MCID: RNL122
MIFTS: 43

Renal Hypodysplasia/aplasia 3

Categories: Genetic diseases, Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Hypodysplasia/aplasia 3

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 3:

Name: Renal Hypodysplasia/aplasia 3 57 75 6
Unilateral Renal Agenesis 29 6
Rhda3 57 75
Renal Agenesis, Unilateral 59

Characteristics:

Orphanet epidemiological data:

59
renal agenesis, unilateral
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages,Antenatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero
death in utero or in the perinatal period may occur
highly variable phenotype
incomplete penetrance


Classifications:



External Ids:

OMIM 57 617805
Orphanet 59 ORPHA93100
UMLS via Orphanet 74 C0266294
ICD10 via Orphanet 34 Q60.0
MedGen 42 CN703737
MeSH 44 D007674
ICD10 33 Q60.0

Summaries for Renal Hypodysplasia/aplasia 3

OMIM : 57 RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). (617805)

MalaCards based summary : Renal Hypodysplasia/aplasia 3, also known as unilateral renal agenesis, is related to renal hypodysplasia/aplasia 1 and microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs. An important gene associated with Renal Hypodysplasia/aplasia 3 is GREB1L (GREB1 Like Retinoic Acid Receptor Coactivator), and among its related pathways/superpathways are Bladder cancer and Central carbon metabolism in cancer. Affiliated tissues include kidney, uterus and prostate, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 75 Renal hypodysplasia/aplasia 3: A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease.

Related Diseases for Renal Hypodysplasia/aplasia 3

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 3:



Diseases related to Renal Hypodysplasia/aplasia 3

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
potter sequence (rare)

Genitourinary Kidneys:
renal aplasia
renal dysplasia
multicystic kidneys (less common)
horseshoe kidney

Genitourinary Bladder:
vesicoureteral reflux (in some patients)

Genitourinary Internal Genitalia Female:
uterine abnormalities (n some patients)
ovarian abnormalities (in some patients)

Genitourinary Ureters:
hydronephrosis (in some patients)
duplicated ureter (in some patients)


Clinical features from OMIM:

617805

GenomeRNAi Phenotypes related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.68 FREM1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 DSTYK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.68 FGFR3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 FREM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 RET
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 RET
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 DSTYK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 RET
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.68 RET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 DSTYK
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.68 RET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.68 FREM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 FREM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 FGFR3 RET
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 FGFR3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 RET
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 DSTYK
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 DSTYK FGFR3 FREM1 RET
20 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.96 DSTYK RET

MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.8 BMP4 FGFR3 FRAS1 FREM1 FREM2
2 digestive/alimentary MP:0005381 9.77 BMP4 FGFR3 FRAS1 FREM1 RET
3 limbs/digits/tail MP:0005371 9.73 BMP4 FGFR3 FRAS1 FREM1 FREM2 RET
4 integument MP:0010771 9.72 BMP4 FGFR3 FRAS1 FREM1 FREM2
5 renal/urinary system MP:0005367 9.7 FGFR3 FRAS1 FREM1 FREM2 RET UPK3A
6 respiratory system MP:0005388 9.43 BMP4 FGFR3 FRAS1 FREM1 FREM2 RET
7 vision/eye MP:0005391 9.02 BMP4 FGFR3 FRAS1 FREM1 FREM2

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 3

Search Clinical Trials , NIH Clinical Center for Renal Hypodysplasia/aplasia 3

Genetic Tests for Renal Hypodysplasia/aplasia 3

Genetic tests related to Renal Hypodysplasia/aplasia 3:

# Genetic test Affiliating Genes
1 Unilateral Renal Agenesis 29

Anatomical Context for Renal Hypodysplasia/aplasia 3

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 3:

41
Kidney, Uterus, Prostate, Lung, Colon, Thyroid

Publications for Renal Hypodysplasia/aplasia 3

Articles related to Renal Hypodysplasia/aplasia 3:

(show top 50) (show all 129)
# Title Authors Year
1
Complete dorsal pancreatic agenesis and unilateral renal agenesis. ( 29487639 )
2018
2
Association of Unilateral Renal Agenesis With Adverse Outcomes in Pregnancy: A Matched Cohort Study. ( 28396109 )
2017
3
Unilateral renal agenesis with subseptate uterus and sacrococcygeal teratoma: A unique triad. ( 29089677 )
2017
4
[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]. ( 26669685 )
2016
5
Pseudo-Exstrophy of Bladder with Unilateral Renal Agenesis: A Rare Combination of two Anomalies. ( 28208931 )
2016
6
Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report. ( 27036947 )
2016
7
Reproductive outcome in uterine malformations with or without an associated unilateral renal agenesis. ( 24597290 )
2014
8
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
9
Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant? ( 25402868 )
2014
10
Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis. ( 24857274 )
2014
11
Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report. ( 24533416 )
2014
12
An abnormally large prostatic utricle cyst associated with unilateral renal agenesis. ( 23798876 )
2013
13
Herlyn-Werner-Wuderlich syndrome: uterus didelphys and obstructed hemivagina with unilateral renal agenesis. ( 23484247 )
2013
14
Renal outcome of children with unilateral renal agenesis. ( 24577979 )
2013
15
Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. ( 23449343 )
2013
16
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. ( 24152999 )
2013
17
Renal function and solitary kidney disease: Wilms tumour survivors versus patients with unilateral renal agenesis. ( 22116374 )
2012
18
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ( 22417229 )
2012
19
Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis. ( 22432683 )
2012
20
A new syndrome of microtia with unilateral renal agenesis and short stature. ( 22711661 )
2012
21
Klippel-Feil syndrome with unilateral renal agenesis and renal failure. ( 23767212 )
2012
22
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012
23
Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome. ( 21084978 )
2011
24
A case of maternal phenylketonuria syndrome presenting with unilateral renal agenesis. ( 20595329 )
2011
25
Age-related pathophysiological changes in rats with unilateral renal agenesis. ( 21307619 )
2011
26
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
27
Tenofovir induced acute kidney injury in a patient with unilateral renal agenesis despite initially non-impaired renal function. ( 22112365 )
2011
28
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
29
Unilateral non-communicating cervical atresia in a patient with uterus didelphys and unilateral renal agenesis. ( 20813328 )
2010
30
Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis. ( 20830244 )
2010
31
Editorial comment to Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20482666 )
2010
32
Unilateral renal agenesis and female genital tract pathologies. ( 20799917 )
2010
33
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
34
Congenital pouch colon with unilateral renal agenesis and monorchism. ( 23056753 )
2010
35
Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. ( 20345491 )
2010
36
Adult presentation of congenital ectopic vas deferens insertion into ureter with unilateral renal agenesis. ( 19629371 )
2010
37
Kabuki make-up syndrome with unilateral renal agenesis. ( 19817278 )
2009
38
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
39
Uterus didelphys with unilateral renal agenesis. ( 18505660 )
2008
40
Unilateral renal agenesis and associated MA1llerian anomalies: a case report and recommendations for pre-adolescent screening. ( 18549968 )
2008
41
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
42
Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. ( 17468528 )
2007
43
Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives. ( 16956352 )
2007
44
Rare combination of unilateral renal agenesis, congenital obstructive posterior urethral membrane, and enlarged prostatic utricle, with absence of hydroureteronephrosis. ( 18068471 )
2007
45
Bilateral eventration of the diaphragm with malrotation and unilateral renal agenesis. ( 17526967 )
2007
46
A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance. ( 17551328 )
2007
47
Blood pressure, renal function, and proteinuria in children with unilateral renal agenesis. ( 16960459 )
2006
48
Unilateral renal agenesis presenting with acute obstructive postrenal failure following administration of hydration fluid. ( 16911092 )
2006
49
Renal dysplasia with unilateral renal agenesis in a dog. ( 15899491 )
2005
50
Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy. ( 15987311 )
2005

Variations for Renal Hypodysplasia/aplasia 3

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 3:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
2 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
3 46;XY;t(6;12)(q14;q24);20p+dn complex Pathogenic
4 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21515583: 21515583
5 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19098101: 19098101
6 GREB1L NM_001142966.2(GREB1L): c.5378T> G (p.Leu1793Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21518140: 21518140
7 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic GRCh37 Chromosome 18, 19100785: 19100785
8 GREB1L NM_001142966.2(GREB1L): c.5608+1delG deletion Pathogenic GRCh38 Chromosome 18, 21520824: 21520824
9 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic GRCh38 Chromosome 18, 21500568: 21500569
10 GREB1L NM_001142966.2(GREB1L): c.3998_3999insC (p.Leu1334Profs) insertion Pathogenic GRCh37 Chromosome 18, 19080529: 19080530
11 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508536: 21508536
12 GREB1L NM_001142966.2(GREB1L): c.4680C> A (p.Tyr1560Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088497: 19088497
13 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508556: 21508556
14 GREB1L NM_001142966.2(GREB1L): c.4700T> C (p.Leu1567Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088517: 19088517
15 GREB1L NM_001142966.2(GREB1L): c.5068G> A (p.Val1690Met) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19095544: 19095544
16 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19076563: 19076563
17 GREB1L NM_001142966.2(GREB1L): c.3295C> T (p.Gln1099Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21496602: 21496602
18 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic GRCh37 Chromosome 18, 19029659: 19029659
19 GREB1L NM_001142966.2(GREB1L): c.1582delC (p.Gln528Argfs) deletion Pathogenic GRCh38 Chromosome 18, 21449698: 21449698
20 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088078: 19088078
21 GREB1L NM_001142966.2(GREB1L): c.4369-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508117: 21508117
22 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21451082: 21451082
23 GREB1L NM_001142966.2(GREB1L): c.1780G> T (p.Glu594Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19031043: 19031043
24 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21508463: 21508463
25 GREB1L NM_001142966.2(GREB1L): c.4607A> G (p.His1536Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19088424: 19088424
26 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21473099: 21473099
27 GREB1L NM_001142966.2(GREB1L): c.2251C> T (p.Arg751Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19053060: 19053060
28 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 21440302: 21440302
29 GREB1L NM_001142966.2(GREB1L): c.983G> A (p.Arg328Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 19020263: 19020263
30 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh37 Chromosome 13, 39425230: 39425230
31 FREM2 NM_207361.5(FREM2): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs767978562 GRCh38 Chromosome 13, 38851093: 38851093

Expression for Renal Hypodysplasia/aplasia 3

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 3.

Pathways for Renal Hypodysplasia/aplasia 3

Pathways related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 FGFR3 UPK3A
2 10.44 FGFR3 RET

GO Terms for Renal Hypodysplasia/aplasia 3

Cellular components related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FRAS1 FREM1 FREM2

Biological processes related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.73 BMP4 DSTYK FGFR3 RET
2 multicellular organism development GO:0007275 9.63 BMP4 FGFR3 FREM1 FREM2 GREB1L RET
3 peptidyl-tyrosine phosphorylation GO:0018108 9.58 DSTYK FGFR3 RET
4 embryonic digit morphogenesis GO:0042733 9.55 BMP4 FREM2
5 embryonic limb morphogenesis GO:0030326 9.54 BMP4 FRAS1
6 branching involved in ureteric bud morphogenesis GO:0001658 9.52 BMP4 GREB1L
7 ureteric bud development GO:0001657 9.51 BMP4 RET
8 kidney development GO:0001822 9.5 BMP4 GREB1L UPK3A
9 chondrocyte differentiation GO:0002062 9.49 BMP4 FGFR3
10 metanephros development GO:0001656 9.48 BMP4 GREB1L
11 endochondral ossification GO:0001958 9.46 BMP4 FGFR3
12 positive regulation of kinase activity GO:0033674 9.43 DSTYK FGFR3 RET
13 morphogenesis of an epithelium GO:0002009 9.37 FRAS1 FREM2
14 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.26 BMP4 DSTYK FGFR3 RET
15 cell communication GO:0007154 8.8 FRAS1 FREM1 FREM2

Molecular functions related to Renal Hypodysplasia/aplasia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitogen-activated protein kinase kinase binding GO:0031434 9.16 FGFR3 RET
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 FGFR3 RET
3 protein tyrosine kinase activity GO:0004713 8.8 DSTYK FGFR3 RET

Sources for Renal Hypodysplasia/aplasia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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