Immunodeficiency 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Cd3-Delta Deficiency ⁵⁶ ⁷³

Cd3delta Deficiency ¹² ¹⁵

Imd19 ⁵⁶ ⁷³

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁶

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency ⁷³

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁶

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid ⁷³

Immunodeficiency, Type 19 ³⁹

Cd3d ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation

HPO:

³¹

immunodeficiency 19:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060016

OMIM ⁵⁶ 615617

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ D007153

MedGen ⁴¹ C3810147 CN184331

SNOMED-CT via HPO ⁶⁸ 234532001 258211005 267060006 more

UMLS ⁷¹ C3810147

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Summaries for Immunodeficiency 19

OMIM : ⁵⁶ Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617)

MalaCards based summary : Immunodeficiency 19, also known as cd3-delta deficiency, is related to cd3zeta deficiency and immunodeficiency 17, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Development Angiotensin activation of ERK. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are recurrent respiratory infections and failure to thrive

Disease Ontology : ¹² A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.

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Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)

#	Related Disease	Score	Top Affiliating Genes
1	cd3zeta deficiency	31.7	CD3G CD3D
2	immunodeficiency 17	31.7	CD3G CD3D
3	adenosine deaminase deficiency	31.5	CD3D ADA
4	immunodeficiency 18	31.2	PTCRA CD3G CD3D
5	bare lymphocyte syndrome, type ii	30.9	ZAP70 CD3D
6	coronin-1a deficiency	30.8	DOCK2 CORO1A CD3D
7	omenn syndrome	30.0	ZAP70 CORO1A CD3G CD3D ADA
8	combined t cell and b cell immunodeficiency	30.0	ZAP70 CORO1A CD3G CD3D ADA
9	severe combined immunodeficiency	28.6	ZAP70 CORO1A CD3G CD3D ADA
10	immunodeficiency 49	12.2
11	diabetes mellitus, type i	11.6
12	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	11.3
13	aplastic anemia	11.3
14	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	11.1
15	melioidosis	10.9
16	cutaneous leishmaniasis	10.9
17	leukemia, acute lymphoblastic	10.3
18	colorectal cancer	10.2
19	leukemia, acute myeloid	10.2
20	acute leukemia	10.2
21	colon adenocarcinoma	10.2
22	t-cell acute lymphoblastic leukemia	10.2
23	myeloid leukemia	10.2
24	inflammatory bowel disease	9.7
25	t cell deficiency	9.7	ZAP70 CORO1A
26	purine nucleoside phosphorylase deficiency	9.7	ZAP70 ADA
27	prolymphocytic leukemia	9.5	ZAP70 ADA
28	t-cell lymphoblastic leukemia/lymphoma	9.1	ZAP70 PTCRA CD3G ADA
29	lymphopenia	8.6	ZAP70 DOCK2 CORO1A CD3G ADA

Graphical network of the top 20 diseases related to Immunodeficiency 19:

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Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

³¹ (show all 6)

#	Description	HPO Source Accession
1	recurrent respiratory infections ³¹	HP:0002205
2	failure to thrive ³¹	HP:0001508
3	immunodeficiency ³¹	HP:0002721
4	recurrent otitis media ³¹	HP:0000403
5	lymphopenia ³¹	HP:0001888
6	diarrhea ³¹	HP:0002014

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Ears:
otitis media, recurrent

Immunology:
lymphopenia
primary immunodeficiency
recurrent infections, bacterial, viral, and fungal
normal b cells
normal nk cells
more

Respiratory:
respiratory infections, recurrent

Head And Neck Mouth:
thrush

Clinical features from OMIM:

615617

UMLS symptoms related to Immunodeficiency 19:

diarrhea

MGI Mouse Phenotypes related to Immunodeficiency 19:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.55	ADA CD3G CORO1A PTCRA ZAP70
2	hematopoietic system	MP:0005397	9.5	ADA CD3D CD3G CORO1A DOCK2 PTCRA
3	immune system	MP:0005387	9.17	ADA CD3D CD3G CORO1A DOCK2 PTCRA

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Drugs & Therapeutics for Immunodeficiency 19

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 19

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Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 19 ²⁹	CD3D

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Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

⁴⁰

B Cells, T Cells, Nk Cells, Bone Marrow, Bone

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Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

#	Title	Authors	PMID	Year
1	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ⁶ ⁵⁶	Yu GP...Cowan MJ	21883749	2011
2	A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. ⁵⁶ ⁶	Gil J...Regueiro JR	21926461	2011
3	Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. ⁶ ⁵⁶	Dadi HK...Roifman CM	14602880	2003
4	Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. ⁵⁶	de Saint Basile G...Le Deist F	15546002	2004
5	CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. ⁶	Delgado P...Alarcon B	10935641	2000
6	Acute hypoxemic respiratory failure in children following bone marrow transplantation: an outcome and pathologic study. ⁶¹	Bojko T...Godwin T	7712767	1995

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Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD3D	CD3d Molecule	Protein Coding	1025.87	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	14602880 21883749 21926461 (more) 10935641
2	CD3G	CD3g Molecule	Protein Coding	7.34	DISEASES inferred ¹⁵
3	CORO1A	Coronin 1A	Protein Coding	5.8	DISEASES inferred ¹⁵
4	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	5.77	DISEASES inferred ¹⁵
5	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	5.47	DISEASES inferred ¹⁵
6	DOCK2	Dedicator Of Cytokinesis 2	Protein Coding	5.4	DISEASES inferred ¹⁵
7	ADA	Adenosine Deaminase	Protein Coding	5.31	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

⁶ (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	subset of 33 genes: ARCN1 , HMBS , KMT2A	NC_000011.9:g.(?_117856768)_(118972385_?)del	deletion	Pathogenic	831101		11:117856768-118972385
2	CD3D	NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)	SNV	Pathogenic	643120		11:118211236-118211236	11:118340521-118340521
3	CD3D	NM_000732.4(CD3D):c.274+5G>A	SNV	Pathogenic	180674	rs730880296	11:118211085-118211085	11:118340370-118340370
4	CD3D	NM_000732.4(CD3D):c.202C>T (p.Arg68Ter)	SNV	Pathogenic	12747	rs111033580	11:118211162-118211162	11:118340447-118340447
5	CD3D	NM_001040651.2(CD3D):c.275-408C>A	SNV	Pathogenic	12748	rs111033581	11:118210617-118210617	11:118339902-118339902
6	CD3D	NM_000732.4(CD3D):c.450+6C>T	SNV	Uncertain significance	35805	rs193922617	11:118210160-118210160	11:118339445-118339445
7	CD3D	NM_000732.4(CD3D):c.121A>G (p.Ile41Val)	SNV	Uncertain significance	302672	rs886047737	11:118211243-118211243	11:118340528-118340528
8	CD3D	NM_000732.4(CD3D):c.-128G>T	SNV	Uncertain significance	302677	rs200171722	11:118213450-118213450	11:118342735-118342735
9	CD3D	NM_000732.4(CD3D):c.-93C>T	SNV	Uncertain significance	302676	rs772705529	11:118213415-118213415	11:118342700-118342700
10	CD3D	NM_000732.4(CD3D):c.274+4C>T	SNV	Uncertain significance	302671	rs201299420	11:118211086-118211086	11:118340371-118340371
11	CD3D	NM_000732.4(CD3D):c.-46T>C	SNV	Uncertain significance	302675	rs886047740	11:118213368-118213368	11:118342653-118342653
12	CD3D	NM_000732.4(CD3D):c.510C>T (p.Asn170=)	SNV	Uncertain significance	302670	rs146997233	11:118209883-118209883	11:118339168-118339168
13	CD3D	NM_000732.4(CD3D):c.-44G>A	SNV	Uncertain significance	302674	rs886047739	11:118213366-118213366	11:118342651-118342651
14	CD3D	NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)	SNV	Uncertain significance	658379		11:118211304-118211304	11:118340589-118340589
15	CD3D	NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)	SNV	Uncertain significance	849523		11:118209938-118209938	11:118339223-118339223
16	CD3D	NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)	SNV	Uncertain significance	846720		11:118210493-118210493	11:118339778-118339778
17	CD3D	NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)	SNV	Uncertain significance	840028		11:118210579-118210579	11:118339864-118339864
18	CD3D	NM_000732.6(CD3D):c.262G>A (p.Val88Ile)	SNV	Uncertain significance	844932		11:118211102-118211102	11:118340387-118340387
19	CD3D	NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)	SNV	Uncertain significance	842296		11:118211117-118211117	11:118340402-118340402
20	CD3D	NM_000732.6(CD3D):c.114T>A (p.Asn38Lys)	SNV	Uncertain significance	845145		11:118211250-118211250	11:118340535-118340535
21	CD3D	NM_000732.6(CD3D):c.112A>G (p.Asn38Asp)	SNV	Uncertain significance	848861		11:118211252-118211252	11:118340537-118340537
22	CD3D	NM_000732.6(CD3D):c.-8G>A	SNV	Uncertain significance	877885		11:118213330-118213330	11:118342615-118342615
23	CD3D	NM_000732.6(CD3D):c.-77G>A	SNV	Uncertain significance	877886		11:118213399-118213399	11:118342684-118342684
24	CD3D	NM_000732.6(CD3D):c.450+7G>T	SNV	Uncertain significance	879824		11:118210159-118210159	11:118339444-118339444
25	CD3D	NM_000732.4(CD3D):c.416C>T (p.Thr139Ile)	SNV	Uncertain significance	420806	rs527584796	11:118210200-118210200	11:118339485-118339485
26	CD3D	NM_000732.4(CD3D):c.463C>T (p.Arg155Ter)	SNV	Uncertain significance	474829	rs777721098	11:118209930-118209930	11:118339215-118339215
27	CD3D	NM_000732.4(CD3D):c.76A>G (p.Ile26Val)	SNV	Uncertain significance	541672	rs201374139	11:118211288-118211288	11:118340573-118340573
28	CD3D	NM_000732.4(CD3D):c.418C>A (p.Gln140Lys)	SNV	Uncertain significance	541673	rs201126605	11:118210198-118210198	11:118339483-118339483
29	CD3D	NM_000732.4(CD3D):c.244A>G (p.Lys82Glu)	SNV	Uncertain significance	541674	rs1555119773	11:118211120-118211120	11:118340405-118340405
30	CD3D	NM_000732.4(CD3D):c.485A>T (p.His162Leu)	SNV	Uncertain significance	639952		11:118209908-118209908	11:118339193-118339193
31	CD3D	NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)	SNV	Uncertain significance	653087		11:118209936-118209936	11:118339221-118339221
32	CD3D	NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)	SNV	Uncertain significance	645619		11:118210176-118210176	11:118339461-118339461
33	CD3D	NM_000732.4(CD3D):c.211T>C (p.Tyr71His)	SNV	Uncertain significance	656796		11:118211153-118211153	11:118340438-118340438
34	CD3D	NM_000732.4(CD3D):c.52C>A (p.Gln18Lys)	SNV	Likely benign	541671	rs141902449	11:118213271-118213271	11:118342556-118342556
35	CD3D	NM_000732.4(CD3D):c.275-5C>T	SNV	Likely benign	742068		11:118210626-118210626	11:118339911-118339911
36	CD3D	NM_000732.4(CD3D):c.360G>A (p.Leu120=)	SNV	Likely benign	763721		11:118210536-118210536	11:118339821-118339821
37	CD3D	NM_000732.4(CD3D):c.309C>T (p.Thr103=)	SNV	Likely benign	755525		11:118210587-118210587	11:118339872-118339872
38	CD3D	NM_000732.4(CD3D):c.202C>A (p.Arg68=)	SNV	Likely benign	761076		11:118211162-118211162	11:118340447-118340447
39	CD3D	NM_000732.4(CD3D):c.*59C>T	SNV	Benign	302669	rs113271462	11:118209818-118209818	11:118339103-118339103

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Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

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Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 25)

#	Super pathways	Score	Top Affiliating Genes
1	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.56	DOCK2 CD3G CD3D
2	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.51	ZAP70 CD3G CD3D
3	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.33	ZAP70 CD3G CD3D
4	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.28	ZAP70 CD3G CD3D
5	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁶ Th1 and Th2 cell differentiation ³⁶	12.27	ZAP70 CD3G CD3D
6	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.13	ZAP70 CD3G CD3D
7	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.07	ZAP70 CD3G CD3D
8	TCR signaling (REACTOME) ⁶⁵ Show member pathways TCR signaling ⁶⁵	12	ZAP70 CD3G CD3D
9	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.65	ZAP70 CD3G CD3D
10	NF-kB(NFkB) Pathway ⁶⁶	11.62	ZAP70 CD3G
11	S-1P Stimulated Signaling ⁶³	11.62	ZAP70 CD3G CD3D
12	Translocation of ZAP-70 to Immunological synapse ⁶⁵ Show member pathways Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	11.62	ZAP70 CD3G CD3D
13	Hematopoietic cell lineage ³⁶	11.61	CD3G CD3D
14	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.61	ZAP70 CD3G CD3D
15	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.58	ZAP70 CD3G CD3D
16	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.51	CD3G CD3D
17	C-MYB transcription factor network ¹	11.5	PTCRA ADA
18	CXCR4-mediated signaling events ¹	11.48	CD3G CD3D
19	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.37	CD3G CD3D
20	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.3	ZAP70 CD3G CD3D
21	CTLA4 Signaling ⁶³	11.18	ZAP70 CD3G CD3D
22	Nur77 Signaling in T-Cell ⁶³	11.08	CD3G CD3D
23	IL12 signaling mediated by STAT4 ¹	10.94	CD3G CD3D
24	G-protein signaling_Rap1A regulation pathway ²²	10.83	ZAP70 CD3G CD3D
25	Primary immunodeficiency ³⁶	10.38	ZAP70 CD3D ADA

Sources

GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.91	ZAP70 PTCRA DOCK2 CORO1A CD3G CD3D
2	external side of plasma membrane	GO:0009897	9.5	CD3G CD3D ADA
3	clathrin-coated vesicle membrane	GO:0030665	9.26	CD3G CD3D
4	immunological synapse	GO:0001772	9.16	ZAP70 CORO1A
5	T cell receptor complex	GO:0042101	9.13	ZAP70 CD3G CD3D
6	alpha-beta T cell receptor complex	GO:0042105	8.62	CD3G CD3D

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	adaptive immune response	GO:0002250	9.69	ZAP70 CD3G CD3D
2	T cell receptor signaling pathway	GO:0050852	9.63	ZAP70 CD3G CD3D
3	positive regulation of T cell activation	GO:0050870	9.49	CORO1A ADA
4	positive regulation of T cell differentiation	GO:0045582	9.48	ZAP70 ADA
5	positive regulation of calcium-mediated signaling	GO:0050850	9.43	ZAP70 ADA
6	immunological synapse formation	GO:0001771	9.4	DOCK2 CORO1A
7	negative thymic T cell selection	GO:0045060	9.37	ZAP70 DOCK2
8	T cell differentiation	GO:0030217	9.33	ZAP70 CD3G CD3D
9	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.32	ZAP70 ADA
10	negative regulation of thymocyte apoptotic process	GO:0070244	9.26	PTCRA ADA
11	T cell activation	GO:0042110	9.26	ZAP70 DOCK2 CD3G ADA
12	positive thymic T cell selection	GO:0045059	8.92	ZAP70 DOCK2 CD3G CD3D

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell receptor binding	GO:0042608	8.62	DOCK2 CD3G

Sources

Sources for Immunodeficiency 19

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Immunodeficiency 19 (IMD19)

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 19

Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 19:

Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Immunodeficiency 19:

MGI Mouse Phenotypes related to Immunodeficiency 19:

Drugs & Therapeutics for Immunodeficiency 19

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (1 elite genes):

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

Expression for Immunodeficiency 19

Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 19