BRA
MCID: RNL002
MIFTS: 77

Renal Agenesis (BRA) malady

Nephrological diseases, Fetal diseases categories

Summaries for Renal Agenesis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 polycystic kidney disease, and has symptoms including uterine/uterus/fallopian tubes anomalies, sirenomelia/mermaid/lower limb fusion and epicanthic folds. An important gene associated with Renal Agenesis is RET (ret proto-oncogene). The compounds cholesterol-sulfate and tobramycin have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and lung, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:46 191830

Aliases & Classifications for Renal Agenesis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

renal agenesis 8 42 46 10 44
renal adysplasia 8 9 22 46 60
urogenital adysplasia, hereditary 42 20
hereditary renal agenesis 42 60
bilateral renal agenesis 42 48
hereditary urogenital adysplasia 8
oligohydramnios sequence 60
hereditary renal aplasia 8
renal aplasia 8
hra 42
bra 42


External Ids:

Disease Ontology8 DOID:14766
OMIM46 191830
MESH via Orphanet35 C536482
ICD10 via Orphanet26 Q60.1

Related Diseases for Renal Agenesis

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17GeneCards, 18GeneDecks
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Diseases related to Renal Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 291)
idRelated DiseaseScoreTop Affiliating Genes
1hydronephrosis30.3AGTR2, NAGLU
2polycystic kidney disease30.2CFTR
3kallmann syndrome30.2STS, KAL1, PROKR2
4cryptorchidism30.2STS, KAL1
5proteinuria30.2AGTR2, PAX2, NAGLU, CFTR
6adenocarcinoma30.2TERC, STS, PAX2, UPK3A
7primary hyperoxaluria30.2AGTR2, CFTR, NAGLU, GDNF, PAX2
8breast cancer30.1PAX2, TERC, SIX1, STS, CFTR, NAGLU
9alzheimer's disease30.0GDNF, TGM1, AGTR2
10adenoma30.0AGTR2, PAX2, RET, TERC, GDNF
11intestinal obstruction30.0GDNF, CFTR, RET
12vesicoureteral reflux30.0PAX2, AGTR2, NAGLU, UPK3A
13developmental disabilities29.9SALL1, PAX2, RET
14klinefelter's syndrome29.8PROKR2, CFTR, KAL1
15familial medullary thyroid carcinoma29.8GDNF
16x-linked ichthyosis29.8TGM1, STS
17dyskeratosis congenita29.8TERC, DKC1
18urinary tract obstruction29.8GDNF, NAGLU
19syndactyly29.8GRIP1, FRAS1, FREM2
20nephrotic syndrome29.8PAX2, NAGLU
21pheochromocytoma29.8RET, AGTR2, GDNF
22costello syndrome10.7
23vaginitis10.5
24potter's syndrome10.4
25aniridia renal agenesis psychomotor retardation10.4
26jejunal atresia with renal adysplasia10.3
27cervicitis10.3
28unilateral renal agenesis10.3
29sarcoma10.3
30thyroid cancer10.3
31werner syndrome10.3
32oligohydramnios10.3
33renal adysplasia dominant type10.3
34upk3a-related renal adysplasia10.3
35ret-related renal adysplasia10.3
36kidney disease10.2
37double uterus-hemivagina-renal agenesis10.2
38breast reconstruction10.2
39melanoma10.2
40oral squamous cell carcinoma10.2
41thyroid carcinoma, follicular, somatic10.2
42bladder cancer, somatic10.2
43urethritis10.2
44infertility10.2
45hypertension10.2
46prostatitis10.2
47renal hypertension10.2
48aniridia ataxia renal agenesis psychomotor retardation10.2
49embryonal rhabdomyosarcoma10.2
50hepatitis10.2

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



Diseases related to renal agenesis

Clinical Features for Renal Agenesis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

191830

Clinical synopsis from OMIM:

191830

Symptoms:

48 (show all 18)
  • uterine/uterus/fallopian tubes anomalies
  • sirenomelia/mermaid/lower limb fusion
  • 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
  • hypertelorism

Drugs & Therapeutics for Renal Agenesis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
See all sources

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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32MalaCards
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MalaCards organs/tissues related to Renal Agenesis:

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

Animal Models for Renal Agenesis or affiliated genes

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Sources:
36MGI
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Publications for Renal Agenesis

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Sources:
50PubMed
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Articles related to Renal Agenesis:

(show top 50)    (show all 513)
idTitleAuthorsYear
1
Infrahepatic inferior vena cava agenesis with bilateral renal vein thrombosis. (23993114)
2013
2
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. (24152999)
2013
3
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. (23064016)
2012
4
Hypertension in a girl with severe coarctation of the aorta and renal agenesis. (22082948)
2012
5
Laparoendoscopic single-site surgery (LESS) for excision of a seminal vesicle cyst associated with ipsilateral renal agenesis. (21755023)
2011
6
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. (20595329)
2011
7
Case report: MRI appearance of isolated fallopian tube torsion in an adolescent with a congenital MA1llerian duct anomaly and ispilateral renal agenesis. (20103428)
2010
8
A new association or coincidence: achondroplasia and unilateral renal agenesis. (21290977)
2010
9
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
10
Kabuki make-up syndrome with unilateral renal agenesis. (19817278)
2009
11
Dysplastic kidney and not renal agenesis is the commonly associated anomaly in infants with seminal vesicle cyst. (19040535)
2009
12
Unilateral renal agenesis and associated MA1llerian anomalies: a case report and recommendations for pre-adolescent screening. (18549968)
2008
13
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. (18426329)
2008
14
Neurocutaneous melanosis with transposition of the great arteries and renal agenesis. (12869156)
2003
15
Unilateral renal agenesis associated with additional congenital abnormalities of the urinary tract in a Pekingese bitch. (11837226)
2002
16
Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. A case report. (11261436)
2001
17
Diagnosis of renal agenesis in a beagle. (11791775)
2001
18
Double uterus with unilaterally obstructed hemivagina and ipsilateral renal agenesis: a variety presentation and a 10-year review of the literature. (10863905)
2000
19
Hematometra and ruptured hematosalpinx with ipsilateral renal agenesis presenting as diffuse peritonitis: a case report. (9083245)
1997
20
Double uterus, blind hemivagina, and ipsilateral renal agenesis: 36 cases and long-term follow-up. (9207807)
1997
21
IgA nephropathy in a patient with unilateral renal agenesis. (8893200)
1996
22
Seminal vesicle cyst, renal agenesis and infertility in a 32-year-old man. (8199846)
1994
23
Simultaneous occurrence of renal agenesis, uterus bicornis, Gartner's duct cyst and a blind ending duplication of the ureter. Case report. (7939470)
1994
24
Familial unilateral renal agenesis and focal and segmental glomerulosclerosis. (8503422)
1993
25
Unilateral renal agenesis in chick embryos: a model for chronic renal insufficiency. (1445790)
1992
26
Prognosis of patients with unilateral renal agenesis. (1457321)
1992
27
Male genital tract malformations associated with ipsilateral renal agenesis: sonographic findings. (1846377)
1991
28
Seminal vesicle cyst and ipsilateral renal agenesis. Case report. (3289926)
1988
29
Bilateral renal agenesis in two litters of Shetland sheepdogs. (3188371)
1988
30
Ectopic ureter opening into seminal vesicle cyst associated with ipsilateral renal agenesis. (3576871)
1987
31
Uterus didelphys with unilateral imperforate vagina and ipsilateral renal agenesis. (3510313)
1986
32
Bilateral renal agenesis in twins. (3890542)
1985
33
Computed tomography of renal agenesis and ectopy. (6713927)
1984
34
The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. (6846397)
1983
35
Fraser syndrome presenting as bilateral renal agenesis in three sibs. (7143389)
1982
36
Duplicated MA1llerian duct remnants: unilateral occlusion and ipsilateral renal agenesis in a male. (6787876)
1981
37
Adrenal sonography in renal agenesis and dysplasia. (6766636)
1980
38
Grand multiparity associated with unilateral renal, ovarian, and MA1llerian agenesis. (6968032)
1980
39
Renal agenesis associated with a congenitally absent vas deferens. (422881)
1979
40
Multiple genitourinary abnormalities in females with unilateral renal agenesis: three cases. (551162)
1979
41
Bicornuate uterus with incomplete vaginal septum and unilateral renal agenesis. Ultrasound demonstration in two patients. (493536)
1979
42
Hemitrigone: renal agenesis or single ureteral ectopia. (628993)
1978
43
Arsenate-induced renal agenesis in rats. (594908)
1977
44
Embryologic pathogenesis of renal agenesis associated with cervical vertebral anomalies (Klippel-Feil phenotype). (922144)
1977
45
Cyst of seminal vesicle with ipsilateral renal agenesis and ectopic ureter: case report. (1003670)
1976
46
Malposition of the colon in left renal agenesis and ectopia. (935488)
1976
47
Familial aggregation in bilateral renal agenesis. (4829427)
1974
48
Seminal vesicle cyst and ipsilateral renal agenesis. (4766857)
1973
49
Bilateral renal agenesis in two female siblings. (5539818)
1971
50
An XXsex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies. (5928014)
1966

Genetic Variations for Renal Agenesis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Renal Agenesis:

62 (show all 20)
id Symbol AA change Variation ID SNP ID
1RETp.Met918ThrVAR_006342rs74799832
2RETp.Met918ThrVAR_006342rs74799832
3RETp.Pro198ThrVAR_044392rs76736111
4RETp.Pro198ThrVAR_044392rs76736111
5RETp.Val376AlaVAR_044393
6RETp.Val376AlaVAR_044393
7RETp.Asn394HisVAR_044394
8RETp.Asn394HisVAR_044394
9RETp.Val778IleVAR_044395rs75686697
10RETp.Val778IleVAR_044395rs75686697
11RETp.Gly894SerVAR_044396
12RETp.Gly894SerVAR_044396
13RETp.Pro1049LeuVAR_044397
14RETp.Pro1049LeuVAR_044397
15RETp.Pro1067SerVAR_044398
16RETp.Pro1067SerVAR_044398
17UPK3Ap.Gly202AspVAR_044400
18UPK3Ap.Gly202AspVAR_044400
19UPK3Ap.Pro273LeuVAR_044401rs121918186
20UPK3Ap.Pro273LeuVAR_044401rs121918186

Expression for genes affiliated with Renal Agenesis

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1BioGPS, 15Gene 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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Compounds for genes affiliated with Renal Agenesis

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1cholesterol-sulfate44 1111.5STS, TGM1
2tobramycin4410.5CFTR, NAGLU
3aminoglycosides4410.5NAGLU, GDNF
4trichloroacetic acid4410.4CFTR, NAGLU
5heparan sulfate44 2411.4NAGLU, RET, GDNF, KAL1
6pseudouridine44 2411.2TERC, DKC1
7catecholamine4410.2AGTR2, GDNF, RET
8norepinephrine44 11 2412.1AGTR2, GDNF, CFTR, TERC
91,25 dihydroxy vitamin d34410.1TGM1, GDNF, GRIP1
10retinoic acid44 2411.0STS, GDNF, RET, CFTR, TERC, TGM1
11calcium44 49 11 2412.8STS, PROKR2, AGTR2, GDNF, RET, NAGLU
12steroid449.7KAL1, STS, GRIP1, NAGLU, TGM1

GO Terms for genes affiliated with Renal Agenesis

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16Gene Ontology
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Biological processes related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1regulation of metanephros sizeGO:03556610.5AGTR2, PAX2
2positive regulation of metanephric glomerulus developmentGO:07230010.5AGTR2, RET, PAX2
3mesonephric tubule formationGO:07217210.5SIX1, PAX2
4positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:07210810.5GDNF, PAX2
5ureter maturationGO:03579910.5RET, PAX2
6positive regulation of ureteric bud formationGO:07210710.5GDNF, SIX1
7ureteric bud developmentGO:00165710.4SIX1, RET, SALL1
8middle ear morphogenesisGO:04247410.4SIX2, SIX1, NAGLU
9mesodermal cell fate specificationGO:00750110.4SIX2, PAX2
10mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00333710.4PAX2, SIX2, GDNF, SALL1
11positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.4PAX2, SIX1, GDNF, AGTR2
12branching involved in ureteric bud morphogenesisGO:00165810.4PAX2, SIX1, GDNF, SALL1
13kidney developmentGO:00182210.4SALL1, UPK3A, SIX1, SIX2
14metanephric mesenchyme developmentGO:07207510.3PAX2, SIX1
15morphogenesis of an epitheliumGO:00200910.3FRAS1, FREM2
16inner ear morphogenesisGO:04247210.3ITGA8, SIX1, PAX2
17organ inductionGO:00175910.2SIX1, GDNF
18cochlea morphogenesisGO:09010310.2PAX2, SIX1
19enteric nervous system developmentGO:04848410.2GDNF, RET
20positive regulation of transcription, DNA-dependentGO:04589310.2SALL1, AGTR2, GRIP1, RET, SIX1, PAX2
21positive regulation of transcription from RNA polymerase II promoterGO:0459449.6PAX2, SIX2, SIX1, GDNF, SALL1

Products for genes affiliated with Renal Agenesis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet