MCID: RNL123
MIFTS: 37

Renal Agenesis, Bilateral

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Agenesis, Bilateral

MalaCards integrated aliases for Renal Agenesis, Bilateral:

Name: Renal Agenesis, Bilateral 58 32
Bilateral Renal Agenesis 6

Characteristics:

Orphanet epidemiological data:

58
renal agenesis, bilateral
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q60.1
MESH via Orphanet 45 C536482
ICD10 via Orphanet 33 Q60.1
UMLS via Orphanet 71 C1609433
Orphanet 58 ORPHA1848

Summaries for Renal Agenesis, Bilateral

MalaCards based summary : Renal Agenesis, Bilateral, also known as bilateral renal agenesis, is related to renal hypodysplasia/aplasia 3 and renal hypodysplasia/aplasia 1. An important gene associated with Renal Agenesis, Bilateral is FGF20 (Fibroblast Growth Factor 20). The drugs Pharmaceutical Solutions and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and adrenal gland, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Renal Agenesis, Bilateral

Diseases in the Renal Agenesis, Bilateral family:

Bilateral Renal Agenesis Dominant Type

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 3 31.0 RET GREB1L
2 renal hypodysplasia/aplasia 1 29.9 ROBO1 RET ITGA8 GREB1L FGF20
3 cakut 29.9 ROBO1 RET ITGA8 GREB1L FGF20
4 potter's syndrome 11.3
5 bilateral renal agenesis dominant type 11.3
6 mayer-rokitansky-kuster-hauser syndrome 11.1
7 bifid nose with or without anorectal and renal anomalies 11.1
8 renal hypodysplasia/aplasia 2 11.1
9 oligohydramnios 10.5
10 fraser syndrome 1 10.2
11 chromosomal triplication 10.1
12 congenital anomalies of kidney and urinary tract 1 10.0
13 polyhydramnios 10.0
14 47,xyy 10.0
15 branchiootorenal syndrome 1 9.9
16 cleft palate, isolated 9.9
17 papillorenal syndrome 9.9
18 hair whorl 9.9
19 hirschsprung disease 1 9.9
20 hypertelorism 9.9
21 hemifacial microsomia 9.9
22 chromosome 2q35 duplication syndrome 9.9
23 wilms tumor 1 9.9
24 anus, imperforate 9.9
25 type 1 diabetes mellitus 9.9
26 duodenal atresia 9.9
27 holzgreve syndrome 9.9
28 hydrops fetalis, nonimmune 9.9
29 body mass index quantitative trait locus 1 9.9
30 chromosome 16p13.3 duplication syndrome 9.9
31 lymphatic malformation 7 9.9
32 autosomal recessive disease 9.9
33 myelomeningocele 9.9
34 acrofacial dysostosis 9.9
35 human cytomegalovirus infection 9.9
36 esophageal atresia 9.9
37 pre-eclampsia 9.9
38 microphthalmia 9.9
39 hemopericardium 9.9
40 patau syndrome 9.9
41 pericardial effusion 9.9
42 pancytopenia 9.9
43 vacterl association 9.9
44 dysostosis 9.9
45 iron metabolism disease 9.9
46 angiodysplasia 9.9
47 teratoma 9.9
48 end stage renal disease 9.9
49 cocaine abuse 9.9
50 placental abruption 9.9

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



Diseases related to Renal Agenesis, Bilateral

Symptoms & Phenotypes for Renal Agenesis, Bilateral

Human phenotypes related to Renal Agenesis, Bilateral:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
4 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
5 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
6 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
7 renal agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000104
8 nonketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001958
9 tracheoesophageal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0002575
10 urogenital fistula 58 31 frequent (33%) Frequent (79-30%) HP:0100589
11 abnormal sacrum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005107
12 abnormal intestine morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002242
13 fetal polyuria 58 31 frequent (33%) Frequent (79-30%) HP:0001563
14 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
15 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
17 sirenomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010497
18 abnormal morphology of female internal genitalia 31 occasional (7.5%) HP:0000008
19 malformation of the heart and great vessels 58 Frequent (79-30%)
20 abnormality of female internal genitalia 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Renal Agenesis, Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 FGF20 GREB1L ITGA8 RET ROBO1
2 renal/urinary system MP:0005367 9.26 GREB1L ITGA8 RET ROBO1
3 respiratory system MP:0005388 8.92 GREB1L ITGA8 RET ROBO1

Drugs & Therapeutics for Renal Agenesis, Bilateral

Drugs for Renal Agenesis, Bilateral (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1
2 Anesthetics Phase 1
3 Anesthetics, Local Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies- a Feasibility Study Recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
2 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Phase 1 Isotonic fluid

Search NIH Clinical Center for Renal Agenesis, Bilateral

Genetic Tests for Renal Agenesis, Bilateral

Anatomical Context for Renal Agenesis, Bilateral

MalaCards organs/tissues related to Renal Agenesis, Bilateral:

40
Kidney, Heart, Adrenal Gland

Publications for Renal Agenesis, Bilateral

Articles related to Renal Agenesis, Bilateral:

(show top 50) (show all 296)
# Title Authors PMID Year
1
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies. 6
29194579 2018
2
GREB1L as a candidate gene of Mayer-Rokitansky-Küster-Hauser Syndrome. 61
33548512 2021
3
May-Thurner Syndrome Is Aggravated by Pregnancy. 61
33804526 2021
4
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. 61
33020172 2021
5
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. 61
33159882 2020
6
Nephron Progenitor Maintenance Is Controlled through Fibroblast Growth Factors and Sprouty1 Interaction. 61
32753399 2020
7
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome. 61
32378186 2020
8
Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study. 61
32533284 2020
9
Serial Amnioinfusion as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies: Systematic Review and Future Perspectives. 61
32793867 2020
10
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
11
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. 61
32643034 2020
12
Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions? 61
32003482 2020
13
Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention. 61
32516788 2020
14
Response to "Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention" by RAFT Investigators. 61
32772023 2020
15
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. 61
31840946 2020
16
Two infants with bilateral renal agenesis who were bridged by chronic peritoneal dialysis to kidney transplantation. 61
31259459 2019
17
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation. 61
32734212 2019
18
Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis. 61
31098643 2019
19
A Case of Type I Sirenomelia Complicated by Severe Oligohydramnios in the First Trimester. 61
31956455 2019
20
Amnioinfusions to Treat Early Onset Anhydramnios Caused by Renal Anomalies: Background and Rationale for the Renal Anhydramnios Fetal Therapy Trial. 61
30897573 2019
21
A Case of Mayer-Rokitansky-Küster-Hauser Syndrome with a Fused Pancake-shaped Pelvic Kidney. 61
31259164 2019
22
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. 61
30237475 2018
23
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. 61
29704304 2018
24
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. 61
29261186 2018
25
Aphallia: A Very Rare Congenital Anomaly, With Associated Genitourinary And Ano-Rectal Malformation. 61
29938433 2018
26
Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011. 61
29094488 2018
27
Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities? 61
29377640 2018
28
Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis. 61
29215523 2018
29
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. 61
28693936 2017
30
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. 61
28739660 2017
31
Renal anomalies and lymphedema distichiasis syndrome. A rare association? 61
28544699 2017
32
Evidence-based, ethically justified counseling for fetal bilateral renal agenesis. 61
28222038 2017
33
Bi-parametric magnetic resonance imaging applied to obstetrics. 61
28303733 2017
34
[Ultrasound of the fetal urinary system during the first trimester of pregnancy]. 61
28552751 2017
35
Renal development in the fetus and premature infant. 61
28161315 2017
36
Framing the conversation for exploring innovative techniques in therapy: the example of bilateral renal agenesis. 61
29108145 2017
37
A Singleton Infant with Bilateral Renal Agenesis and Normal Pulmonary Function. 61
29279782 2017
38
Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects. 61
27443814 2016
39
Types and Outcome of Fetal Urinary Anomalies in Low Resource Setting Countries: A Retrospective Study. 61
27486275 2016
40
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]. 61
27234469 2016
41
Dentin Dysplasia in Notum Knockout Mice. 61
26926082 2016
42
Fraser Syndrome - a Case Report and Review of Literature. 61
28465758 2016
43
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. 61
25845272 2016
44
Polyhydramnios in Lrp4 knockout mice with bilateral kidney agenesis: Defects in the pathways of amniotic fluid clearance. 61
26847765 2016
45
Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract. 61
26981222 2016
46
Cloacal dysgenesis sequence with bilateral renal agenesis and normal pulmonary development in twin pregnancy. 61
26791133 2016
47
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. 61
26670448 2015
48
Lipid Rafts Are Physiologic Membrane Microdomains Necessary for the Morphogenic and Developmental Functions of Glial Cell Line-Derived Neurotrophic Factor In Vivo. 61
26400951 2015
49
Outcomes and management strategies in pregnancies with early onset oligohydramnios. 61
26152010 2015
50
Fetal phenotype associated with the 22q11 deletion. 61
25111715 2014

Variations for Renal Agenesis, Bilateral

ClinVar genetic disease variations for Renal Agenesis, Bilateral:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ROBO1 NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter) SNV Likely pathogenic 996101 GRCh37: 3:78649381-78649381
GRCh38: 3:78600231-78600231
2 ROBO1 NM_002941.4(ROBO1):c.526C>T (p.Pro176Ser) SNV Likely pathogenic 996111 GRCh37: 3:78796024-78796024
GRCh38: 3:78746874-78746874

Expression for Renal Agenesis, Bilateral

Search GEO for disease gene expression data for Renal Agenesis, Bilateral.

Pathways for Renal Agenesis, Bilateral

GO Terms for Renal Agenesis, Bilateral

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.63 ROBO1 ITGA8 FGF20
2 cell adhesion GO:0007155 9.5 ROBO1 RET ITGA8
3 positive regulation of protein kinase B signaling GO:0051897 9.43 RET FGF20
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.4 ROBO1 RET
5 kidney development GO:0001822 9.37 ITGA8 GREB1L
6 nervous system development GO:0007399 9.33 ROBO1 RET ITGA8
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 ROBO1 RET
8 positive regulation of gene expression GO:0010628 9.13 ROBO1 RET FGF20
9 multicellular organism development GO:0007275 8.92 ROBO1 RET ITGA8 GREB1L

Sources for Renal Agenesis, Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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