Interleukin-7 Receptor Alpha Deficiency malady

Disease Ontology: A severe combined immunodeficiency that results from defective il7r expression causes t-b+nk+ scid. loss of il-7r function leads to the loss of an antiapoptotic signal, resulting in a loss of t-cell selection in thymus.⁶

MalaCards: Interleukin-7 Receptor Alpha Deficiency, also known as malnutrition, is related to combined immunodeficiency and severe combined immunodeficiency. An important gene associated with Interleukin-7 Receptor Alpha Deficiency is IL9R (interleukin 9 receptor), and among its related pathways are IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types and IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compounds il 10 and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include thymus, nk cells and t cells, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

interleukin-7 receptor alpha deficiency 6 8 malnutrition 43

il-7r 6

Disease types for interleukin receptor family:

interleukin-7 receptor alpha deficiency

Diseases related to interleukin-7 receptor alpha deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 705)

id	Related Disease	Score	Top Affiliating Genes
1	combined immunodeficiency	32.4	IL9R, IL7, IL4R
2	severe combined immunodeficiency	32.4	IL4R, IL7, IL9R
3	celiac disease	32.3	CLEC16A, IL6R
4	crohn's disease	31.9	CLEC16A, IL4R, IL6R, IL7
5	interleukin receptor	31.7	IL4R, IL6R
6	inflammatory bowel disease	31.3	CSF2RA, IL7, IL6R, IL4R, KIT
7	arthritis	31.1	IL9R, IL7, IL6R, IL4R, BCL2L11, CLEC16A
8	cblc	31.0	CSF2RA, IL9R, IL6R, IL4R, KIT
9	multiple sclerosis	30.9	EBF1, IL7, IL6R, IL4R, CLEC16A
10	rheumatoid arthritis	30.9	IL9R, IL7, IL6R, IL4R, BCL2L11, CLEC16A
11	acute lymphoblastic leukemia	30.9	IL7, IL6R, IL4R, KIT
12	atopic dermatitis	30.4	CSF2RA, IL9R, IL7, IL4R
13	dermatitis	30.2	CSF2RA, IL9R, IL7, IL4R
14	asthma	30.2	STAT5A, IL9R, IL7, IL6R, IL4R, KIT
15	adult t-cell leukemia	29.9	STAT5A, IL7, IL4R
16	myeloma	29.9	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
17	bronchiolitis	29.6	STAT5A, IL9R, IL7, IL6R, IL4R, KIT
18	fibrosis	29.6	IL9R, IL7, IL6R, IL4R, KIT
19	non-hodgkin lymphoma	29.5	IL7, IL6R, IL4R
20	b-cell lymphomas	29.5	EBF1, IL9R, IL7, IL6R, IL4R, BCL2L11
21	kaposi's sarcoma	29.3	KIT, IL4R, IL6R, IL7
22	hodgkin's lymphoma	29.3	EBF1, STAT5A, IL9R, IL7, IL4R, BCL2L11
23	multiple myeloma	29.3	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
24	t-cell leukemia	29.0	STAT5A, IL9R, IL7, IL6R, IL4R, BCL2L11
25	pituitary adenoma	28.8	STAT5A, IL6R, IL4R, KIT
26	leukemia	28.8	EBF1, CSF2RA, STAT5A, IL9R, IL7, IL6R
27	burkitt's lymphoma	28.7	BCL2L11, IL4R, IL6R, IL7
28	castleman's disease	28.5	IL7, IL6R
29	adenoma	28.4	STAT5A, IL6R, IL4R, BCL2L11, KIT
30	essential thrombocythemia	28.4	KIT, STAT5A
31	renal cell carcinoma	28.2	KIT, BCL2L11, IL4R, IL6R, IL7
32	lymphoblastic leukemia	28.1	EBF1, STAT5A, IL9R, IL7, IL6R, IL4R
33	gamma chain deficiency	28.1	IL7, IL4R
34	chronic myeloid leukemia	27.9	KIT, STAT5A, CSF2RA
35	gastric cancer	27.9	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
36	acquired immunodeficiency syndrome	27.9	IL4R, IL6R, IL7
37	glioblastoma	27.6	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
38	myeloid leukemia	27.6	CSF2RA, STAT5A, IL6R, BCL2L11, KIT
39	lymphocytic leukemia	27.4	STAT5A, IL7, IL4R, BCL2L11, KIT
40	cervicitis	27.2	KIT, IL4R, IL6R, IL7, STAT5A
41	esophageal carcinoma	27.2	KIT, IL6R, STAT5A
42	megakaryoblastic leukemia	27.0	STAT5A, IL6R, KIT
43	thyroid carcinoma	26.9	STAT5A, IL7, IL6R, IL4R
44	adenocarcinoma	26.7	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
45	myelofibrosis	26.4	STAT5A, KIT
46	ovarian carcinoma	26.2	STAT5A, IL7, IL6R, IL4R, KIT
47	melanoma	25.8	CSF2RA, STAT5A, IL7, IL6R, IL4R, BCL2L11
48	colon carcinoma	25.7	CSF2RA, IL7, IL6R, IL4R, BCL2L11, KIT
49	hematopoiesis	25.7	CSF2RA, STAT5A, IL7, IL6R, KIT
50	breast cancer	25.3	STAT5A, IL7, IL6R, IL4R, BCL2L11, CLEC16A

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to interleukin-7 receptor alpha deficiency:

²²

MGI Mouse Phenotypes related to interleukin-7 receptor alpha deficiency:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	8.6	KIT, STAT5A, EBF1
2	endocrine/exocrine gland phenotype	MP:0005379	7.9	KIT, BCL2L11, IL4R, IL6R, STAT5A
3	integument phenotype	MP:0010771	7.5	EBF1, STAT5A, IL4R, BCL2L11, KIT
4	hematopoietic system phenotype	MP:0005397	7.3	EBF1, STAT5A, IL7, IL4R, BCL2L11, KIT
5	immune system phenotype	MP:0005387	7.1	KIT, EBF1, STAT5A, IL7, IL6R, IL4R

Genes related to interleukin-7 receptor alpha deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	IL9R	interleukin 9 receptor	11.1
2	CSF2RA	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	11.1
3	BCL2L11	BCL2-like 11 (apoptosis facilitator)	11.1
4	IL7	interleukin 7	11.1
5	IL6R	interleukin 6 receptor	11.1
6	IL4R	interleukin 4 receptor	11.1
7	EBF1	early B-cell factor 1	11.1
8	CLEC16A	C-type lectin domain family 16, member A	11.1
9	STAT5A	signal transducer and activator of transcription 5A	11.1
10	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	11.1

Pathways related to interleukin-7 receptor alpha deficiency according to GeneDecks:

(show all 22)

id	Pathway	Score	Top Affiliating Genes
1	IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.8	IL4R, IL9R
2	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.6	IL4R, IL6R
3	IL-9 Signaling Pathways37	9.6	IL9R, STAT5A
4	Selected targets of C/EBPalpha10	9.5	EBF1, CSF2RA
5	IL-9 Pathway36	9.4	IL9R, STAT5A
6	IL-4 Signaling Pathways37	9.3	IL4R, STAT5A
7	JNK Pathway36	9.3	IL6R, IL4R, KIT
8	PGC1Alpha Pathway36	9.2	IL4R, IL6R, IL7, IL9R
9	TGF-Beta Pathway36	9.2	IL9R, IL7, IL6R, IL4R
10	MAPK Family Pathway36	9.0	IL9R, IL7, IL6R, IL4R
11	IL-7 Signaling Pathways37	9.0	IL7, STAT5A
12	STAT3 Pathway36	8.9	CSF2RA, IL9R, IL7, IL6R, IL4R
13	Hematopoietic cell lineage20	8.4	KIT, IL4R, IL6R, IL7, IL9R, CSF2RA
14	Cytokine-cytokine receptor interaction20	8.4	CSF2RA, IL9R, IL7, IL6R, IL4R, KIT
15	Glucocorticoid Receptor Signaling36	8.4	STAT5A, IL9R, IL7, IL6R, IL4R
16	Antioxidant Action of Vitamin-C36	8.4	CSF2RA, IL9R, IL7, IL6R, IL4R, KIT
17	p38 Signaling36	8.4	CSF2RA, IL9R, IL7, IL6R, IL4R, KIT
18	Akt Signaling36	8.4	CSF2RA, IL9R, IL7, IL6R, IL4R, KIT
19	Jak-STAT signaling pathway20	8.1	CSF2RA, STAT5A, IL9R, IL7, IL6R, IL4R
20	Tec Kinases Signaling36	8.1	CSF2RA, STAT5A, IL9R, IL7, IL6R, IL4R
21	Molecular Mechanisms of Cancer36	8.1	CSF2RA, IL9R, IL7, IL6R, IL4R, BCL2L11
22	JAK-STAT Pathway36	7.9	STAT5A, IL9R, IL7, IL6R, IL4R, KIT

Compounds related to interleukin-7 receptor alpha deficiency according to GeneDecks:

(show all 23)

id	Compound	Score	Top Affiliating Genes
1	il 1032	9.6	IL4R, IL6R, IL7
2	pkc 41232	9.3	KIT, STAT5A
3	ag-129632	9.3	STAT5A, KIT
4	su541632	9.3	KIT, STAT5A
5	rantes32	9.2	IL4R, IL6R, IL7
6	progesterone32 42 9 18 9	13.0	STAT5A, KIT
7	histamine32 18	10.0	KIT, IL4R, IL6R, IL7
8	imatinib32 34 9 9	11.9	STAT5A, BCL2L11, KIT
9	dasatinib32 34 9 9	11.8	KIT, STAT5A
10	ionomycin32	8.8	IL4R, IL7, STAT5A
11	rapamycin32 42	9.7	STAT5A, IL7, BCL2L11, KIT
12	cyclosporin a32 42	9.7	STAT5A, IL7, IL6R, IL4R
13	phosphotyrosine32	8.6	STAT5A, IL7, IL4R, KIT
14	dexamethasone32 42 34 9 9	12.3	STAT5A, IL7, IL6R, IL4R, BCL2L11
15	gp 13032	8.3	KIT, IL4R, IL6R, STAT5A, CSF2RA
16	oligonucleotide32	8.3	KIT, BCL2L11, IL6R, IL7, STAT5A
17	thymidine32 18	9.2	STAT5A, IL7, IL6R, IL4R, KIT
18	steroid32	8.2	STAT5A, IL7, IL6R, IL4R, KIT
19	glucose32	8.1	KIT, IL6R, IL7, STAT5A, CSF2RA
20	cycloheximide32	7.9	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
21	phosphatidylinositol32	7.9	STAT5A, IL7, IL6R, IL4R, BCL2L11, KIT
22	serine32	7.9	CSF2RA, STAT5A, IL7, IL4R, BCL2L11, KIT
23	tyrosine32	7.6	CSF2RA, STAT5A, IL7, IL6R, IL4R, BCL2L11

Biological processes related to interleukin-7 receptor alpha deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of developmental pigmentation	GO:048070	9.6	KIT, BCL2L11
2	positive regulation of tyrosine phosphorylation of Stat3 protein	GO:042517	9.2	KIT, IL6R
3	T cell homeostasis	GO:043029	9.2	BCL2L11, STAT5A
4	cytokine-mediated signaling pathway	GO:019221	8.7	KIT, IL6R, STAT5A