Immunodeficiency 51 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMD51 MCID: IMM153 MIFTS: 38	Immunodeficiency 51 (IMD51) Categories: Genetic diseases, Immune diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 51

MalaCards integrated aliases for Immunodeficiency 51:

Name: Immunodeficiency 51 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵

Imd51 ⁵⁷ ¹² ⁷²

Candidiasis, Familial, 5 ⁷² ⁷⁰

Candf5 ¹² ⁷²

Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive ⁷²

Candidiasis, Familial, 5, Formerly; Candf5, Formerly ⁵⁷

Candidiasis, Familial, 5, Autosomal Recessive ¹³

Candidiasis Familial 5 Autosomal Recessive ⁷²

Chronic Mucocutaneous Candidiasis 5 ⁷²

Candidiasis, Familial, 5, Formerly ⁵⁷

Candidiasis, Familial, Type 5 ³⁹

Familial Candidiasis 5 ¹²

Candf5, Formerly ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life

HPO:

³¹

immunodeficiency 51:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111996

OMIM® ⁵⁷ 613953

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D002178

MedGen ⁴¹ C3151402 C4310803

SNOMED-CT via HPO ⁶⁸ 103605005 195788001 234568006 more

UMLS ⁷⁰ C3151402

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Summaries for Immunodeficiency 51

OMIM® : ⁵⁷ Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016). (613953) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 51, also known as imd51, is related to candidiasis, familial, 2 and candidiasis, familial, 8. An important gene associated with Immunodeficiency 51 is IL17RA (Interleukin 17 Receptor A), and among its related pathways/superpathways are ERK Signaling and Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and recurrent otitis media

Disease Ontology : ¹² A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has material basis in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1.

UniProtKB/Swiss-Prot : ⁷² Immunodeficiency 51: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

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Related Diseases for Immunodeficiency 51

Diseases related to Immunodeficiency 51 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	candidiasis, familial, 2	11.7
2	candidiasis, familial, 8	11.6
3	kagami-ogata syndrome	9.6	SLC32A1 NRG1

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Symptoms & Phenotypes for Immunodeficiency 51

Human phenotypes related to Immunodeficiency 51:

³¹ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	recurrent respiratory infections ³¹	occasional (7.5%)	HP:0002205
2	recurrent otitis media ³¹		HP:0000403
3	pustule ³¹		HP:0200039
4	recurrent staphylococcus aureus infections ³¹		HP:0002726
5	chronic furunculosis ³¹		HP:0011132
6	chronic mucocutaneous candidiasis ³¹		HP:0002728
7	recurrent bronchitis ³¹		HP:0002837
8	recurrent sinusitis ³¹		HP:0011108
9	cutaneous abscess ³¹		HP:0031292
10	folliculitis ³¹		HP:0025084

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Mouth:
oral thrush

Respiratory:
recurrent respiratory infections (in some patients)

Skin Nails Hair Skin:
staphylococcal infections, recurrent cutaneous candidiasis

Head And Neck Ears:
otitis, recurrent (in some patients)

Respiratory Lung:
lobar pneumonia (in some patients)

Immunology:
susceptibility to chronic mucocutaneous candidiasis
susceptibility to staphylococcal skin infections
susceptibility to other bacterial infections (in some patients)
impaired cellular response to stimulation with certain il17 isoforms

Clinical features from OMIM®:

613953 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability ratio	GR00368-A	8.92	APH1A IL17RA NRG1 SLC32A1

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Drugs & Therapeutics for Immunodeficiency 51

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 51

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Genetic Tests for Immunodeficiency 51

Genetic tests related to Immunodeficiency 51:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 51 ²⁹	IL17RA

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Anatomical Context for Immunodeficiency 51

MalaCards organs/tissues related to Immunodeficiency 51:

⁴⁰

Skin

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Publications for Immunodeficiency 51

Articles related to Immunodeficiency 51:

#	Title	Authors	PMID	Year
1	Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. ⁶ ⁵⁷	Levy R...Puel A	27930337	2016
2	Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. ⁶ ⁵⁷	Puel A...Casanova JL	21350122	2011
3	Influenza A inhibits Th17-mediated host defense against bacterial pneumonia in mice. ⁵⁷	Kudva A...Alcorn JF	21178015	2011
4	IL-17 receptor knockout mice have enhanced myelotoxicity and impaired hemopoietic recovery following gamma irradiation. ⁵⁷	Tan W...Schwarzenberger P	16670328	2006
5	An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency. ⁶¹	Hafliger IM...Luhken G	32448141	2020
6	The prognostic significance of EBV DNA load and EBER status in diagnostic specimens from diffuse large B-cell lymphoma patients. ⁶¹	Okamoto A...Emi N	26177728	2017

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Genes for Immunodeficiency 51

Genes related to Immunodeficiency 51 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IL17RA	Interleukin 17 Receptor A	Protein Coding	1050.21	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21350122 27930337
2	APH1B	Aph-1 Homolog B, Gamma-Secretase Subunit	Protein Coding	5.53	DISEASES inferred ¹⁵
3	NRG1	Neuregulin 1	Protein Coding	5.27	DISEASES inferred ¹⁵
4	APH1A	Aph-1 Homolog A, Gamma-Secretase Subunit	Protein Coding	4.67	DISEASES inferred ¹⁵
5	SLC32A1	Solute Carrier Family 32 Member 1	Protein Coding	4.62	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 51

ClinVar genetic disease variations for Immunodeficiency 51:

⁶ (show top 50) (show all 366)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IL17RA	NM_014339.6(IL17RA):c.850C>T (p.Gln284Ter)	SNV	Pathogenic	30486	rs387906913	GRCh37: 22:17585619-17585619 GRCh38: 22:17104729-17104729
2	IL17RA	NM_014339.6(IL17RA):c.1302_1318dup (p.Asn440fs)	Duplication	Pathogenic	372204	rs1057518744	GRCh37: 22:17589406-17589407 GRCh38: 22:17108516-17108517
3	IL17RA	NM_014339.6(IL17RA):c.268del (p.Leu90fs)	Deletion	Pathogenic	372207	rs1057518746	GRCh37: 22:17578790-17578790 GRCh38: 22:17097900-17097900
4	IL17RA	NM_001289905.1(IL17RA):c.764_768CCAGA[1] (p.Pro257fs)	Microsatellite	Pathogenic	372208	rs1057518747	GRCh37: 22:17584385-17584389 GRCh38: 22:17103495-17103499
5	IL17RA	NM_014339.6(IL17RA):c.1159G>A (p.Asp387Asn)	SNV	Pathogenic	372205	rs1057519079	GRCh37: 22:17589268-17589268 GRCh38: 22:17108378-17108378
6	IL17RA	NM_014339.6(IL17RA):c.196C>T (p.Arg66Ter)	SNV	Pathogenic	372206	rs1057518745	GRCh37: 22:17578719-17578719 GRCh38: 22:17097829-17097829
7	IL17RA	NM_014339.6(IL17RA):c.787C>T (p.Arg263Ter)	SNV	Pathogenic	580706	rs778624945	GRCh37: 22:17584408-17584408 GRCh38: 22:17103518-17103518
8	IL17RA	NM_014339.6(IL17RA):c.166_169dup (p.Cys57fs)	Duplication	Pathogenic	649522	rs1601340933	GRCh37: 22:17578687-17578688 GRCh38: 22:17097797-17097798
9	IL17RA	NM_014339.7(IL17RA):c.233del (p.Ile78fs)	Deletion	Pathogenic	857687		GRCh37: 22:17578756-17578756 GRCh38: 22:17097866-17097866
10	IL17RA	NM_014339.7(IL17RA):c.1661C>A (p.Ser554Ter)	SNV	Pathogenic	1033286		GRCh37: 22:17589770-17589770 GRCh38: 22:17108880-17108880
11	IL17RA	NM_014339.6(IL17RA):c.310+2T>C	SNV	Likely pathogenic	578680	rs201128237	GRCh37: 22:17578835-17578835 GRCh38: 22:17097945-17097945
12	IL17RA	NM_014339.6(IL17RA):c.1174G>T (p.Val392Leu)	SNV	Conflicting interpretations of pathogenicity	542925	rs146478431	GRCh37: 22:17589283-17589283 GRCh38: 22:17108393-17108393
13	IL17RA	NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)	SNV	Conflicting interpretations of pathogenicity	719755	rs151166583	GRCh37: 22:17589341-17589341 GRCh38: 22:17108451-17108451
14	IL17RA	NM_014339.6(IL17RA):c.1045+7G>A	SNV	Conflicting interpretations of pathogenicity	340589	rs572837622	GRCh37: 22:17586851-17586851 GRCh38: 22:17105961-17105961
15	IL17RA	NM_014339.6(IL17RA):c.1045+6C>T	SNV	Conflicting interpretations of pathogenicity	340588	rs763664351	GRCh37: 22:17586850-17586850 GRCh38: 22:17105960-17105960
16	IL17RA	NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)	SNV	Conflicting interpretations of pathogenicity	749414	rs558799480	GRCh37: 22:17583071-17583071 GRCh38: 22:17102181-17102181
17	IL17RA	NM_014339.6(IL17RA):c.1046G>C (p.Gly349Ala)	SNV	Conflicting interpretations of pathogenicity	340590	rs143897670	GRCh37: 22:17588617-17588617 GRCh38: 22:17107727-17107727
18	IL17RA	NM_014339.6(IL17RA):c.465G>C (p.Gln155His)	SNV	Conflicting interpretations of pathogenicity	340573	rs142199303	GRCh37: 22:17581286-17581286 GRCh38: 22:17100396-17100396
19	IL17RA	NM_014339.7(IL17RA):c.30T>A (p.Ala10=)	SNV	Conflicting interpretations of pathogenicity	714588	rs577217331	GRCh37: 22:17566011-17566011 GRCh38: 22:17085121-17085121
20	IL17RA	NM_014339.7(IL17RA):c.978G>A (p.Thr326=)	SNV	Conflicting interpretations of pathogenicity	720214	rs143239201	GRCh37: 22:17586777-17586777 GRCh38: 22:17105887-17105887
21	IL17RA	NM_014339.6(IL17RA):c.2466G>A (p.Gly822=)	SNV	Conflicting interpretations of pathogenicity	340612	rs373070776	GRCh37: 22:17590575-17590575 GRCh38: 22:17109685-17109685
22	IL17RA	NM_014339.6(IL17RA):c.1728C>T (p.Asp576=)	SNV	Conflicting interpretations of pathogenicity	340604	rs767714232	GRCh37: 22:17589837-17589837 GRCh38: 22:17108947-17108947
23	IL17RA	NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg)	SNV	Conflicting interpretations of pathogenicity	340587	rs140221307	GRCh37: 22:17586757-17586757 GRCh38: 22:17105867-17105867
24	IL17RA	NM_014339.6(IL17RA):c.152C>T (p.Thr51Met)	SNV	Conflicting interpretations of pathogenicity	340565	rs143008696	GRCh37: 22:17577965-17577965 GRCh38: 22:17097075-17097075
25	IL17RA	NM_014339.6(IL17RA):c.676G>C (p.Glu226Gln)	SNV	Conflicting interpretations of pathogenicity	340579	rs144085995	GRCh37: 22:17583106-17583106 GRCh38: 22:17102216-17102216
26	IL17RA	NM_014339.6(IL17RA):c.1493C>T (p.Thr498Ile)	SNV	Conflicting interpretations of pathogenicity	476362	rs41529049	GRCh37: 22:17589602-17589602 GRCh38: 22:17108712-17108712
27	IL17RA	NM_014339.6(IL17RA):c.1407C>T (p.Cys469=)	SNV	Conflicting interpretations of pathogenicity	340597	rs41396346	GRCh37: 22:17589516-17589516 GRCh38: 22:17108626-17108626
28	IL17RA	NM_014339.6(IL17RA):c.926C>T (p.Thr309Ile)	SNV	Uncertain significance	542912	rs776247658	GRCh37: 22:17585695-17585695 GRCh38: 22:17104805-17104805
29	IL17RA	NM_014339.6(IL17RA):c.812G>A (p.Arg271His)	SNV	Uncertain significance	340580	rs775839180	GRCh37: 22:17584433-17584433 GRCh38: 22:17103543-17103543
30	IL17RA	NM_014339.6(IL17RA):c.2087T>G (p.Leu696Arg)	SNV	Uncertain significance	542914	rs753376068	GRCh37: 22:17590196-17590196 GRCh38: 22:17109306-17109306
31	IL17RA	NM_014339.6(IL17RA):c.1918G>A (p.Gly640Arg)	SNV	Uncertain significance	542915	rs1221696207	GRCh37: 22:17590027-17590027 GRCh38: 22:17109137-17109137
32	IL17RA	NM_014339.6(IL17RA):c.2077C>T (p.Arg693Trp)	SNV	Uncertain significance	542916	rs767291636	GRCh37: 22:17590186-17590186 GRCh38: 22:17109296-17109296
33	IL17RA	NM_014339.6(IL17RA):c.2239C>A (p.His747Asn)	SNV	Uncertain significance	542917	rs753883526	GRCh37: 22:17590348-17590348 GRCh38: 22:17109458-17109458
34	IL17RA	NM_014339.6(IL17RA):c.1426G>A (p.Gly476Arg)	SNV	Uncertain significance	542919	rs763589779	GRCh37: 22:17589535-17589535 GRCh38: 22:17108645-17108645
35	IL17RA	NM_014339.6(IL17RA):c.70G>C (p.Gly24Arg)	SNV	Uncertain significance	476367	rs41510847	GRCh37: 22:17566051-17566051 GRCh38: 22:17085161-17085161
36	IL17RA	NM_014339.6(IL17RA):c.581C>T (p.Thr194Met)	SNV	Uncertain significance	476366	rs151220068	GRCh37: 22:17582916-17582916 GRCh38: 22:17102026-17102026
37	IL17RA	NM_014339.6(IL17RA):c.199A>G (p.Asn67Asp)	SNV	Uncertain significance	340566	rs886057201	GRCh37: 22:17578722-17578722 GRCh38: 22:17097832-17097832
38	IL17RA	NM_014339.6(IL17RA):c.1402C>T (p.Arg468Cys)	SNV	Uncertain significance	476361	rs1465132286	GRCh37: 22:17589511-17589511 GRCh38: 22:17108621-17108621
39	IL17RA	NM_014339.6(IL17RA):c.*5480T>A	SNV	Uncertain significance	340731	rs556640863	GRCh37: 22:17596190-17596190 GRCh38: 22:17115300-17115300
40	IL17RA	NM_014339.6(IL17RA):c.*2859C>T	SNV	Uncertain significance	340668	rs562668645	GRCh37: 22:17593569-17593569 GRCh38: 22:17112679-17112679
41	IL17RA	NM_014339.6(IL17RA):c.*4649G>T	SNV	Uncertain significance	340714	rs886057235	GRCh37: 22:17595359-17595359 GRCh38: 22:17114469-17114469
42	IL17RA	NM_014339.6(IL17RA):c.1675C>G (p.Leu559Val)	SNV	Uncertain significance	568916	rs751753949	GRCh37: 22:17589784-17589784 GRCh38: 22:17108894-17108894
43	IL17RA	NM_014339.6(IL17RA):c.2553C>A (p.Asn851Lys)	SNV	Uncertain significance	571288	rs1281144372	GRCh37: 22:17590662-17590662 GRCh38: 22:17109772-17109772
44	IL17RA	NM_014339.6(IL17RA):c.2476C>G (p.Leu826Val)	SNV	Uncertain significance	571940	rs1568924494	GRCh37: 22:17590585-17590585 GRCh38: 22:17109695-17109695
45	IL17RA	NM_014339.6(IL17RA):c.2177C>T (p.Ser726Leu)	SNV	Uncertain significance	340609	rs756332306	GRCh37: 22:17590286-17590286 GRCh38: 22:17109396-17109396
46	IL17RA	NM_014339.6(IL17RA):c.1086C>A (p.Thr362=)	SNV	Uncertain significance	573226	rs139716919	GRCh37: 22:17588657-17588657 GRCh38: 22:17107767-17107767
47	IL17RA	NM_014339.6(IL17RA):c.2144G>A (p.Ser715Asn)	SNV	Uncertain significance	574324	rs747892404	GRCh37: 22:17590253-17590253 GRCh38: 22:17109363-17109363
48	IL17RA	NM_014339.6(IL17RA):c.133C>A (p.Gln45Lys)	SNV	Uncertain significance	575944	rs1006074686	GRCh37: 22:17566114-17566114 GRCh38: 22:17085224-17085224
49	IL17RA	NM_014339.6(IL17RA):c.1102G>A (p.Ala368Thr)	SNV	Uncertain significance	576353	rs1568923119	GRCh37: 22:17589211-17589211 GRCh38: 22:17108321-17108321
50	IL17RA	NM_014339.6(IL17RA):c.1081T>C (p.Tyr361His)	SNV	Uncertain significance	577037	rs34545718	GRCh37: 22:17588652-17588652 GRCh38: 22:17107762-17107762

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Expression for Immunodeficiency 51

Search GEO for disease gene expression data for Immunodeficiency 51.

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Pathways for Immunodeficiency 51

Pathways related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.21	NRG1 IL17RA APH1B APH1A
2	Development NOTCH1-mediated pathway for NF-KB activity modulation ²³ Show member pathways Development Notch Signaling Pathway ²³ Transcription Sin3 and NuRD in transcription regulation ²³	11.69	APH1B APH1A
3	Presenilin-Mediated Signaling ⁶³	11.56	APH1B APH1A
4	NOTCH2 Activation and Transmission of Signal to the Nucleus ⁶⁵ Show member pathways Activated NOTCH1 Transmits Signal to the Nucleus ⁶⁵ Constitutive Signaling by NOTCH1 HD Domain Mutants ⁶⁵ Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant ⁶⁵ NOTCH2 intracellular domain regulates transcription ⁶⁵ Signaling by NOTCH1 HD Domain Mutants in Cancer ⁶⁵ Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant ⁶⁵ Signaling by NOTCH2 ⁶⁵	11.52	APH1B APH1A
5	p75(NTR)-mediated signaling ¹ Show member pathways Ceramide signalling ⁶⁵ NFG and proNGF binds to p75NTR ⁶⁵	11.14	APH1B APH1A
6	Notch Signaling Pathway (sino) ⁶⁶	11.03	APH1B APH1A
7	Signaling by ERBB4 ⁶⁵ Show member pathways Downregulation of ERBB4 signaling ⁶⁵ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁵	10.83	NRG1 APH1B APH1A
8	Presenilin action in Notch and Wnt signaling ¹	10.82	APH1B APH1A
9	Syndecan-3-mediated signaling events ¹	10.19	APH1B APH1A

Sources

GO Terms for Immunodeficiency 51

Cellular components related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.77	SLC32A1 NRG1 IL17RA APH1B APH1A
2	plasma membrane	GO:0005886	9.72	SLC32A1 NRG1 IL17RA APH1B APH1A
3	synaptic vesicle	GO:0008021	9.26	SLC32A1 APH1A
4	integral component of plasma membrane	GO:0005887	9.26	NRG1 IL17RA APH1B APH1A
5	GABA-ergic synapse	GO:0098982	9.16	SLC32A1 NRG1
6	gamma-secretase complex	GO:0070765	8.62	APH1B APH1A

Biological processes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	Notch signaling pathway	GO:0007219	9.49	APH1B APH1A
2	ephrin receptor signaling pathway	GO:0048013	9.48	APH1B APH1A
3	locomotory behavior	GO:0007626	9.46	NRG1 APH1B
4	protein processing	GO:0016485	9.43	APH1B APH1A
5	positive regulation of catalytic activity	GO:0043085	9.4	APH1B APH1A
6	membrane protein intracellular domain proteolysis	GO:0031293	9.37	APH1B APH1A
7	amyloid precursor protein catabolic process	GO:0042987	9.32	APH1B APH1A
8	positive regulation of endopeptidase activity	GO:0010950	9.26	APH1B APH1A
9	amyloid-beta formation	GO:0034205	9.16	APH1B APH1A
10	Notch receptor processing	GO:0007220	8.96	APH1B APH1A
11	Notch receptor processing, ligand-dependent	GO:0035333	8.62	APH1B APH1A

Molecular functions related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding, bridging	GO:0030674	9.16	APH1B APH1A
2	endopeptidase activity	GO:0004175	8.96	APH1B APH1A
3	endopeptidase activator activity	GO:0061133	8.62	APH1B APH1A

Sources

Sources for Immunodeficiency 51

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Immunodeficiency 51 (IMD51)

Aliases & Classifications for Immunodeficiency 51

MalaCards integrated aliases for Immunodeficiency 51:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 51

Related Diseases for Immunodeficiency 51

Diseases related to Immunodeficiency 51 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Immunodeficiency 51

Human phenotypes related to Immunodeficiency 51:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Immunodeficiency 51

Genetic Tests for Immunodeficiency 51

Genetic tests related to Immunodeficiency 51:

Anatomical Context for Immunodeficiency 51

MalaCards organs/tissues related to Immunodeficiency 51:

Publications for Immunodeficiency 51

Articles related to Immunodeficiency 51:

Genes for Immunodeficiency 51

Genes related to Immunodeficiency 51 (1 elite genes):

Variations for Immunodeficiency 51

ClinVar genetic disease variations for Immunodeficiency 51:

Expression for Immunodeficiency 51

Pathways for Immunodeficiency 51

Pathways related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 51

Cellular components related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 51