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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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
Unilateral uterine segmentary aplasia, papillary endometrial hyperplasia and ipsilateral renal agenesis in a cat. (23172697)
2013
2
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich syndrome) suspected on the presence of hydrocolpos on prenatal sonography. (22678931)
2013
3
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
4
An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report. (23032147)
2012
5
Autosomal dominant polycystic kidney disease with contralateral renal agenesis. (23169372)
2012
6
Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis. (21985433)
2012
7
Maternal diabetes and renal agenesis/dysgenesis. (20706994)
2010
8
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. (20811621)
2010
9
Unilateral non-communicating cervical atresia in a patient with uterus didelphys and unilateral renal agenesis. (20813328)
2010
10
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. (19732862)
2009
11
Congenital seminal vesicle cyst associated with ipsilateral renal agenesis. (19718406)
2009
12
Adrenal gland hypertrophy in a case of homolateral renal agenesis: case report with special emphasis on adrenal blood supply. (19107316)
2009
13
Uterus didelphys with unilateral obstructed hemivagina with hematometrocolpos and hematosalpinx with ipsilateral renal agenesis. (19881156)
2009
14
Uterus didelphys with unilateral renal agenesis. (18505660)
2008
15
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. (17551328)
2007
16
Genetic approaches to human renal agenesis/hypoplasia and dysplasia. (17437132)
2007
17
False diagnosis of renal agenesis on fetal MRI. (15543544)
2005
18
Agenesis of the bladder with solitary renal dysplasia: management of a challenging condition. (15182414)
2004
19
Gestational hypertension and preeclampsia associated with unilateral renal agenesis in women with uterine malformations. (15099869)
2004
20
Associated urological anomalies in children with unilateral renal agenesis. (10458436)
1999
21
Compensatory renal growth in the solitary kidneys of Danforth mice with genetic renal agenesis. (9628636)
1998
22
Splenic torsion in the presence of renal agenesis. (9639635)
1998
23
Angiomyolipoma of the left ureterovesical junction associated with ipsilateral renal agenesis. (7752345)
1995
24
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis: MR findings before and after vaginal septum resection. (7601165)
1995
25
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? (7856668)
1994
26
"H-type" urethrorectal communication and complete urethral stenosis with unilateral renal agenesis. (8199135)
1994
27
Uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis: the University of Minnesota experience. (1555685)
1992
28
Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features. (1799425)
1991
29
Role of transvaginal sonography in the diagnosis of bilateral renal agenesis. (1814304)
1991
30
Unilateral renal agenesis associated with ipsilateral blind vagina. (3827311)
1987
31
Ultrasonic recognition of a cystic seminal vesicle with ipsilateral renal agenesis. (3520020)
1986
32
Bilateral renal agenesis--an unusual case. (6600046)
1984
33
Ectasia of the rete testis with ipsilateral renal agenesis. (7176032)
1982
34
Role of the kidney in foetal erythropoiesis: erythropoiesis and erythropoietin levels in newborn mice with renal agenesis. (7264539)
1981
35
Dermoid cyst of the prostate with contralateral renal agenesis. (7284728)
1981
36
Diagnosis of renal agenesis using ultrasonography. (7378716)
1980
37
Raised serum AFP levels and fetal renal agenesis. (6153445)
1980
38
Cyst of seminal vesicle associated with ipsilateral renal agenesis. A report on four cases. (419379)
1979
39
Renal functional adaptation in the remnant kidney in patients with renal agenesis and in patients nephrectomized in childhood. (696307)
1978
40
Double vas deferens and epididymis associated with ipsilateral renal agenesis simulating ectopic ureter opening into the seminal vesicle. (635490)
1978
41
Uterine anomalies associated with unilateral renal agenesis. (934555)
1976
42
Unilateral renal agenesis presenting as anuria. (1003653)
1976
43
Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. (4419812)
1974
44
Diagnosis of renal agenesis. (4637522)
1972
45
Amniotic fluid volume in experimentally induced renal agenesis and anencephaly. (5116137)
1971
46
Urogenital malformation with cyst of the seminal vesicle, ipsilateral dilated ureter, and renal agenesis. Report of a case and review of the literature. (5730984)
1968
47
Bilateral renal agenesis with severe urinary tract dysplasia. (5848737)
1965
48
UNILATERAL RENAL AGENESIS, GENITAL ABNORMALITIES AND HYPERTENSION. (14176465)
1964
49
Unilateral renal agenesis in two siblings. Case report. (13900618)
1962
50
Sirenomelia and monomelia with renal agenesis and amnion nodosum. (13795887)
1960

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

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