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
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. (23798876)
2013
2
Klippel-Feil syndrome with unilateral renal agenesis and renal failure. (23767212)
2012
3
Unilateral lacrimal fistula in a patient with uterus didelphys and renal agenesis. (22258183)
2012
4
Laparoscopic excision of a congenital seminal vesicle cyst associated with ipsilateral renal agenesis. (21508619)
2011
5
Renal agenesis in a child with ipsilateral hemihypertrophy. (20407912)
2010
6
Unilateral renal agenesis and female genital tract pathologies. (20799917)
2010
7
Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. (16977473)
2007
8
Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. (17503029)
2007
9
Seminal vesicle cyst and ipsilateral renal agenesis: laparoscopic approach. (18309901)
2007
10
A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies. (16502432)
2006
11
Unilateral renal agenesis presenting with acute obstructive postrenal failure following administration of hydration fluid. (16911092)
2006
12
Congenital seminal vesicle cyst and coexisting renal agenesis: laparoscopic approach. (15028467)
2004
13
Complex genital malformation: ectopic ureter ending in a supposed mesonephric duct in a woman with renal agenesis and ipsilateral blind hemivagina. (15474254)
2004
14
Unilateral renal agenesis associated with urinary outflow tract obstruction in a diabetic pregnancy. (12974436)
2003
15
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. (12884440)
2003
16
Laparoscopic management of congenital seminal vesicle cysts associated with ipsilateral renal agenesis. (11832710)
2002
17
Auditory abnormalities associated with unilateral renal agenesis. (11518587)
2001
18
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. (11157821)
2001
19
Exstrophy of bladder associated with unilateral renal agenesis and bicornuate uterus: a case report. (11795648)
2001
20
An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma. (11152150)
2001
21
Unicornuate uterus with a noncommunicating cavitary, laterally dislocated rudimentary horn presenting with adenomyosis, associated with ipsilateral renal agenesis. (11045330)
2000
22
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
23
Renal agenesis and ureteropelvic junction obstruction in an infant with Turner syndrome. (9176586)
1997
24
A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis. (9406252)
1997
25
Renal agenesis and hypodysplasia in ret-k- mutant mice result from defects in ureteric bud development. (8674430)
1996
26
Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios. (8610763)
1995
27
Seminal vesicle cyst, renal agenesis and infertility. (7850286)
1995
28
Renal agenesis: an acquired condition? (8201519)
1994
29
Deficient outgrowth of the ureteric bud underlies the renal agenesis phenotype in mice manifesting the limb deformity (ld) mutation. (7517224)
1994
30
The use of saline solution as a contrast medium in suspected diaphragmatic hernia and renal agenesis. (8498432)
1993
31
Uterus didelphys with unilateral obstructed hemivagina and renal agenesis on the same side. (1315107)
1992
32
Congenital hydrocolpos combined with unilateral renal agenesis. (1801551)
1991
33
Fraser syndrome with renal agenesis in two consanguineous Turkish families. (2389805)
1990
34
Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus. (2669483)
1989
35
MRI in the prenatal diagnosis of bilateral renal agenesis. (2536487)
1989
36
Unilateral renal agenesis associated with bicornuate uterus. (3070892)
1988
37
Renal and testicular agenesis in a patient with Darier's disease. (3993667)
1985
38
A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. (6507477)
1984
39
Association of bilateral renal agenesis and Di George syndrome in an infant of a diabetic mother. (6891697)
1982
40
Polythelia and unilateral renal agenesis. (7128201)
1982
41
Cryptophthalmos syndrome with bilateral renal agenesis. (6264788)
1981
42
Congenital uterine anomaly with renal agenesis. (96151)
1978
43
Seminal vesicle cyst associated with ipsilateral renal agenesis. (726177)
1978
44
Prenatal diagnosis of bilateral renal agenesis. (857212)
1977
45
Genetic aspects of hydronephrosis associated with renal agenesis. (4413559)
1974
46
An aberrant origin of the inferior suprarenal arteries associated with renal agenesis. (4411939)
1974
47
Unilateral renal agenesis with hypoplastic ureter: observations on the contralateral urinary tract and report of 4 cases. (5033999)
1972
48
Female hypospadias associated with unilateral renal agenesis and genital malformations. A case report. (5566106)
1971
49
Renal agenesis, oligohydramnios and diabetes mellitus. (4891577)
1969
50
Cyst of seminal vesicle associated with ipsilateral renal agenesis: case report. (14032723)
1963

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