BRA
MCID: RNL002
MIFTS: 70

Renal Agenesis (BRA) malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Renal Agenesis

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Wikipedia:65 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...

MalaCards based summary: Renal Agenesis, also known as renal adysplasia, is related to renal hypodysplasia/aplasia 1 and hydronephrosis, and has symptoms including hypertelorism, epicanthic folds and short columella/depressed nasal tip. 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 cholesterol-sulfate and sorafenib have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and lung, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Descriptions from OMIM:46 191830,615721

Aliases & Classifications for Renal Agenesis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 9diseasecard, 22GTR, 62UMLS, 20GeneTests, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Renal Agenesis, Aliases & Descriptions:

Name: Renal Agenesis 8 42 46 10 44 48
Renal Adysplasia 8 9 22 62
Urogenital Adysplasia, Hereditary 42 20
Hereditary Renal Agenesis 42 62
Bilateral Renal Agenesis 42 48
Hereditary Renal Aplasia 8 62
 
Hereditary Urogenital Adysplasia 8
Oligohydramnios Sequence 62
Renal Aplasia 8
Bra 42
Hra 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
bilateral renal agenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

Disease Ontology8 DOID:14766
MESH via Orphanet35 C536482
ICD10 via Orphanet26 Q60.1

Related Diseases for Renal Agenesis

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

(show top 50)    (show all 225)
idRelated DiseaseScoreTop Affiliating Genes
1renal hypodysplasia/aplasia 130.8ITGA8
2hydronephrosis30.7NAGLU, AGTR2
3renal dysplasia30.6RET, SALL1, GDNF
4kallmann syndrome30.6KAL1, STS
5hypoparathyroidism30.5NAGLU, RET
6vesicoureteral reflux30.5AGTR2, NAGLU
7cryptorchidism30.5STS, KAL1
8pancreatic cancer30.3GDNF, RET
9hirschsprung's disease30.3GDNF, RET
10neurofibromatosis30.3RET, GDNF
11x-linked ichthyosis30.2TGM1, STS
12primary hyperoxaluria30.2AGTR2, GDNF, NAGLU
13pheochromocytoma30.1AGTR2, GDNF, RET
14hypogonadism30.0STS, KAL1
15mental retardation29.6NAGLU, AGTR2, STS, GDNF
16unilateral renal agenesis11.0
17costello syndrome10.8
18vaginitis10.5
19blindness10.5
20sarcoma10.5
21jejunal atresia with renal adysplasia10.5
22familial medullary thyroid carcinoma10.4GDNF
23potter's syndrome10.4
24central hypoventilation syndrome10.4GDNF
25aniridia renal agenesis psychomotor retardation10.4
26thyroid cancer10.4
27cervicitis10.4
28oral squamous cell carcinoma10.3
29oligohydramnios10.3
30renal adysplasia dominant type10.3
31upk3a-related renal adysplasia10.3
32ret-related renal adysplasia10.3
33neuroma10.3GDNF, RET
34multiple endocrine neoplasia type 2a10.3RET, GDNF
35intestinal obstruction10.3GDNF, RET
36kidney disease10.3
37double uterus-hemivagina-renal agenesis10.3
38fraser syndrome10.3
39spitz nevus10.3
40congenital myopathy with excess of muscle spindles10.3
41developmental disabilities10.3SALL1, RET
42multiple endocrine neoplasia10.3GDNF, RET
43thyroid medullary carcinoma10.2RET, GDNF
44hypertension10.2
45urethritis10.2
46infertility10.2
47prostatitis10.2
48aniridia ataxia renal agenesis psychomotor retardation10.2
49sirenomelia10.2
50renal hypoplasia10.2

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



Diseases related to renal agenesis

Symptoms for Renal Agenesis

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Clinical features from OMIM:

191830,615721

Symptoms:

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

HPO human phenotypes related to Renal Agenesis:

(show all 17)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 hypertelorism hallmark (90%) HP:0000316
3 abnormality of the nose hallmark (90%) HP:0000366
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 oligohydramnios hallmark (90%) HP:0001562
6 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
7 renal hypoplasia/aplasia hallmark (90%) HP:0008678
8 micrognathia typical (50%) HP:0000347
9 abnormality of the intestine typical (50%) HP:0002242
10 malformation of the heart and great vessels typical (50%) HP:0002564
11 tracheoesophageal fistula typical (50%) HP:0002575
12 abnormality of the sacrum typical (50%) HP:0005107
13 urogenital fistula typical (50%) HP:0100589
14 abnormality of female internal genitalia occasional (7.5%) HP:0000008
15 cleft palate occasional (7.5%) HP:0000175
16 sirenomelia occasional (7.5%) HP:0010497
17 non-midline cleft lip occasional (7.5%) HP:0100335

Drugs & Therapeutics for Renal Agenesis

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Drug clinical trials:

Search ClinicalTrials for Renal Agenesis

Search NIH Clinical Center for Renal Agenesis

Genetic Tests for Renal Agenesis

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Genetic tests related to Renal Agenesis:

id Genetic test Affiliating Genes
1 Urogenital Adysplasia, Hereditary20
2 Renal Adysplasia22

Anatomical Context for Renal Agenesis

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MalaCards organs/tissues related to Renal Agenesis:

32
Uterus, Kidney, Lung, Colon, Testis, Prostate, Brain, Thyroid, Ovary, Cerebellum, Heart, Liver, Adrenal gland, Skin

Animal Models for Renal Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Renal Agenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7AGTR2, RET, SALL1, GDNF
2MP:00053778.7NAGLU, SALL1, ITGA8, FGF20
3MP:00053677.8AGTR2, ITGA8, RET, SALL1, NAGLU, GDNF
4MP:00053857.6GDNF, NAGLU, SALL1, RET, AGTR2
5MP:00053847.6GDNF, NAGLU, SALL1, RET, ITGA8, AGTR2
6MP:00053787.4GDNF, TGM1, NAGLU, SALL1, RET, AGTR2
7MP:00036317.4GDNF, NAGLU, SALL1, RET, ITGA8, AGTR2
8MP:00053867.3GDNF, TGM1, NAGLU, SALL1, RET, ITGA8
9MP:00107687.3GDNF, TGM1, NAGLU, SALL1, RET, ITGA8

Publications for Renal Agenesis

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Articles related to Renal Agenesis:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Erratum to: Unilateral lacrimal fistula in a patient with uterus didelphys and renal agenesis. (25287750)
2014
2
Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis. (24583054)
2014
3
Scimitar syndrome with renal agenesis. (22536564)
2012
4
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
5
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. (21900877)
2012
6
Giant seminal vesicle cyst causing ipsilateral hydronephrosis with contralateral renal agenesis. (21762968)
2012
7
Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association? (20966746)
2011
8
Maternal diabetes and renal agenesis/dysgenesis. (20706994)
2010
9
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (19732862)
2009
10
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
11
Bilateral eventration of the diaphragm with malrotation and unilateral renal agenesis. (17526967)
2007
12
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. (17551328)
2007
13
Genetic approaches to human renal agenesis/hypoplasia and dysplasia. (17437132)
2007
14
Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. (16977473)
2007
15
Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. (17503029)
2007
16
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. (16719279)
2006
17
False diagnosis of renal agenesis on fetal MRI. (15543544)
2005
18
Neurocutaneous melanosis with transposition of the great arteries and renal agenesis. (12869156)
2003
19
Congenital renal agenesis: a review. (17657105)
2003
20
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and contralateral crossed ectopia. (12137846)
2002
21
Unilateral renal agenesis associated with additional congenital abnormalities of the urinary tract in a Pekingese bitch. (11837226)
2002
22
Seminal vesicle cyst with ipsilateral renal agenesis. (10882270)
2000
23
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
24
Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome? (9823496)
1998
25
Uterus didelphis with obstructed hemivagina and ipsilateral renal agenesis: ultrasound and magnetic resonance imaging diagnosis. (9127139)
1997
26
Unilateral intermittent occlusion of a bicornuate uterus in association with ipsilateral renal agenesis and vena cava inferior duplication. (9198522)
1997
27
Congenital ectopic vas deferens inserting into the bladder with ipsilateral renal agenesis. (9061432)
1996
28
Renal agenesis and the absence of enteric neurons in mice lacking GDNF. (8657306)
1996
29
Unilateral renal agenesis. (8540439)
1995
30
Hernia uteri (correction of: uterus) inguinale associated with unilateral renal agenesis. (7575304)
1995
31
Incidence of vesicoureteral reflux in children with unilateral renal agenesis. (7869521)
1995
32
Seminal vesicle cyst with ipsilateral renal agenesis. (8434428)
1993
33
Unilateral renal agenesis in chick embryos: a model for chronic renal insufficiency. (1445790)
1992
34
Uterus didelphys with an obstructed hemivagina and ipsilateral renal agenesis: a rare cause of acute abdomen in pubertal girls. (1779329)
1991
35
Prenatal sonographic diagnosis of unilateral fetal renal agenesis. (2172312)
1990
36
Size of the fetal adrenal in bilateral renal agenesis. (2196498)
1990
37
Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. (2669483)
1989
38
Unilateral renal agenesis with or without ipsilateral adrenal agenesis. (3050154)
1988
39
Proteinuria, hypertension and renal failure in a patient with unilateral renal agenesis. (3631153)
1987
40
Recurrent bilateral renal agenesis. (3777051)
1986
41
Kallmann's syndrome with unilateral renal agenesis. A case report. (2877504)
1986
42
Two siblings with unilateral renal agenesis. (6500657)
1984
43
Birth frequency of bilateral renal agenesis. (7241537)
1981
44
Adrenal sonography in renal agenesis and dysplasia. (6766636)
1980
45
Congenital uterine anomaly with renal agenesis. (96151)
1978
46
Three cases of cystic seminal vesicle associated with unilateral renal agenesis. (4748400)
1973
47
Unilateral renal agenesis with hypoplastic ureter: observations on the contralateral urinary tract and report of 4 cases. (5033999)
1972
48
Renal agenesis and pulmonary hypoplasia. (4650851)
1972
49
Female hypospadias associated with unilateral renal agenesis and genital malformations. A case report. (5566106)
1971
50
BILATERAL AND UNILATERAL RENAL AGENESIS. (17857321)
1939

Variations for Renal Agenesis

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UniProtKB/Swiss-Prot genetic disease variations for Renal Agenesis:

64
id Symbol AA change Variation ID SNP ID
1ITGA8p.Gly407ArgVAR_071107

Clinvar genetic disease variations for Renal Agenesis:

6
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
4FGF20NM_019851.2(FGF20): c.337delG (p.Val113Trpfs)deletionPathogenicGRCh37Chr 8, 16853217: 16853217

Expression for genes affiliated with Renal Agenesis

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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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Pathways related to Renal Agenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RET, GDNF
29.6RET, GDNF

Compounds for genes affiliated with Renal Agenesis

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 28IUPHAR
See all sources

Compounds related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1cholesterol-sulfate44 1110.9TGM1, STS
2sorafenib44 50 1111.9STS, RET
3enalapril44 50 1111.5AGTR2, NAGLU
4catecholamine449.5AGTR2, RET, GDNF
5aminoglycosides449.4GDNF, NAGLU
6vitamin a44 24 1111.3RET, NAGLU, TGM1
7arginine449.2TGM1, SALL1, RET, AGTR2
8dbc-amp449.0NAGLU, GDNF
9dopamine44 28 24 1111.9GDNF, NAGLU, RET
10losartan44 50 28 1111.9AGTR2, NAGLU
11retinoic acid44 249.9GDNF, TGM1, RET, STS
12aspartate448.7GDNF, NAGLU, RET
13superoxide44 249.7AGTR2, NAGLU, GDNF
14sodium44 249.7GDNF, NAGLU, AGTR2
15creatinine448.6AGTR2, NAGLU, GDNF
16heparan sulfate44 249.6RET, NAGLU, KAL1, GDNF
17alanine448.6GDNF, NAGLU, RET, AGTR2
18steroid448.5KAL1, TGM1, NAGLU, STS
19nitric oxide44 24 1110.5GDNF, TGM1, NAGLU, AGTR2
20zinc44 249.4STS, SALL1, NAGLU, GDNF
21cysteine448.4STS, RET, NAGLU, GDNF
22heparin44 28 24 1111.4NAGLU, KAL1, GDNF
23oxygen44 249.3GDNF, NAGLU, STS, AGTR2
24lipid448.1GDNF, TGM1, NAGLU, RET, STS
25calcium44 50 24 1110.7AGTR2, STS, RET, NAGLU, TGM1, GDNF

GO Terms for genes affiliated with Renal Agenesis

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of metanephric glomerulus developmentGO:0723009.9AGTR2, RET
2enteric nervous system developmentGO:0484849.7RET, GDNF
3ureteric bud developmentGO:0016579.7RET, SALL1
4mesenchymal to epithelial transition involved in metanephros morphogenesisGO:0033379.7SALL1, GDNF
5metanephros developmentGO:0016569.6GDNF, ITGA8
6neural crest cell migrationGO:0017559.6RET, GDNF
7positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.5AGTR2, GDNF
8positive regulation of transcription, DNA-templatedGO:0458939.3AGTR2, RET, SALL1
9branching involved in ureteric bud morphogenesisGO:0016589.2GDNF, SALL1

Products for genes affiliated with Renal Agenesis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Renal Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet