BRA
MCID: RNL002
MIFTS: 70

Renal Agenesis (BRA) malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories

Summaries for Renal Agenesis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...

MalaCards: Renal Agenesis, also known as renal adysplasia, is related to hydronephrosis and renal dysplasia, and has symptoms including sirenomelia/mermaid/lower limb fusion, short columella/depressed nasal tip and sacro-coccyx/sacrum anomaly. An important gene associated with Renal Agenesis is RET (ret proto-oncogene), and among its related pathways are Signaling events regulated by Ret tyrosine kinase and G protein signaling H RAS regulation pathway. The compounds enalapril and aminoglycosides have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and growth/size/body.

Description from OMIM:48 191830,615721

Aliases & Classifications for Renal Agenesis

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
bilateral renal agenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

renal agenesis 9 44 48 11 46
renal adysplasia 9 10 23 63
urogenital adysplasia, hereditary 44 21
hereditary renal agenesis 44 63
bilateral renal agenesis 44 50
hereditary urogenital adysplasia 9
hereditary renal aplasia 9
oligohydramnios sequence 63
renal aplasia 9
hra 44
bra 44


External Ids:

Disease Ontology9 DOID:14766
MESH via Orphanet37 C536482
ICD10 via Orphanet27 Q60.1

Related Diseases for Renal Agenesis

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18GeneCards, 19GeneDecks
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Diseases related to Renal Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1hydronephrosis30.4AGTR2, NAGLU
2renal dysplasia30.3GDNF, PAX2, SALL1, RET
3kallmann syndrome30.3KAL1, STS
4cryptorchidism30.3STS, KAL1
5polycystic kidney disease30.3GDNF, PAX2
6proteinuria30.3NAGLU, PAX2, AGTR2
7primary hyperoxaluria30.3NAGLU, PAX2, AGTR2
8renal hypodysplasia/aplasia 130.3ITGA8
9hypoparathyroidism30.2RET, NAGLU
10vesicoureteral reflux30.0NAGLU, PAX2, UPK3A, AGTR2
11x-linked ichthyosis30.0STS, TGM1
12hirschsprung's disease30.0GDNF, RET
13multicystic dysplastic kidney30.0PAX2, AGTR2
14neurofibromatosis30.0RET, GDNF
15pheochromocytoma29.9AGTR2, RET, GDNF
16hypogonadism29.9KAL1, STS
17mental retardation29.9AGTR2, STS, NAGLU, GDNF
18unilateral renal agenesis11.0
19costello syndrome10.8
20vaginitis10.5
21blindness10.5
22sarcoma10.5
23potter's syndrome10.4
24aniridia renal agenesis psychomotor retardation10.4
25thyroid cancer10.4
26jejunal atresia with renal adysplasia10.4
27cervicitis10.4
28oral squamous cell carcinoma10.3
29oligohydramnios10.3
30renal adysplasia dominant type10.3
31upk3a-related renal adysplasia10.3
32ret-related renal adysplasia10.3
33kidney disease10.3
34double uterus-hemivagina-renal agenesis10.3
35fraser syndrome10.3
36spitz nevus10.3
37urethritis10.2
38infertility10.2
39hypertension10.2
40prostatitis10.2
41aniridia ataxia renal agenesis psychomotor retardation10.2
42sirenomelia10.2
43renal hypoplasia10.2
44leopard syndrome10.2
45congenital myopathy with excess of muscle spindles10.2
46adenocarcinoma10.2
47bilateral renal agenesis dominant type10.2
48cryptophthalmos10.2
49bilateral renal hypoplasia10.2
50phacomatosis pigmentokeratotica10.2

Graphical network of the top 20 diseases related to Renal Agenesis:



Diseases related to renal agenesis

Symptoms for Renal Agenesis

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48OMIM, 50Orphanet
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Clinical features from OMIM:

191830,615721

Symptoms:

50 (show all 18)
  • sirenomelia/mermaid/lower limb fusion
  • short columella/depressed nasal tip
  • sacro-coccyx/sacrum anomaly
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • epicanthic folds
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • stillbirth/neonatal death
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • agenesis/hypoplasia/aplasia of kidneys
  • uterine/uterus/fallopian tubes anomalies
  • intestinal/colonic anomaly
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • oligoamnios
  • hypertelorism

Drugs & Therapeutics for Renal Agenesis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Renal Agenesis

Drug clinical trials:

Search ClinicalTrials for Renal Agenesis

Search NIH Clinical Center for Renal Agenesis

Search CenterWatch for Renal Agenesis

Genetic Tests for Renal Agenesis

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21GeneTests, 23GTR
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Genetic tests related to Renal Agenesis:

id Genetic test Affiliating Genes
1 Urogenital Adysplasia, Hereditary21
2 Renal Adysplasia23

Anatomical Context for Renal Agenesis

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34MalaCards
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MalaCards organs/tissues related to Renal Agenesis:

34
Uterus, Kidney, Lung, Colon, Testis, Prostate, Thyroid, Brain, Ovary, Skin, Liver, Cerebellum, Heart, Adrenal gland

Animal Models for Renal Agenesis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Renal Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5NAGLU, PAX2, SALL1, ITGA8, FGF20
2MP:00053787.9AGTR2, RET, SALL1, NAGLU, TGM1, GDNF
3MP:00053867.7GDNF, TGM1, NAGLU, SALL1, RET, ITGA8
4MP:00053857.5GDNF, NAGLU, PAX2, SALL1, RET, AGTR2
5MP:00053847.4GDNF, NAGLU, PAX2, SALL1, RET, ITGA8
6MP:00036317.4GDNF, NAGLU, PAX2, SALL1, RET, ITGA8
7MP:00053677.3AGTR2, GDNF, NAGLU, PAX2, SALL1, RET
8MP:00107687.1GDNF, TGM1, NAGLU, PAX2, SALL1, RET

Publications for Renal Agenesis

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53PubMed
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Articles related to Renal Agenesis:

(show top 50)    (show all 498)
idTitleAuthorsYear
1
Scimitar syndrome with renal agenesis. (22536564)
2012
2
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
3
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. (21900877)
2012
4
Giant seminal vesicle cyst causing ipsilateral hydronephrosis with contralateral renal agenesis. (21762968)
2012
5
Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association? (20966746)
2011
6
Maternal diabetes and renal agenesis/dysgenesis. (20706994)
2010
7
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (19732862)
2009
8
Vaginal clear cell adenocarcinoma with associated MA1llerian duct anomalies, renal agenesis and situs inversus: report of a case with no known in-utero exposure with diethyl stilboestrol. (19757709)
2009
9
Bilateral eventration of the diaphragm with malrotation and unilateral renal agenesis. (17526967)
2007
10
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. (17551328)
2007
11
Genetic approaches to human renal agenesis/hypoplasia and dysplasia. (17437132)
2007
12
Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. (16977473)
2007
13
Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. (17503029)
2007
14
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. (16719279)
2006
15
False diagnosis of renal agenesis on fetal MRI. (15543544)
2005
16
Neurocutaneous melanosis with transposition of the great arteries and renal agenesis. (12869156)
2003
17
Congenital renal agenesis: a review. (17657105)
2003
18
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and contralateral crossed ectopia. (12137846)
2002
19
Unilateral renal agenesis associated with additional congenital abnormalities of the urinary tract in a Pekingese bitch. (11837226)
2002
20
Seminal vesicle cyst with ipsilateral renal agenesis. (10882270)
2000
21
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
22
Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome? (9823496)
1998
23
Uterus didelphis with obstructed hemivagina and ipsilateral renal agenesis: ultrasound and magnetic resonance imaging diagnosis. (9127139)
1997
24
Unilateral intermittent occlusion of a bicornuate uterus in association with ipsilateral renal agenesis and vena cava inferior duplication. (9198522)
1997
25
Congenital ectopic vas deferens inserting into the bladder with ipsilateral renal agenesis. (9061432)
1996
26
Renal agenesis and the absence of enteric neurons in mice lacking GDNF. (8657306)
1996
27
Unilateral renal agenesis. (8540439)
1995
28
Hernia uteri (correction of: uterus) inguinale associated with unilateral renal agenesis. (7575304)
1995
29
Incidence of vesicoureteral reflux in children with unilateral renal agenesis. (7869521)
1995
30
Seminal vesicle cyst with ipsilateral renal agenesis. (8434428)
1993
31
Unilateral renal agenesis in chick embryos: a model for chronic renal insufficiency. (1445790)
1992
32
Uterus didelphys with an obstructed hemivagina and ipsilateral renal agenesis: a rare cause of acute abdomen in pubertal girls. (1779329)
1991
33
Prenatal sonographic diagnosis of unilateral fetal renal agenesis. (2172312)
1990
34
Size of the fetal adrenal in bilateral renal agenesis. (2196498)
1990
35
Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. (2669483)
1989
36
Unilateral renal agenesis with or without ipsilateral adrenal agenesis. (3050154)
1988
37
Proteinuria, hypertension and renal failure in a patient with unilateral renal agenesis. (3631153)
1987
38
Recurrent bilateral renal agenesis. (3777051)
1986
39
Kallmann's syndrome with unilateral renal agenesis. A case report. (2877504)
1986
40
Proteinuria and chronic renal failure associated with unilateral renal agenesis. (4077487)
1985
41
Two siblings with unilateral renal agenesis. (6500657)
1984
42
Birth frequency of bilateral renal agenesis. (7241537)
1981
43
Adrenal sonography in renal agenesis and dysplasia. (6766636)
1980
44
Congenital uterine anomaly with renal agenesis. (96151)
1978
45
Three cases of cystic seminal vesicle associated with unilateral renal agenesis. (4748400)
1973
46
Unilateral renal agenesis with hypoplastic ureter: observations on the contralateral urinary tract and report of 4 cases. (5033999)
1972
47
Renal agenesis and pulmonary hypoplasia. (4650851)
1972
48
Female hypospadias associated with unilateral renal agenesis and genital malformations. A case report. (5566106)
1971
49
An XXsex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies. (5928014)
1966
50
BILATERAL AND UNILATERAL RENAL AGENESIS. (17857321)
1939

Variations for Renal Agenesis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Renal Agenesis:

65
id Symbol AA change Variation ID SNP ID
1RETp.Met918ThrVAR_006342rs74799832
2RETp.Pro198ThrVAR_044392rs76736111
3RETp.Val376AlaVAR_044393
4RETp.Asn394HisVAR_044394
5RETp.Val778IleVAR_044395rs75686697
6RETp.Gly894SerVAR_044396
7RETp.Pro1049LeuVAR_044397
8RETp.Pro1067SerVAR_044398
9UPK3Ap.Gly202AspVAR_044400
10UPK3Ap.Pro273LeuVAR_044401rs121918186

Clinvar genetic disease variations for Renal Agenesis:

1
id Gene Name Type Significance SNP ID Assembly Location
1ITGA8ITGA8: c.2982+2T> Csingle nucleotide variantPathogenicGRCh37Chr 10, 15573047: 15573047
2ITGA8NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs)deletionPathogenicGRCh37Chr 10, 15649814: 15649818
3ITGA8NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg)single nucleotide variantPathogenicGRCh37Chr 10, 15686209: 15686209

Expression for genes affiliated with Renal Agenesis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Agenesis

Search GEO for disease gene expression data for Renal Agenesis.

Pathways for genes affiliated with Renal Agenesis

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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Renal Agenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7RET, GDNF
29.7RET, GDNF

Compounds for genes affiliated with Renal Agenesis

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1enalapril46 52 1211.7AGTR2, NAGLU
2aminoglycosides469.6GDNF, NAGLU
3cholesterol-sulfate46 1210.6TGM1, STS
4catecholamine469.6AGTR2, RET, GDNF
5vitamin a46 25 1211.5RET, NAGLU, TGM1
6arginine469.3TGM1, SALL1, RET, AGTR2
7sorafenib46 52 1211.1STS, RET
8heparan sulfate46 259.9RET, NAGLU, KAL1, GDNF
9alanine468.8AGTR2, RET, NAGLU, GDNF
10nitric oxide46 25 1210.7GDNF, TGM1, NAGLU, AGTR2
11steroid468.4KAL1, TGM1, NAGLU, STS
12retinoic acid46 259.4GDNF, TGM1, RET, STS
13zinc46 259.3STS, SALL1, NAGLU, GDNF
14cysteine468.2STS, RET, NAGLU, GDNF
15lipid468.1STS, RET, NAGLU, TGM1, GDNF
16oxygen46 259.1AGTR2, STS, NAGLU, GDNF
17tyrosine468.0GDNF, PAX2, RET, STS, AGTR2
18calcium46 52 25 1210.7GDNF, TGM1, NAGLU, RET, STS, AGTR2

GO Terms for genes affiliated with Renal Agenesis

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17Gene Ontology
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Cellular components related to Renal Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.5STS, PAX2, NAGLU

Biological processes related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1ureter maturationGO:0357999.9PAX2, RET
2ureteric bud developmentGO:0016579.9SALL1, RET
3enteric nervous system developmentGO:0484849.8RET, GDNF
4regulation of metanephros sizeGO:0355669.8PAX2, AGTR2
5metanephros developmentGO:0016569.8ITGA8, GDNF
6neural crest cell migrationGO:0017559.8RET, GDNF
7positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:0721089.7GDNF, PAX2
8neural tube closureGO:0018439.6SALL1, PAX2
9cellular response to retinoic acidGO:0713009.6RET, PAX2
10positive regulation of metanephric glomerulus developmentGO:0723009.6AGTR2, RET, PAX2
11mesenchymal to epithelial transition involved in metanephros morphogenesisGO:0033379.4GDNF, PAX2, SALL1
12inner ear morphogenesisGO:0424729.4ITGA8, PAX2
13branching involved in ureteric bud morphogenesisGO:0016589.3SALL1, PAX2, GDNF
14positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.3AGTR2, PAX2, GDNF
15positive regulation of transcription, DNA-templatedGO:0458939.1PAX2, SALL1, RET, AGTR2

Products for genes affiliated with Renal Agenesis

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Sources for Renal Agenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet