MCID: UNL007
MIFTS: 38

Unilateral Renal Agenesis malady

Nephrological diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Unilateral Renal Agenesis

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Sources:
47Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Unilateral Renal Agenesis, Aliases & Descriptions:

Name: Unilateral Renal Agenesis 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
unilateral renal agenesis:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages,Antenatal; Age of death: normal life expectancy


External Ids:

Orphanet47 93100
UMLS via Orphanet61 C0266294
ICD10 via Orphanet26 Q60.0
ICD1025 Q60.0, Q60.1

Summaries for Unilateral Renal Agenesis

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MalaCards based summary: Unilateral Renal Agenesis is related to renal hypodysplasia/aplasia 1 and hypoparathyroidism. An important gene associated with Unilateral Renal Agenesis is FREM2 (FRAS1 related extracellular matrix protein 2). The compounds sorafenib and deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include uterus, kidney and prostate, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Related Diseases for Unilateral Renal Agenesis

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Diseases related to Unilateral Renal Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1renal hypodysplasia/aplasia 130.3UPK3A, RET
2hypoparathyroidism30.3NAGLU, RET
3vesicoureteral reflux30.2UPK3A, NAGLU
4ichthyosis, x-linked10.4STS
5urethritis10.4
6cervicitis10.4
7prostatitis10.4
8vaginitis10.4
9proteinuria10.4
10renal dysplasia10.4
11glomerulosclerosis10.3
12aniridia renal agenesis psychomotor retardation10.3
13blindness10.3
14true unicornuate uterus10.3
15ichthyosis lamellar 110.3TGM1, STS
16ichthyosis vulgaris10.2TGM1, STS
17fraser syndrome10.2FRAS1, FREM2
18palmoplantar keratoderma, nonepidermolytic10.2STS, TGM1
19mullerian aplasia and hyperandrogenism10.1
20acrofacial dysostosis 1, nager type10.1
21achondroplasia10.1
22renal hypodysplasia/aplasia 210.1
23klippel-feil syndrome 1, autosomal dominant10.1
24aniridia10.1
25phenylketonuria10.1
26leopard syndrome 110.1
27chromosome 17q12 deletion syndrome10.1
28renal cysts and diabetes syndrome10.1
29hypogonadotropic hypogonadism 3 with or without anosmia10.1
30digeorge syndrome10.1
31ifap syndrome with or without bresheck syndrome10.1
32lipoma10.1
33wilms tumor10.1
34cryptorchidism10.1
35hypogonadotropic hypogonadism 1 with or without anosmia10.1
36glomerulonephritis10.1
37anuria10.1
38membranous glomerulonephritis10.1
39polydactyly10.1
40hypospadias10.1
41ureterocele10.1
42klippel-feil syndrome10.1
43hypogonadotropism10.1
44kallmann syndrome10.1
45basal cell carcinoma10.1
46hypogonadism10.1
47kidney disease10.1
48nephrotic syndrome10.1
49thyroiditis10.1
50congenital absence of the vas deferens10.1

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



Diseases related to unilateral renal agenesis

Symptoms for Unilateral Renal Agenesis

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Drugs & Therapeutics for Unilateral Renal Agenesis

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Drug clinical trials:

Search ClinicalTrials for Unilateral Renal Agenesis

Search NIH Clinical Center for Unilateral Renal Agenesis

Genetic Tests for Unilateral Renal Agenesis

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Anatomical Context for Unilateral Renal Agenesis

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MalaCards organs/tissues related to Unilateral Renal Agenesis:

31
Uterus, Kidney, Prostate, Colon, Lung, Thyroid

Animal Models for Unilateral Renal Agenesis or affiliated genes

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Publications for Unilateral Renal Agenesis

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Articles related to Unilateral Renal Agenesis:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. (24857274)
2014
2
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. (24879556)
2014
3
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. (23449343)
2013
4
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. (23484247)
2013
5
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
6
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. (21900877)
2012
7
Klippel-Feil syndrome with unilateral renal agenesis and renal failure. (23767212)
2012
8
Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis. (22432683)
2012
9
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
10
Tenofovir induced acute kidney injury in a patient with unilateral renal agenesis despite initially non-impaired renal function. (22112365)
2011
11
Blind hemibladder, ectopic ureterocele, or Gartner's duct cyst in a woman with MA1llerian malformation and supposed unilateral renal agenesis: a case report. (19597716)
2010
12
Editorial comment to Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. (20482666)
2010
13
Adult presentation of congenital ectopic vas deferens insertion into ureter with unilateral renal agenesis. (19629371)
2010
14
Unilateral non-communicating cervical atresia in a patient with uterus didelphys and unilateral renal agenesis. (20813328)
2010
15
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
16
Unilateral renal agenesis and associated MA1llerian anomalies: a case report and recommendations for pre-adolescent screening. (18549968)
2008
17
Uterus didelphys with unilateral renal agenesis. (18505660)
2008
18
Bilateral eventration of the diaphragm with malrotation and unilateral renal agenesis. (17526967)
2007
19
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. (17551328)
2007
20
Unilateral renal agenesis associated with urinary outflow tract obstruction in a diabetic pregnancy. (12974436)
2003
21
Squamous cell carcinoma at herniorrhaphy and unilateral renal agenesis. (12796604)
2003
22
Unilateral renal agenesis associated with additional congenital abnormalities of the urinary tract in a Pekingese bitch. (11837226)
2002
23
Auditory abnormalities associated with unilateral renal agenesis. (11518587)
2001
24
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. (11157821)
2001
25
IgA nephropathy in a patient with unilateral renal agenesis. (8893200)
1996
26
Unilateral renal agenesis. (8540439)
1995
27
Hernia uteri (correction of: uterus) inguinale associated with unilateral renal agenesis. (7575304)
1995
28
Incidence of vesicoureteral reflux in children with unilateral renal agenesis. (7869521)
1995
29
"H-type" urethrorectal communication and complete urethral stenosis with unilateral renal agenesis. (8199135)
1994
30
Unilateral renal agenesis in chick embryos: a model for chronic renal insufficiency. (1445790)
1992
31
Prognosis of patients with unilateral renal agenesis. (1457321)
1992
32
Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features. (1799425)
1991
33
Unilateral renal agenesis with or without ipsilateral adrenal agenesis. (3050154)
1988
34
Proteinuria, hypertension and renal failure in a patient with unilateral renal agenesis. (3631153)
1987
35
Unilateral renal agenesis associated with ipsilateral blind vagina. (3827311)
1987
36
Kallmann's syndrome with unilateral renal agenesis. A case report. (2877504)
1986
37
Proteinuria and chronic renal failure associated with unilateral renal agenesis. (4077487)
1985
38
Two siblings with unilateral renal agenesis. (6500657)
1984
39
Computed tomography and ultrasound studies of prostatic utricle cyst associated with unilateral renal agenesis. A case report. (6719055)
1984
40
Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (= aplasia). Report of three cases. (6873081)
1983
41
Uterine anomalies associated with unilateral renal agenesis. (934555)
1976
42
Unilateral renal agenesis associated with multiple skeletal abnormalities. (1246660)
1976
43
Three cases of cystic seminal vesicle associated with unilateral renal agenesis. (4748400)
1973
44
Vaginal and cervical communication with mesonephric duct remnants: relationship to unilateral renal agenesis. (4697161)
1973
45
Renal transplantation between monozygotic twins discordant for unilateral renal agenesis. (4572161)
1973
46
Unilateral renal agenesis with hypoplastic ureter: observations on the contralateral urinary tract and report of 4 cases. (5033999)
1972
47
Female hypospadias associated with unilateral renal agenesis and genital malformations. A case report. (5566106)
1971
48
Unilateral renal agenesis in the beagle. (5891432)
1965
49
UNILATERAL RENAL AGENESIS, GENITAL ABNORMALITIES AND HYPERTENSION. (14176465)
1964
50
BILATERAL AND UNILATERAL RENAL AGENESIS. (17857321)
1939

Variations for Unilateral Renal Agenesis

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Expression for genes affiliated with Unilateral Renal Agenesis

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Search GEO for disease gene expression data for Unilateral Renal Agenesis.

Pathways for genes affiliated with Unilateral Renal Agenesis

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Compounds for genes affiliated with Unilateral Renal Agenesis

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Compounds related to Unilateral Renal Agenesis according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1sorafenib43 49 1211.8RET, STS
2deoxyribonucleic acid439.7BMP4, STS
3cholesterol-sulfate43 1210.6STS, TGM1
4heparan sulfate43 2410.2BMP4, RET, NAGLU
5dbc-amp439.2NAGLU, BMP4
6lead439.1STS, NAGLU
7dopamine43 28 24 1212.1BMP4, RET, NAGLU
8sulfate43 2410.0NAGLU, STS, BMP4
9vitamin a43 24 1211.0RET, NAGLU, TGM1
10retinoic acid43 249.9TGM1, RET, STS, BMP4
11thymidine43 249.7BMP4, NAGLU, TGM1
12progesterone43 28 59 24 1212.7BMP4, STS, TGM1
13cysteine438.6BMP4, STS, RET, NAGLU
14steroid438.4TGM1, NAGLU, STS, BMP4
15lipid438.3TGM1, NAGLU, RET, STS
16calcium43 49 24 1210.0BMP4, TGM1, NAGLU, FREM2, FRAS1, FREM1

GO Terms for genes affiliated with Unilateral Renal Agenesis

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Cellular components related to Unilateral Renal Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.4FREM1, FRAS1, FREM2

Biological processes related to Unilateral Renal Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1morphogenesis of an epitheliumGO:00020099.7FRAS1, FREM2
2kidney developmentGO:00018229.7BMP4, UPK3A
3ureteric bud developmentGO:00016579.5BMP4, RET
4cell communicationGO:00071549.4FREM1, FRAS1, FREM2

Molecular functions related to Unilateral Renal Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.6RET, DSTYK

Products for genes affiliated with Unilateral Renal Agenesis

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Sources for Unilateral Renal Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet