Immunodeficiency 36 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM088 MIFTS: 18	Immunodeficiency 36 Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Name: Immunodeficiency 36 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Imd36 ⁵⁷ ⁷⁵

Immunodeficiency, Type 36 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
four patients from 3 families have been reported (last curated september 2014)

HPO:

³²

immunodeficiency 36:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616005

MedGen ⁴² C4014934 CN219437

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 263681008 428875002 234532001 more

UMLS ⁷³ C4014934

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Summaries for Immunodeficiency 36

OMIM : ⁵⁷ IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016). (616005)

MalaCards based summary : Immunodeficiency 36, is also known as imd36. An important gene associated with Immunodeficiency 36 is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 36: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections.

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Related Diseases for Immunodeficiency 36

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Symptoms & Phenotypes for Immunodeficiency 36

Symptoms via clinical synopsis from OMIM:

⁵⁷

AbdomenSpleen:
splenomegaly

Growth Height:
short stature

Growth Other:
poor growth

Respiratory Airways:
bronchiectasis (in some patients)

Neoplasia:
classic hodgkin lymphoma (in some patients)
b-cell lymphoma (in some patients)
chronic lymphocytic leukemia (rare)

Respiratory:
recurrent respiratory infections
upper respiratory tract lymphoid hyperplasia

Immunology:
recurrent bacterial infections
hypogammaglobulinemia
primary immunodeficiency
b-cell lymphopenia
decreased memory b cells
more

Abdomen Gastrointestinal:
chronic diarrhea (in some patients)

Neurologic Central Nervous System:
neurodevelopmental delay, mild (in some patients)

Clinical features from OMIM:

616005

Human phenotypes related to Immunodeficiency 36:

³²

#	Description	HPO Source Accession
1	recurrent respiratory infections ³²	HP:0002205
2	immunodeficiency ³²	HP:0002721
3	decreased antibody level in blood ³²	HP:0004313
4	recurrent bacterial infections ³²	HP:0002718

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Drugs & Therapeutics for Immunodeficiency 36

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 36

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Genetic Tests for Immunodeficiency 36

Genetic tests related to Immunodeficiency 36:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 36 ²⁹	PIK3R1

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Anatomical Context for Immunodeficiency 36

MalaCards organs/tissues related to Immunodeficiency 36:

⁴¹

B Cells, T Cells

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Publications for Immunodeficiency 36

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Genes for Immunodeficiency 36

Genes related to Immunodeficiency 36 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1027.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25488983 25939554 27076228 (more) 27221134 7705412

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Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

⁶

(show all 48)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PIK3R1	NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp)	single nucleotide variant	Pathogenic	rs397515453	GRCh37	Chromosome 5, 67592129: 67592129
2	PIK3R1	NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp)	single nucleotide variant	Pathogenic	rs397515453	GRCh38	Chromosome 5, 68296301: 68296301
3	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> T	single nucleotide variant	Pathogenic	rs587777709	GRCh38	Chromosome 5, 68293835: 68293835
4	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> T	single nucleotide variant	Pathogenic	rs587777709	GRCh37	Chromosome 5, 67589663: 67589663
5	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> C	single nucleotide variant	Pathogenic	rs587777709	GRCh38	Chromosome 5, 68293835: 68293835
6	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> C	single nucleotide variant	Pathogenic	rs587777709	GRCh37	Chromosome 5, 67589663: 67589663
7	PIK3R1	NM_181523.2(PIK3R1): c.621T> C (p.Ile207=)	single nucleotide variant	Benign/Likely benign	rs61749601	GRCh37	Chromosome 5, 67575548: 67575548
8	PIK3R1	NM_181523.2(PIK3R1): c.621T> C (p.Ile207=)	single nucleotide variant	Benign/Likely benign	rs61749601	GRCh38	Chromosome 5, 68279720: 68279720
9	PIK3R1	NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=)	single nucleotide variant	Benign/Likely benign	rs3730090	GRCh37	Chromosome 5, 67589188: 67589188
10	PIK3R1	NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=)	single nucleotide variant	Benign/Likely benign	rs3730090	GRCh38	Chromosome 5, 68293360: 68293360
11	PIK3R1	NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=)	single nucleotide variant	Benign/Likely benign	rs3729981	GRCh37	Chromosome 5, 67593363: 67593363
12	PIK3R1	NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=)	single nucleotide variant	Benign/Likely benign	rs3729981	GRCh38	Chromosome 5, 68297535: 68297535
13	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> A	single nucleotide variant	Pathogenic	rs587777709	GRCh37	Chromosome 5, 67589663: 67589663
14	PIK3R1	NM_181523.2(PIK3R1): c.1425+1G> A	single nucleotide variant	Pathogenic	rs587777709	GRCh38	Chromosome 5, 68293835: 68293835
15	PIK3R1	NM_181523.2(PIK3R1): c.634+8T> C	single nucleotide variant	Likely benign	rs368138177	GRCh37	Chromosome 5, 67575569: 67575569
16	PIK3R1	NM_181523.2(PIK3R1): c.634+8T> C	single nucleotide variant	Likely benign	rs368138177	GRCh38	Chromosome 5, 68279741: 68279741
17	PIK3R1	NM_181523.2(PIK3R1): c.1425+2T> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 5, 67589664: 67589664
18	PIK3R1	NM_181523.2(PIK3R1): c.1425+2T> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 5, 68293836: 68293836
19	PIK3R1	NM_181523.2(PIK3R1): c.1425+2T> G	single nucleotide variant	Pathogenic		GRCh38	Chromosome 5, 68293836: 68293836
20	PIK3R1	NM_181523.2(PIK3R1): c.1425+2T> G	single nucleotide variant	Pathogenic		GRCh37	Chromosome 5, 67589664: 67589664
21	PIK3R1	NM_181523.2(PIK3R1): c.1425+2_1425+3del	deletion	Pathogenic		GRCh38	Chromosome 5, 68293836: 68293837
22	PIK3R1	NM_181523.2(PIK3R1): c.1425+2_1425+3del	deletion	Pathogenic		GRCh37	Chromosome 5, 67589664: 67589665
23	PIK3R1	NM_181523.2(PIK3R1): c.1300-1G> C	single nucleotide variant	Pathogenic		GRCh37	Chromosome 5, 67589536: 67589536
24	PIK3R1	NM_181523.2(PIK3R1): c.1300-1G> C	single nucleotide variant	Pathogenic		GRCh38	Chromosome 5, 68293708: 68293708
25	PIK3R1	NM_181523.2(PIK3R1): c.837-7C> T	single nucleotide variant	Benign	rs571365105	GRCh37	Chromosome 5, 67576748: 67576748
26	PIK3R1	NM_181523.2(PIK3R1): c.837-7C> T	single nucleotide variant	Benign	rs571365105	GRCh38	Chromosome 5, 68280920: 68280920
27	PIK3R1	NM_181523.2(PIK3R1): c.571C> T (p.Leu191=)	single nucleotide variant	Benign	rs533077843	GRCh37	Chromosome 5, 67575498: 67575498
28	PIK3R1	NM_181523.2(PIK3R1): c.571C> T (p.Leu191=)	single nucleotide variant	Benign	rs533077843	GRCh38	Chromosome 5, 68279670: 68279670
29	PIK3R1	NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser)	single nucleotide variant	Uncertain significance	rs142439210	GRCh37	Chromosome 5, 67588131: 67588131
30	PIK3R1	NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser)	single nucleotide variant	Uncertain significance	rs142439210	GRCh38	Chromosome 5, 68292303: 68292303
31	PIK3R1	NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr)	single nucleotide variant	Uncertain significance	rs150689648	GRCh37	Chromosome 5, 67522568: 67522568
32	PIK3R1	NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr)	single nucleotide variant	Uncertain significance	rs150689648	GRCh38	Chromosome 5, 68226740: 68226740
33	PIK3R1	NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn)	single nucleotide variant	Uncertain significance	rs755043940	GRCh37	Chromosome 5, 67522705: 67522705
34	PIK3R1	NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn)	single nucleotide variant	Uncertain significance	rs755043940	GRCh38	Chromosome 5, 68226877: 68226877
35	PIK3R1	NM_181523.2(PIK3R1): c.687G> A (p.Ser229=)	single nucleotide variant	Benign	rs34175949	GRCh37	Chromosome 5, 67576408: 67576408
36	PIK3R1	NM_181523.2(PIK3R1): c.687G> A (p.Ser229=)	single nucleotide variant	Benign	rs34175949	GRCh38	Chromosome 5, 68280580: 68280580
37	PIK3R1	NM_181523.2(PIK3R1): c.195A> G (p.Glu65=)	single nucleotide variant	Benign	rs73768883	GRCh37	Chromosome 5, 67522698: 67522698
38	PIK3R1	NM_181523.2(PIK3R1): c.195A> G (p.Glu65=)	single nucleotide variant	Benign	rs73768883	GRCh38	Chromosome 5, 68226870: 68226870
39	PIK3R1	NM_181523.2(PIK3R1): c.1300-10A> C	single nucleotide variant	Likely benign	rs377666209	GRCh38	Chromosome 5, 68293699: 68293699
40	PIK3R1	NM_181523.2(PIK3R1): c.1300-10A> C	single nucleotide variant	Likely benign	rs377666209	GRCh37	Chromosome 5, 67589527: 67589527
41	PIK3R1	NM_181523.2(PIK3R1): c.1019+6G> C	single nucleotide variant	Uncertain significance	rs749016701	GRCh37	Chromosome 5, 67588195: 67588195
42	PIK3R1	NM_181523.2(PIK3R1): c.1019+6G> C	single nucleotide variant	Uncertain significance	rs749016701	GRCh38	Chromosome 5, 68292367: 68292367
43	PIK3R1	NM_181523.2(PIK3R1): c.1020-3C> T	single nucleotide variant	Uncertain significance	rs200653607	GRCh37	Chromosome 5, 67588926: 67588926
44	PIK3R1	NM_181523.2(PIK3R1): c.1020-3C> T	single nucleotide variant	Uncertain significance	rs200653607	GRCh38	Chromosome 5, 68293098: 68293098
45	PIK3R1	NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=)	single nucleotide variant	Likely benign	rs754454562	GRCh37	Chromosome 5, 67589633: 67589633
46	PIK3R1	NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=)	single nucleotide variant	Likely benign	rs754454562	GRCh38	Chromosome 5, 68293805: 68293805
47	PIK3R1	NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=)	single nucleotide variant	Likely benign	rs149905863	GRCh37	Chromosome 5, 67589197: 67589197
48	PIK3R1	NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=)	single nucleotide variant	Likely benign	rs149905863	GRCh38	Chromosome 5, 68293369: 68293369

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Expression for Immunodeficiency 36

Search GEO for disease gene expression data for Immunodeficiency 36.

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Pathways for Immunodeficiency 36

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GO Terms for Immunodeficiency 36

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Sources for Immunodeficiency 36

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