immunodeficiency 132A AD 3 614849 TRAF3 601896
14q32.32 Immunodeficiency 132B AD 3 621096 TRAF3 601896
15q14 Immunodeficiency 64 AR 3 618534 RASGRP1 603962
15q21.1 Immunodeficiency 43 AR 3 241600 B2M 109700
15q21.2 Immunodeficiency 86, mycobacteriosis AR 3 619549 SPPL2A 608238
16p12.1 Immunodeficiency 56 AR 3 615207 IL21R 605383
16p11.2 Immunodeficiency 52 AR 3 617514 LAT 602354
16p11.2 Immunodeficiency 8 AR 3 615401 CORO1A 605000
16q22.1 Immunodeficiency 58 AR 3 618131 CARMIL2 610859
16q22.1 Immunodeficiency 121 with autoinflammation AD 3 620807 PSMB10 176847
16q24.1 Immunodeficiency 32A, mycobacteriosis, autosomal dominant AD 3 614893 IRF8 601565
16q24.1 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive AR 3 226990 IRF8 601565
17q11.2 ?Immunodeficiency 13 AD 3 615518 UNC119 604011
17q12-q21.1 ?Immunodeficiency 84 AD 3 619437 IKZF3 606221
17q21.31 Immunodeficiency 112 AR 3 620449 MAP3K14 604655
17q21.32 ?Immunodeficiency 88 AR 3 619630 TBX21 604895
18q21.32 Immunodeficiency 12 AR 3 615468 MALT1 604860
19p13.3 Hatipoglu immunodeficiency syndrome AR 3 620331 DPP9 608258
19p13.2 Immunodeficiency 35 AR 3 611521 TYK2 176941
19p13.11 Immunodeficiency 76 AR 3 619164 FCHO1 613437
19p13.11 Immunodeficiency 30 AR 3 614891 IL12RB1 601604
19q13.2 ?Immunodeficiency 62 AR 3 618459 ARHGEF1 601855
19q13.32 ?Immunodeficiency 53 AR 3 617585 RELB 604758
19q13.33 Immunodeficiency 96 AR 3 619774 LIG1 126391
19q13.33 ?Immunodeficiency 125 AR 3 620926 FLT3LG 600007
19q13.33 Immunodeficiency 120 AR 3 620836 POLD1 174761
20p11.23 ?Immunodeficiency 101 (varicella zoster virus-specific) AD 3 619872 POLR3F 617455
20p11.21 Immunodeficiency 55 AR 3 617827 GINS1 610608
20q11.23 ?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias AR 3 619846 CTNNBL1 611537
20q13.12 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations AR 3 614868 STK4 604965
20q13.13 Immunodeficiency 91 and hyperinflammation AR 3 619644 ZNFX1 618931
21q22.11 Immunodeficiency 45 AR 3 616669 IFNAR2 602376
21q22.11 Immunodeficiency 106, susceptibility to viral infections AR 3 619935 IFNAR1 107450
21q22.11 Immunodeficiency 28, mycobacteriosis AR 3 614889 IFNGR2 147569
21q22.3 ?Immunodeficiency 119 AR 3 620825 ICOSLG 605717
21q22.3 Immunodeficiency 114, folate-responsive AR 3 620603 SLC19A1 600424
22q11.1 Immunodeficiency 51 AR 3 613953 IL17RA 605461
22q12.3 ?Immunodeficiency 85 and autoimmunity AD 3 619510 TOM1 604700
22q12.3 Immunodeficiency 63 with lymphoproliferation and autoimmunity AR 3 618495 IL2RB 146710
22q13.1 ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia AR 3 618987 RAC2 602049
22q13.1 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia AD 3 618986 RAC2 602049
22q13.1 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis AD 3 608203 RAC2 602049
22q13.1 ?Immunodeficiency 89 and autoimmunity AR 3 619632 CARD10 607209
22q13.1-q13.2 ?Immunodeficiency 66 AR 3 618847 MKL1 606078
Xp22.2 Immunodeficiency 74, COVID19-related, X-linked XLR 3 301051 TLR7 300365
Xp22.2 Immunodeficiency 98 with autoinflammation, X-linked SMo, XL 3 301078 TLR8 300366
Xp22.12 ?Immunodeficiency 61 XLR 3 300310 SH3KBP1 300374
Xp21.1-p11.4 Immunodeficiency 34, mycobacteriosis, X-linked XLR 3 300645 CYBB 300481
Xp11.23 Wiskott-Aldrich syndrome XLR 3 301000 WAS 300392
Xq12 Immunodeficiency 50 XLR 3 300988 MSN 309845
Xq13.1 Severe combined immunodeficiency, X-linked XLR 3 300400 IL2RG 308380
Xq13.1 Combined immunodeficiency, X-linked, moderate XLR 3 312863 IL2RG 308380
Xq22.1 Agammaglobulinemia, X-linked 1 XLR 3 300755 BTK 300300
Xq24 Immunodeficiency 118, mycobacteriosis XLR 3 301115 MCTS1 300587
Xq25 Lymphoproliferative syndrome, X-linked, 1 XLR 3 308240 SH2D1A 300490
Xq26.1 Immunodeficiency 102 XLR 3 301082 SASH3 300441
Xq26.3 Immunodeficiency, X-linked, with hyper-IgM XLR 3 308230 TNFSF5 300386
Xq28 Immunodeficiency 47 XLR 3 300972 ATP6AP1 300197
Xq28 Immunodeficiency 33 XLR 3 300636 IKBKG 300248
▲ Close
ICD+
ORPHA: 397596
DO: 0111949
▲ Close

3:
# 615513. IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT; IMD14A
Cytogenetic location: 1p36.22
Matching terms: 615513
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1p36.22 Immunodeficiency 14A, autosomal dominant 615513 AD 3 PIK3CD 602839
▲ Close
Immunodeficiency (select examples) - PS300755 - 143 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.33 Immunodeficiency 38 AR 3 616126 ISG15 147571
1p36.33 ?Immunodeficiency 16 AR 3 615593 TNFRSF4 600315
1p36.23 Immunodeficiency 109 with lymphoproliferation AR 3 620282 TNFRSF9 602250
1p36.22 Immunodeficiency 14B, autosomal recessive AR 3 619281 PIK3CD 602839
1p36.22 Immunodeficiency 14A, autosomal dominant AD 3 615513 PIK3CD 602839
1p35.2 Immunodeficiency 22 AR 3 615758 LCK 153390
1p34.2 Immunodeficiency 24 AR 3 615897 CTPS1 123860
1p22.3 ?Immunodeficiency 37 AR 3 616098 BCL10 603517
1q21.3 Immunodeficiency 42 AR 3 616622 RORC 602943
1q23.3 Immunodeficiency 20 AR 3 615707 FCGR3A 146740
1q24.2 ?Immunodeficiency 25 AR 3 610163 CD247 186780
1q25.3 Immunodeficiency 113 with autoimmunity and autoinflammation AR 3 620565 ARPC5 604227
1q25.3 Immunodeficiency 70 AD 3 618969 IVNS1ABP 609209
1q31.3-q32.1 Immunodeficiency 105, severe combined AR 3 619924 PTPRC 151460
2p16.1 Immunodeficiency 92 AR 3 619652 REL 164910
2p11.2 Immunodeficiency 116 AR 3 608957 CD8A 186910
2q11.2 Immunodeficiency 48 AR 3 269840 ZAP70 176947
2q24.2 Immunodeficiency 95 AR 3 619773 IFIH1 606951
2q32.2 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive AR 3 613796 STAT1 600555
2q32.2 Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant AD 3 614162 STAT1 600555
2q32.2 Immunodeficiency 31A, mycobacteriosis, autosomal dominant AD 3 614892 STAT1 600555
2q33.2 ?Immunodeficiency 123 with HPV-related verrucosis AR 3 620901 CD28 186760
2q35 Immunodeficiency 124, severe combined AR 3 611291 NHEJ1 611290
3p22.2 Immunodeficiency 68 AR 3 612260 MYD88 602170
3q21.3 Immunodeficiency 21 AD 3 614172 GATA2 137295
3q21.3 ?Immunodeficiency 128 AR 3 620983 COPG1 615525
3q29 Immunodeficiency 46 AR 3 616740 TFRC 190010
4p14 Immunodeficiency 129 AR 3 618307 RHOH 602037
4q24 Immunodeficiency 75 AR 3 619126 TET2 612839
4q35.1 {Immunodeficiency 83, susceptibility to viral infections} AD, AR 3 613002 TLR3 603029
5p15.2 {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} AD 3 619986 OTULIN 615712
5p13.2 Immunodeficiency 104, severe combined AR 3 608971 IL7R 146661
5q11.2 ?Immunodeficiency 94 with autoinflammation and dysmorphic facies AD 3 619750 IL6ST 600694
5q13.1 Immunodeficiency 36 AD 3 616005 PIK3R1 171833
5q31.1 Immunodeficiency 93 and hypertrophic cardiomyopathy AR 3 619705 FNIP1 610594
5q31.1 Immunodeficiency 117, mycobacteriosis, autosomal recessive AR 3 620668 IRF1 147575
5q33.3 Immunodeficiency 29, mycobacteriosis AR 3 614890 IL12B 161561
5q35.1 Immunodeficiency 40 AR 3 616433 DOCK2 603122
5q35.1 Immunodeficiency 81 AR 3 619374 LCP2 601603
6p25.3 Immunodeficiency 131 AD, AR 3 621097 IRF4 601900
6p25.2 Immunodeficiency 57 with autoinflammation AR 3 618108 RIPK1 603453
6p21.33 ?Immunodeficiency 127 AR 3 620977 TNF 191160
6p21.31 Immunodeficiency 87 and autoimmunity AR 3 619573 DEF6 610094
6p21.1 Immunodeficiency 126 AR 3 620931 PTCRA 606817
6q14.1 Immunodeficiency 23 AR 3 615816 PGM3 172100
6q15 Immunodeficiency 60 and autoimmunity AD 3 618394 BACH2 605394
6q23.3 Immunodeficiency 27B, mycobacteriosis, AD AD 3 615978 IFNGR1 107470
6q23.3 Immunodeficiency 27A, mycobacteriosis, AR AR 3 209950 IFNGR1 107470
7p22.2 Immunodeficiency 11A AR 3 615206 CARD11 607210
7p22.2 Immunodeficiency 11B with atopic dermatitis AD 3 617638 CARD11 607210
7q22.1 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia AR 3 617718 ARPC1B 604223
7q22.3 Immunodeficiency 97 with autoinflammation AR 3 619802 PIK3CG 601232
8p11.21 Immunodeficiency 15B AR 3 615592 IKBKB 603258
8p11.21 Immunodeficiency 15A AD 3 618204 IKBKB 603258
8q11.21 Immunodeficiency 26, with or without neurologic abnormalities AR 3 615966 PRKDC 600899
8q11.21 Immunodeficiency 54 AR 3 609981 MCM4 602638
8q21.13 Immunodeficiency 130 with HPV-related verrucosis AR 3 618309 IL7 146660
9q22.2 Immunodeficiency 82 with systemic inflammation AD 3 619381 SYK 600085
9q34.3 Immunodeficiency 103, susceptibility to fungal infection AR 3 212050 CARD9 607212
10p15.1 Immunodeficiency 41 with lymphoproliferation and autoimmunity AR 3 606367 IL2RA 147730
10p13 Immunodeficiency 80 with or without cardiomyopathy AR 3 619313 MCM10 609357
11p15.5 ?Immunodeficiency 39 AR 3 616345 IRF7 605047
11p15.4 Immunodeficiency 10 AR 3 612783 STIM1 605921
11q12.1 Immunodeficiency 77 AD 3 619223 MPEG1 610390
11q13.3 Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction AR 3 613759 FADD 602457
11q13.4 Immunodeficiency 122 AR 3 620869 POLD3 611415
11q23.3 Immunodeficiency 18, SCID variant AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 18 AR 3 615615 CD3E 186830
11q23.3 Immunodeficiency 19, severe combined AR 3 615617 CD3D 186790
11q23.3 Immunodeficiency 17, CD3 gamma deficient AR 3 615607 CD3G 186740
11q23.3 ?Immunodeficiency 59 and hypoglycemia AR 3 233600 HYOU1 601746
12p13.31 Immunodeficiency 79 AR 3 619238 CD4 186940
12q12 Immunodeficiency 67 AR 3 607676 IRAK4 606883
12q13.13-q13.2 Immunodeficiency 72 with autoinflammation AR 3 618982 NCKAP1L 141180
12q13.3 Immunodeficiency 44 AR 3 616636 STAT2 600556
12q15 ?Immunodeficiency 69, mycobacteriosis AR 3 618963 IFNG 147570
12q24.13 Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia AD 3 618042 OAS1 164350
12q24.31 Immunodeficiency 9 AR 3 612782 ORAI1 610277
13q33.1 Immunodeficiency 78 with autoimmunity and developmental delay AR 3 619220 TPP2 190470
14q11.2 Immunodeficiency 7, TCR-alpha/beta deficient AR 3 615387 TRAC 186880
14q11.2 ?Immunodeficiency 108 with autoinflammation AR 3 260570 CEBPE 600749
14q12 Immunodeficiency 115 with autoinflammation AR 3 620632 RNF31 612487
14q12 Immunodeficiency 65, susceptibility to viral infections AR 3 618648 IRF9 147574
14q32.2 Immunodeficiency 49, severe combined AD 3 617237 BCL11B 606558
14q32.32 Immunodeficiency 132A AD 3 614849 TRAF3 601896
14q32.32 Immunodeficiency 132B AD 3 621096 TRAF3 601896
15q14 Immunodeficiency 64 AR 3 618534 RASGRP1 603962
15q21.1 Immunodeficiency 43 AR 3 241600 B2M 109700
15q21.2 Immunodeficiency 86, mycobacteriosis AR 3 619549 SPPL2A 608238
16p12.1 Immunodeficiency 56 AR 3 615207 IL21R 605383
16p11.2 Immunodeficiency 52 AR 3 617514 LAT 602354
16p11.2 Immunodeficiency 8 AR 3 615401 CORO1A 605000
16q22.1 Immunodeficiency 58 AR 3 618131 CARMIL2 610859
16q22.1 Immunodeficiency 121 with autoinflammation AD 3 620807 PSMB10 176847
16q24.1 Immunodeficiency 32A, mycobacteriosis, autosomal dominant AD 3 614893 IRF8 601565
16q24.1 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive AR 3 226990 IRF8 601565
17q11.2 ?Immunodeficiency 13 AD 3 615518 UNC119 604011
17q12-q21.1 ?Immunodeficiency 84 AD 3 619437 IKZF3 606221
17q21.31 Immunodeficiency 112 AR 3 620449 MAP3K14 604655
17q21.32 ?Immunodeficiency 88 AR 3 619630 TBX21 604895
18q21.32 Immunodeficiency 12 AR 3 615468 MALT1 604860
19p13.3 Hatipoglu immunodeficiency syndrome AR 3 620331 DPP9 608258
19p13.2 Immunodeficiency 35 AR 3 611521 TYK2 176941
19p13.11 Immunodeficiency 76 AR 3 619164 FCHO1 613437
19p13.11 Immunodeficiency 30 AR 3 614891 IL12RB1 601604
19q13.2 ?Immunodeficiency 62 AR 3 618459 ARHGEF1 601855
19q13.32 ?Immunodeficiency 53 AR 3 617585 RELB 604758
19q13.33 Immunodeficiency 96 AR 3 619774 LIG1 126391
19q13.33 ?Immunodeficiency 125 AR 3 620926 FLT3LG 600007
19q13.33 Immunodeficiency 120 AR 3 620836 POLD1 174761
20p11.23 ?Immunodeficiency 101 (varicella zoster virus-specific) AD 3 619872 POLR3F 617455
20p11.21 Immunodeficiency 55 AR 3 617827 GINS1 610608
20q11.23 ?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias AR 3 619846 CTNNBL1 611537
20q13.12 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations AR 3 614868 STK4 604965
20q13.13 Immunodeficiency 91 and hyperinflammation AR 3 619644 ZNFX1 618931
21q22.11 Immunodeficiency 45 AR 3 616669 IFNAR2 602376
21q22.11 Immunodeficiency 106, susceptibility to viral infections AR 3 619935 IFNAR1 107450
21q22.11 Immunodeficiency 28, mycobacteriosis AR 3 614889 IFNGR2 147569
21q22.3 ?Immunodeficiency 119 AR 3 620825 ICOSLG 605717
21q22.3 Immunodeficiency 114, folate-responsive AR 3 620603 SLC19A1 600424
22q11.1 Immunodeficiency 51 AR 3 613953 IL17RA 605461
22q12.3 ?Immunodeficiency 85 and autoimmunity AD 3 619510 TOM1 604700
22q12.3 Immunodeficiency 63 with lymphoproliferation and autoimmunity AR 3 618495 IL2RB 146710
22q13.1 ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia AR 3 618987 RAC2 602049
22q13.1 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia AD 3 618986 RAC2 602049
22q13.1 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis AD 3 608203 RAC2 602049
22q13.1 ?Immunodeficiency 89 and autoimmunity AR 3 619632 CARD10 607209
22q13.1-q13.2 ?Immunodeficiency 66 AR 3 618847 MKL1 606078
Xp22.2 Immunodeficiency 74, COVID19-related, X-linked XLR 3 301051 TLR7 300365
Xp22.2 Immunodeficiency 98 with autoinflammation, X-linked SMo, XL 3 301078 TLR8 300366
Xp22.12 ?Immunodeficiency 61 XLR 3 300310 SH3KBP1 300374
Xp21.1-p11.4 Immunodeficiency 34, mycobacteriosis, X-linked XLR 3 300645 CYBB 300481
Xp11.23 Wiskott-Aldrich syndrome XLR 3 301000 WAS 300392
Xq12 Immunodeficiency 50 XLR 3 300988 MSN 309845
Xq13.1 Severe combined immunodeficiency, X-linked XLR 3 300400 IL2RG 308380
Xq13.1 Combined immunodeficiency, X-linked, moderate XLR 3 312863 IL2RG 308380
Xq22.1 Agammaglobulinemia, X-linked 1 XLR 3 300755 BTK 300300
Xq24 Immunodeficiency 118, mycobacteriosis XLR 3 301115 MCTS1 300587
Xq25 Lymphoproliferative syndrome, X-linked, 1 XLR 3 308240 SH2D1A 300490
Xq26.1 Immunodeficiency 102 XLR 3 301082 SASH3 300441
Xq26.3 Immunodeficiency, X-linked, with hyper-IgM XLR 3 308230 TNFSF5 300386
Xq28 Immunodeficiency 47 XLR 3 300972 ATP6AP1 300197
Xq28 Immunodeficiency 33 XLR 3 300636 IKBKG 300248
▲ Close
ICD+
SNOMEDCT: 711480000
ORPHA: 397596
DO: 0111936
▲ Close

4:
* 602839. PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:9,627,258-9,729,114
Matching terms: 602839
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1p36.22 ?Roifman-Chitayat syndrome, digenic 613328 DR 3
Immunodeficiency 14A, autosomal dominant 615513 AD 3
Immunodeficiency 14B, autosomal recessive 619281 AR 3
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ICD+
SNOMEDCT: 711480000
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Search: 171833 602839 615513 616005 (Search in: MIM number)
Results: 4 entries.

1:
* 171833. PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1
Cytogenetic location: 5q13.1, Genomic coordinates (GRCh38): 5:68,215,756-68,301,821
Matching terms: 171833

2:
# 616005. IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36
Cytogenetic location: 5q13.1
Matching terms: 616005

3:
# 615513. IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT; IMD14A
Cytogenetic location: 1p36.22
Matching terms: 615513

4:
* 602839. PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD
Cytogenetic location: 1p36.22, Genomic coordinates (GRCh38): 1:9,627,258-9,729,114
Matching terms: 602839


NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025