BRA
MCID: RNL002
MIFTS: 68

Renal Agenesis (BRA) malady

Nephrological, Fetal categories

Summaries for Renal Agenesis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 renal dysplasia and fraser syndrome, 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). The compounds cholesterol-sulfate and tobramycin have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:47 191830

Aliases & Classifications for Renal Agenesis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 9diseasecard, 22GTR, 61UMLS, 20GeneTests, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
bilateral renal agenesis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

renal agenesis 8 43 47 10 45
renal adysplasia 8 9 22 47 61
urogenital adysplasia, hereditary 43 20
hereditary renal agenesis 43 61
bilateral renal agenesis 43 49
hereditary urogenital adysplasia 8
hereditary renal aplasia 8
oligohydramnios sequence 61
renal aplasia 8
bra 43
hra 43


External Ids:

Disease Ontology8 DOID:14766
OMIM47 191830
MESH via Orphanet36 C536482
ICD10 via Orphanet26 Q60.1

Related Diseases for Renal Agenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 269)
idRelated DiseaseScoreTop Affiliating Genes
1renal dysplasia30.8SALL1, GDNF, RET, PAX2
2fraser syndrome30.3GRIP1, FREM2, FRAS1
3hydronephrosis30.3AGTR2, NAGLU
4kallmann syndrome30.3PROKR2, STS, KAL1
5polycystic kidney disease30.2GDNF, CFTR, PAX2
6cryptorchidism30.2KAL1, STS
7adenocarcinoma30.2UPK3A, STS, TERC, PAX2
8developmental disabilities30.0PAX2, RET, SALL1
9klinefelter's syndrome29.9CFTR, PROKR2, KAL1
10dyskeratosis congenita29.8TERC, DKC1
11urinary tract obstruction29.8NAGLU, GDNF
12wilms tumor29.8GDNF, TERC, PAX2
13syndactyly29.8FRAS1, FREM2, GRIP1
14vesicoureteral reflux29.8UPK3A, AGTR2, NAGLU, PAX2
15teratoma29.8TERC
16adenoma29.8AGTR2, GDNF, RET, TERC, PAX2
17pheochromocytoma29.8AGTR2, GDNF, RET
18unilateral renal agenesis11.0
19didelphys uterus10.7
20costello syndrome10.7
21renal hypoplasia10.4
22double uterus-hemivagina-renal agenesis10.4
23potter's syndrome10.4
24aniridia renal agenesis psychomotor retardation10.4
25jejunal atresia with renal adysplasia10.4
26n syndrome10.3
27thyroid cancer10.3
28werner syndrome10.3
29mullerian agenesis10.3
30renal dysplasia, cystic10.3
31renal adysplasia dominant type10.3
32upk3a-related renal adysplasia10.3
33ret-related renal adysplasia10.3
34oral squamous cell carcinoma10.3
35breast reconstruction10.3
36lung agenesis10.2
37unilateral renal dysplasia10.2
38unilateral renal hypoplasia10.2
39thyroiditis10.2
40thyroid carcinoma, follicular, somatic10.2
41bladder cancer, somatic10.2
42aniridia ataxia renal agenesis psychomotor retardation10.2
43sirenomelia10.2
44bilateral renal hypoplasia10.2
45spitz nevus10.2
46mental retardation10.2
47leopard syndrome10.1
48autoimmune lymphoproliferative syndrome10.1
49hepatitis c10.1
50actinic keratosis10.1

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



Diseases related to renal agenesis

Clinical Features for Renal Agenesis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

191830

Clinical synopsis from OMIM:

191830

Symptoms:

49 (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

Drugs & Therapeutics for Renal Agenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Renal Agenesis:

33
Brain, Cerebellum, Heart, Colon, Kidney, Liver, Lung, Thyroid, Adrenal gland, Skin, Ovary, Uterus, Prostate, Testis, T cells, Fetal brain, Tongue, Fetal liver, Fetal lung, Fetal thyroid, Testis leydig

Animal Models for Renal Agenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Renal Agenesis:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4FREM2
2MP:000537110.3SALL1, HOXD11, FREM2, FRAS1
3MP:00053919.8GRIP1, NAGLU, FREM2, FRAS1, SIX1, CFTR
4MP:00053819.7SALL1, AGTR2, GDNF, RET, SIX1, CFTR
5MP:00053889.7DKC1, RET, FREM2, FRAS1, SIX1, CFTR
6MP:00107719.7PROKR2, AGTR2, GRIP1, DKC1, NAGLU, FREM2
7MP:00053799.7PROKR2, AGTR2, GDNF, RET, SIX1, CFTR
8MP:00053809.7SALL1, GRIP1, DKC1, HOXD11, RET, FREM2
9MP:00053779.6PAX2, SIX1, FREM2, NAGLU, SALL1
10MP:00053899.6PROKR2, DKC1, GDNF, HOXD11, RET, FREM2
11MP:00053909.6SALL1, AGTR2, HOXD11, NAGLU, FREM2, SIX1
12MP:00053869.6SALL1, PROKR2, AGTR2, GDNF, RET, NAGLU
13MP:00053859.5SALL1, AGTR2, GRIP1, GDNF, RET, NAGLU
14MP:00036319.4SALL1, PROKR2, AGTR2, GRIP1, GDNF, HOXD11
15MP:00053789.4DKC1, GRIP1, AGTR2, PROKR2, SALL1, GDNF
16MP:00053849.3GDNF, DKC1, AGTR2, PROKR2, SALL1, HOXD11
17MP:00053679.3PAX2, SALL1, UPK3A, AGTR2, GRIP1, DKC1
18MP:00107688.9HOXD11, GDNF, DKC1, GRIP1, AGTR2, PROKR2

Publications for Renal Agenesis

Sources:
51PubMed
See all sources

Articles related to Renal Agenesis:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Short stature, renal and thumb agenesis associated with situs inversus totalis: a case report. (23072192)
2012
2
Unilateral renal agenesis with absent ductus deferens, epididymis and seminal vesicle: incidental finding in a 22-year-old patient with maldevelopment of the mesonephric duct. (21160165)
2011
3
Congenital pouch colon with unilateral renal agenesis and monorchism. (23056753)
2010
4
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)
2009
5
Congenital ureteral valve associated with contralateral renal agenesis. (19242909)
2009
6
Renal agenesis and unilateral nephrectomy: what are the risks of living with a single kidney? (18612657)
2009
7
The unilateral urogenital anomalies (UUA) rat: a new mutant strain associated with unilateral renal agenesis, cryptorchidism, and malformations of reproductive organs restricted to the left side. (19619415)
2009
8
Renal agenesis in an alpaca cria. (17470065)
2007
9
Tracheomalacia in a patient with unilateral pulmonary and renal agenesis. (18042782)
2007
10
Seminal vesicle cysts with unilateral renal agenesis and contralateral ureteral stenosis in a beta-thalassemic patient: an unknown association by incomplete development of the mesonephric duct. (18025859)
2007
11
Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. (17106555)
2006
12
Bilateral renal agenesis in an alpaca cria. (16579043)
2006
13
Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy. (15987311)
2005
14
Unicornuate uterus with a non-communicating functioning rudimentary horn, associated with ipsilateral renal agenesis. (15310017)
2004
15
Renal agenesis and seminal vesicle cyst. (12562128)
2003
16
Management of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. A case report. (12971149)
2003
17
Seminoma in an intra-abdominal testis misdiagnosed as a kidney tumor and associated with ipsilateral renal agenesis. (12745731)
2003
18
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and contralateral crossed ectopia. (12137846)
2002
19
Combination of renal agenesis with respiratory and alimentary tract atresia results in normal lung development. (11503159)
2001
20
Seminal vesicle cyst with ipsilateral renal agenesis. (10882270)
2000
21
Association of renal agenesis and mullerian duct anomalies. (11105695)
2000
22
Diagnosis and management of seminal vesicle cysts associated with ipsilateral renal agenesis: a pooled analysis of 52 cases. (9643661)
1998
23
Unilateral Darier disease with contralateral renal agenesis. (9606339)
1998
24
Uterus didelphys with unilateral imperforate hemivagina and ipsilateral renal agenesis. (9526822)
1998
25
Uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. (9430833)
1997
26
Congenital ectopic vas deferens inserting into the bladder with ipsilateral renal agenesis. (9061432)
1996
27
Unilateral renal agenesis. (8540439)
1995
28
Incidence of vesicoureteral reflux in children with unilateral renal agenesis. (7869521)
1995
29
Ectopic blind ureter with ipsilateral renal agenesis: a case report. (7556262)
1995
30
Maternal diabetes causing DiGeorge anomaly and renal agenesis. (7762600)
1995
31
Amnioinfusions in renal agenesis. (8159382)
1994
32
Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. (7871484)
1994
33
Sonographic-guided drainage of unilateral hematometrocolpos due to uterus didelphys and obstructed hemivagina associated with ipsilateral renal agenesis. (7962595)
1994
34
Rib tip syndrome with unilateral renal agenesis. (1920241)
1991
35
The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation. (3283716)
1988
36
Kallmann's syndrome with unilateral renal agenesis. A case report. (2877504)
1986
37
Adrenal hypertrophy: possible pitfall in the sonographic diagnosis of renal agenesis. (3517373)
1986
38
Proteinuria and chronic renal failure associated with unilateral renal agenesis. (4077487)
1985
39
Mullerian duct anomalies and unilateral renal agenesis: report of 21 cases from Ramathibodi Hospital. (4031709)
1985
40
Unilateral renal agenesis presenting as a pseudomass in utero. (6726870)
1984
41
Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (= aplasia). Report of three cases. (6873081)
1983
42
Potter's syndrome: bilateral renal agenesis (a report of two cases emphasizing associated malformations). (6673215)
1983
43
Prenatal diagnosis of renal agenesis by ultrasonography and maternal pyelography. (108958)
1979
44
Malposition of the colon in right renal agenesis, ectopia, and anterior nephrectomy. (410248)
1977
45
Letter: Bilateral renal agenesis and serum alpha-fetoprotein. (54628)
1976
46
Ureteral ectopia associated with seminal vesicle cyst and ipsilateral renal agenesis. (1118558)
1975
47
Malposition and displacement of the bowel in renal agenesis and ectopia: new observations. (4685863)
1973
48
RENAL AGENESIS AND BICORNUATE UTERUS. REPORT OF A CASE WITH A BRIEF REVIEW OF THE LITERATURE. (14106318)
1964
49
Primary congenital hypoplasia of lung with renal agenesis. (14032344)
1963
50
CONGENITAL ABSENCE OF ONE KIDNEY: UNILATERAL RENAL AGENESIS. (17866009)
1928

Genetic Variations for Renal Agenesis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Renal Agenesis:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Renal Agenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Renal Agenesis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Renal Agenesis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1cholesterol-sulfate45 1111.5STS, TGM1
2tobramycin4510.5CFTR, NAGLU
3aminoglycosides4510.5NAGLU, GDNF
4trichloroacetic acid4510.4CFTR, NAGLU
5heparan sulfate45 2411.4NAGLU, RET, GDNF, KAL1
6pseudouridine45 2411.2TERC, DKC1
7catecholamine4510.2AGTR2, GDNF, RET
8norepinephrine45 11 2412.1AGTR2, GDNF, CFTR, TERC
91,25 dihydroxy vitamin d34510.1TGM1, GDNF, GRIP1
10retinoic acid45 2411.0STS, GDNF, RET, CFTR, TERC, TGM1
11calcium45 50 11 2412.8STS, PROKR2, AGTR2, GDNF, RET, NAGLU
12steroid459.7KAL1, STS, GRIP1, NAGLU, TGM1

GO Terms for genes affiliated with Renal Agenesis

Sources:
16Gene Ontology
See all sources

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of metanephros sizeGO:03556610.5PAX2, AGTR2
2positive regulation of metanephric glomerulus developmentGO:07230010.5AGTR2, RET, PAX2
3positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:07210810.5GDNF, PAX2
4mesonephric tubule formationGO:07217210.5PAX2, SIX1
5ureter maturationGO:03579910.4RET, PAX2
6positive regulation of ureteric bud formationGO:07210710.4GDNF, SIX1
7organ inductionGO:00175910.4SIX1, HOXD11, GDNF
8middle ear morphogenesisGO:04247410.4SIX2, SIX1, NAGLU
9ureteric bud developmentGO:00165710.4SALL1, RET, SIX1
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
12mesodermal cell fate specificationGO:00750110.3SIX2, PAX2
13kidney developmentGO:00182210.3SALL1, UPK3A, SIX1, SIX2
14metanephric mesenchyme developmentGO:07207510.3PAX2, SIX1
15morphogenesis of an epitheliumGO:00200910.3FRAS1, FREM2
16cochlea morphogenesisGO:09010310.2PAX2, SIX1
17branching involved in ureteric bud morphogenesisGO:00165810.2SALL1, GDNF, HOXD11, SIX1, PAX2
18enteric nervous system developmentGO:04848410.2GDNF, RET
19positive regulation of transcription, DNA-dependentGO:04589310.1SALL1, AGTR2, GRIP1, RET, SIX1, PAX2
20positive 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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Sources for Renal Agenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet