Renal Agenesis malady

Wikipedia: Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail...⁴⁴ more...

MalaCards: Renal Agenesis, also known as renal adysplasia, is related to familial medullary thyroid carcinoma and polycystic kidney disease. An important gene associated with Renal Agenesis is SALL1 (sal-like 1 (Drosophila)), and among its related pathways are G-protein signaling_H-RAS regulation pathway and G-protein signaling H-RAS regulation pathway. The compounds desmopressin and enalapril have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid, and related mouse phenotypes are hearing/vestibular/ear and muscle.

OMIM: 191830

Aliases & Descriptions:

renal agenesis 6 30 33 8 32 renal adysplasia 6 33 43 urogenital adysplasia, hereditary 30 16 hereditary renal agenesis 30 43 bilateral renal agenesis 30 16 bra 30 16

hereditary urogenital adysplasia 6 hereditary renal aplasia 6 oligohydramnios sequence 43 urogenital adysplasia 43 renal aplasia 6 hra 30

Diseases related to renal agenesis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 265)

id	Related Disease	Score	Top Affiliating Genes
1	familial medullary thyroid carcinoma	29.3	GDNF, RET
2	polycystic kidney disease	28.8	GDNF, EPO, CFTR, PAX2
3	kallmann syndrome	28.6	PROKR2, PROK2, STS, TGM1, FGFR1, FGF8
4	x-linked ichthyosis	28.3	STS, TGM1
5	dyskeratosis congenita	27.9	DKC1, TERT, TERC
6	neurofibromatosis	27.9	GDNF, TERT, TERC, ETV5, RET
7	craniosynostosis	27.9	FGFR1, FGF8, FGF10, FREM1
8	dyskeratosis	27.7	TERC, TERT, DKC1
9	developmental disabilities	27.6	DHCR7, FGFR1, SALL1, PAX2, RET
10	thyroid cancer	27.4	GDNF, EPO, GFRA1, TERT, TERC, FGFR1
11	astrocytoma	26.0	GDNF, EPO, AGTR2, TERT, TERC, ESRRG
12	pancreatic cancer	25.9	GDNF, GFRA1, TERT, RET
13	adenocarcinoma	25.4	GDNF, EPO, STS, DKC1, GFRA1, AGTR2
14	adenoma	25.1	AGTR2, GFRA1, EPO, GDNF, TERT, TERC
15	neuronitis	23.6	AGTR2, GFRA1, TGM1, DHCR7, PROK2, PROKR2
16	esophagitis	23.4	EPO, SIX2, AGTR2, DACT1, TERT, TERC
17	thyroiditis	23.2	TERC, TERT, GFRA1, PROKR2, NPNT, SIX1
18	breast carcinoma	23.2	EPO, PRUNE, STS, TGM1, TERT, TERC
19	breast cancer	22.9	TERT, AGTR2, GFRA1, DKC1, STS, PRUNE
20	prostatitis	21.7	TERT, AGTR2, DKC1, STS, PROK2, PROKR2
21	carcinoma	21.3	TGM1, GFRA1, AGTR2, PDS5A, STS, PRUNE
22	intestinal obstruction	13.6	GDNF, CFTR, RET
23	urinary system disease	13.5	SIX1, NAGLU
24	charge syndrome	13.5	PAX2, CHD7, KAL1
25	multicystic renal dysplasia, bilateral	13.5	PRUNE, AGTR2, HOXD11, PAX2
26	branchiootic syndrome	13.5	EYA1, SIX1
27	branchiootorenal spectrum disorders	13.5	EYA1, SIX1
28	branchiootorenal syndrome	13.5	SIX1, EYA1, SALL1
29	lacrimal duct obstruction	13.4	SIX1, EYA1
30	torch syndrome	13.4	DKC1, TERC
31	congenital central hypoventilation syndrome	13.4	GDNF, GFRA1, RET
32	central hypoventilation syndrome	13.4	GDNF, GFRA1, RET
33	multiple endocrine neoplasia type 2a	13.4	RET, GFRA1, GDNF
34	kallmann syndrome 1	13.3	KAL1, FGFR1
35	hypospadias	13.2	SALL1, FGF10, FGF8, PRUNE
36	branchiooculofacial syndrome	13.2	EYA1, SALL1
37	cerebellar hypoplasia	13.2	GDNF, FGF10, KAL1, CHD7, PAX2
38	goldenhar syndrome	13.2	ESRRG, EYA1, SALL1
39	townes-brocks syndrome	13.2	EYA1, SALL1
40	esophageal atresia	13.1	SIX2, FGF10, CHD7
41	gonadotropin deficiency	13.1	KAL1, FGFR1, PROK2, PROKR2
42	pulmonary fibrosis, familial	13.1	TERT, TERC
43	idiopathic pulmonary fibrosis	13.1	TERT, TERC
44	dyskeratosis congenita autosomal dominant	13.1	DKC1, TERT, TERC
45	renal hypoplasia	13.0	FMN1, PAX2
46	infectious mononucleosis	13.0	FGFR1, FGF8, FGF10
47	proteinuria	13.0	EPO, AGTR2, KAL1, CFTR, PAX2, NAGLU
48	pituitary tumor	13.0	GDNF, GFRA1, AGTR2, TERC, RET
49	mental retardation syndrome	13.0	NAGLU, AGTR2, DHCR7, STS, GDNF
50	hydronephrosis	12.9	EPO, PRUNE, AGTR2, TBX18, UPK3A, NAGLU

Clinical features from OMIM: 191830

Approved drugs:

Drug clinical trials:

Genetic tests related to renal agenesis:

id	Genetic test	Affiliating Genes
1	Renal Agenesis clinical/research

MalaCards organs/tissues related to renal agenesis:

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MGI Mouse Phenotypes related to renal agenesis:

²⁵ (show all 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.3	SIX1, EYA1, FGFR1, FGF8, FGF10, FREM2
2	muscle phenotype	MP:0005369	7.8	GDNF, SIX1, DHCR7, GFRA1, AGTR2, TERC
3	respiratory system phenotype	MP:0005388	7.8	ETV5, TERC, PDS5A, DKC1, DHCR7, SIX1
4	endocrine/exocrine gland phenotype	MP:0005379	7.6	TERC, TERT, AGTR2, PROKR2, SIX1, GDNF
5	craniofacial phenotype	MP:0005382	7.4	GLCE, ETV5, TBX18, PDS5A, DHCR7, SIX1
6	behavior/neurological phenotype	MP:0005386	7.2	AGTR2, GFRA1, TGM1, DHCR7, PROKR2, GDNF
7	vision/eye phenotype	MP:0005391	7.1	FGFR1, GRIP1, EYA1, GLCE, TERC, PDS5A
8	limbs/digits/tail phenotype	MP:0005371	7.0	SIX1, DHCR7, DACT1, TERC, HOXD11, ETV5
9	digestive/alimentary phenotype	MP:0005381	7.0	TERT, DACT1, PDS5A, AGTR2, GFRA1, DHCR7
10	reproductive system phenotype	MP:0005389	7.0	TERC, TERT, DACT1, PDS5A, DKC1, PROKR2
11	skeleton phenotype	MP:0005390	6.7	HOXD11, TERC, TERT, TBX18, DACT1, PDS5A
12	homeostasis/metabolism phenotype	MP:0005376	6.5	TERC, TERT, AGTR2, TGM1, DKC1, DHCR7
13	integument phenotype	MP:0010771	6.4	AGTR2, GFRA1, TGM1, DKC1, PROKR2, EPO
14	embryogenesis phenotype	MP:0005380	6.2	HOXD11, TERC, TBX18, DACT1, PDS5A, GFRA1
15	growth/size phenotype	MP:0005378	5.8	TERT, TBX18, DACT1, PDS5A, AGTR2, TGM1
16	nervous system phenotype	MP:0003631	5.8	PDS5A, DACT1, TBX18, TERT, TERC, AGTR2
17	normal phenotype	MP:0002873	5.7	EYA1, TERT, GFRA1, DKC1, SIX2, EPO
18	cardiovascular system phenotype	MP:0005385	5.6	ESRRG, TERC, TBX18, DACT1, PDS5A, AGTR2
19	mortality/aging	MP:0010768	5.2	RET, ESRRG, HOXD11, ETV5, GLCE, EYA1
20	renal/urinary system phenotype	MP:0005367	5.2	SIX2, SIX1, NPNT, DHCR7, DKC1, GFRA1
21	cellular phenotype	MP:0005384	4.8	HOXD11, ESRRG, TERC, TERT, AGTR2, GFRA1

Articles related to renal agenesis:

id	Title	Authors	Year	Affiliating Genes
1	RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. (21490379)	Jeanpierre C.... Salomon R.	2011	RET, GDNF
2	An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)	Balci S.... Vulliamy T.	2009	TERT, DKC1, TERC
3	FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (19732862)	Alazami A.M.... Alkuraya F.S.	2009	FREM1
4	Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. (17468528)	Krishnamurthy S.... Yadav S.	2007	STS, TGM1
5	Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. (12833423)	Nowaczyk M.J.... Sirkin W.L.	2003	DHCR7
6	Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. (12766770)	Vrontou S.... Chalepakis G.	2003	FRAS1
7	Unilateral renal agenesis in a family with medullary thyroid carcinoma. (10777380)	Lore F.... Talidis F.	2000	RET
8	X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)	Colquhoun-Kerr J.S.... Bode H.H.	1999	KAL1
9	Erythropoietin concentrations and erythropoiesis in newborns suffering from renal agenesis and congenital kidney diseases. (8929725)	Fahnenstich H.... Dame C.	1996	EPO
10	N-acetyl-beta-D-glucosaminidase excretion in patients with unilateral renal agenesis or nephrectomy in childhood. (8993178)	Tekin N.... Uslu S.	1996	NAGLU

Genes related to renal agenesis according to GeneCards:

(show all 44)

id	Symbol	Description	Score	GeneCards Section Context
1	SALL1	sal-like 1 (Drosophila)	11.0
2	KAL1	Kallmann syndrome 1 sequence	11.0	Publications
3	AGTR2	angiotensin II receptor, type 2	11.0
4	PAX2	paired box 2	11.0
5	GDNF	glial cell derived neurotrophic factor	11.0	Publications
6	RET	ret proto-oncogene	11.0	Publications
7	GRIP1	glutamate receptor interacting protein 1	11.0
8	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	11.0
9	UPK3A	uroplakin 3A	11.0
10	HOXD11	homeobox D11	11.0
11	SIX2	SIX homeobox 2	11.0
12	PROK2	prokineticin 2	11.0
13	PROKR2	prokineticin receptor 2	11.0
14	DACT1	dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)	11.0
15	SIX1	SIX homeobox 1	11.0
16	TBX18	T-box 18	11.0	Disorders
17	WNT11	wingless-type MMTV integration site family, member 11	11.0
18	TGM1	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	11.0	Publications
19	PRUNE	prune homolog (Drosophila)	11.0
20	DKC1	dyskeratosis congenita 1, dyskerin	11.0	Publications
21	FGF8	fibroblast growth factor 8 (androgen-induced)	11.0
22	DHCR7	7-dehydrocholesterol reductase	11.0	Publications
23	NPNT	nephronectin	11.0
24	ETV5	ets variant 5	11.0
25	GLCE	glucuronic acid epimerase	11.0
26	TERC	telomerase RNA component	11.0	Publications
27	NAGLU	N-acetylglucosaminidase, alpha	11.0	Publications
28	STS	steroid sulfatase (microsomal), isozyme S	11.0	Publications
29	FREM2	FRAS1 related extracellular matrix protein 2	11.0
30	CHD7	chromodomain helicase DNA binding protein 7	11.0
31	FREM1	FRAS1 related extracellular matrix 1	11.0	Publications
32	FREM3	FRAS1 related extracellular matrix 3	11.0
33	FGF10	fibroblast growth factor 10	11.0
34	EYA1	eyes absent homolog 1 (Drosophila)	11.0
35	PDS5A	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	11.0
36	FRAS1	Fraser syndrome 1	11.0	Publications
37	GFRA1	GDNF family receptor alpha 1	11.0
38	TERT	telomerase reverse transcriptase	11.0	Publications
39	EXOC6B	exocyst complex component 6B	11.0	Disorders
40	FMN1	formin 1	11.0
41	FGFR1	fibroblast growth factor receptor 1	11.0
42	PARVB	parvin, beta	11.0
43	EPO	erythropoietin	11.0	Publications
44	ESRRG	estrogen-related receptor gamma	11.0

Pathways related to renal agenesis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	G-protein signaling_H-RAS regulation pathway41	10.0	GFRA1, GDNF
2	G-protein signaling H-RAS regulation pathway10	9.6	RET, GFRA1, GDNF
3	Development FGF-family signaling10	9.4	FGFR1, FGF8, FGF10
4	Telomerase Components in Cell Signaling36	9.0	FGF10, FGF8, FGFR1, TERT, DKC1

Compounds related to renal agenesis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	desmopressin32 42 9 9	12.3	NAGLU, CFTR, EPO
2	enalapril32 9 9	11.3	EPO, AGTR2, NAGLU
3	dopamine32 9 18 9	12.0	GDNF, GFRA1, FGFR1, FGF8, CFTR, NAGLU
4	heparin32 9 18 9	11.8	GDNF, GFRA1, GLCE, FGFR1, FGF8, FGF10
5	heparan sulfate32 18	9.7	RET, GDNF, GFRA1, GLCE, FGFR1, FGF8
6	steroid32	8.5	STS, DHCR7, TGM1, ESRRG, GRIP1, FGFR1
7	retinoic acid32 42 18	10.4	GDNF, STS, TGM1, TERT, TERC, FGFR1
8	testosterone32 9 18 9	11.0	EPO, STS, TERT, FGFR1, FGF8, FGF10
9	calcium32 9 18 9	10.1	GDNF, WNT11, PROKR2, STS, TGM1, AGTR2
10	tyrosine32	6.9	AGTR2, GFRA1, STS, WNT11, EPO, GDNF

Biological processes related to renal agenesis according to GeneDecks:

(show all 31)

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of metanephros size	GO:035566	10.6	AGTR2, PAX2
2	positive regulation of metanephric glomerulus development	GO:072300	10.6	AGTR2, PAX2, RET
3	mesenchymal to epithelial transition involved in metanephros morphogenesis	GO:003337	10.5	GDNF, SIX2, SALL1, PAX2
4	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	GO:072108	10.5	GDNF, PAX2
5	positive regulation of mesenchymal cell proliferation involved in ureter development	GO:2000729	10.4	SIX1, TBX18
6	positive regulation of branching involved in ureteric bud morphogenesis	GO:090190	10.4	PAX2, AGTR2, SIX1, GDNF
7	positive regulation of ureteric bud formation	GO:072107	10.4	GDNF, SIX1
8	ureter maturation	GO:035799	10.4	PAX2, RET
9	mesodermal cell fate specification	GO:007501	10.3	SIX2, PAX2
10	mesonephros development	GO:001823	10.3	PAX2, FGF10, FGF8
11	kidney development	GO:001822	10.3	SIX2, SIX1, SALL1, UPK3A
12	positive regulation of secondary heart field cardioblast proliferation	GO:072513	10.3	SIX1, EYA1
13	aorta morphogenesis	GO:035909	10.2	SIX1, EYA1, FGF8
14	pharyngeal system development	GO:060037	10.2	FGF8, EYA1, SIX1
15	cochlea morphogenesis	GO:090103	10.2	PAX2, EYA1, TBX18, SIX1
16	thyroid gland development	GO:030878	10.2	FGF10, FGF8, SIX1
17	positive regulation of epithelial cell proliferation	GO:050679	10.0	TBX18, EYA1, FGF10, PAX2
18	metanephros development	GO:001656	9.9	GDNF, HOXD11, EYA1, FGF8, FGF10
19	outer ear morphogenesis	GO:042473	9.9	SALL1, FGFR1, EYA1
20	blood vessel remodeling	GO:001974	9.9	AGTR2, FGF8, FGF10
21	ureteric bud development	GO:001657	9.8	SIX1, NPNT, FGFR1, SALL1, RET
22	inner ear morphogenesis	GO:042472	9.8	SIX1, FGFR1, CHD7, PAX2
23	middle ear morphogenesis	GO:042474	9.8	SIX2, SIX1, EYA1, FGFR1
24	branching involved in ureteric bud morphogenesis	GO:001658	9.7	PAX2, GDNF, SIX1, NPNT, HOXD11, EYA1
25	cell communication	GO:007154	9.7	FREM2, FREM1, FREM3, FRAS1
26	organ induction	GO:001759	9.6	GDNF, SIX1, HOXD11, FGFR1, FGF8, FGF10
27	sensory perception of sound	GO:007605	9.4	FGFR1, EYA1, TBX18, SIX1
28	regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	GO:060665	9.4	FGF10, FGFR1
29	anti-apoptosis	GO:006916	9.0	GDNF, EPO, PROK2, TERT, PAX2
30	negative regulation of apoptotic process	GO:043066	8.6	EPO, WNT11, EYA1, FGFR1, FGF10, PAX2
31	positive regulation of transcription, DNA-dependent	GO:045893	8.3	EPO, WNT11, SIX1, AGTR2, ESRRG, ETV5

Molecular functions related to renal agenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	type 2 fibroblast growth factor receptor binding	GO:005111	10.0	FGF10, FGF8
2	telomerase activity	GO:003720	9.6	TERT, DKC1