MCID: RNL123
MIFTS: 26

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 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Orphanet 59 ORPHA1848
UMLS via Orphanet 74 C1609433
MESH via Orphanet 45 C536482
ICD10 via Orphanet 34 Q60.1
ICD10 33 Q60.1

Summaries for Renal Agenesis, Bilateral

MalaCards based summary : Renal Agenesis, Bilateral is related to renal hypodysplasia/aplasia 1 and renal hypodysplasia/aplasia 3. An important gene associated with Renal Agenesis, Bilateral is FGF20 (Fibroblast Growth Factor 20), and among its related pathways/superpathways is G-protein signaling_RhoA regulation pathway. The drugs Pharmaceutical Solutions and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include heart, 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:

# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 31.9 GREB1L ITGA8 RET
2 renal hypodysplasia/aplasia 3 29.6 GREB1L RET
3 renal hypodysplasia/aplasia 2 11.1
4 bilateral renal aplasia 9.8 FGF20 ITGA8

Symptoms & Phenotypes for Renal Agenesis, Bilateral

Human phenotypes related to Renal Agenesis, Bilateral:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
5 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
6 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
7 urogenital fistula 59 32 frequent (33%) Frequent (79-30%) HP:0100589
8 tracheoesophageal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0002575
9 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
10 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
11 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
12 renal agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000104
13 sirenomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010497
14 fetal polyuria 59 32 frequent (33%) Frequent (79-30%) HP:0001563
15 nonketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001958
16 malformation of the heart and great vessels 59 Frequent (79-30%)
17 abnormality of the sacrum 59 Frequent (79-30%)
18 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
19 abnormality of the intestine 59 Frequent (79-30%)
20 abnormal intestine morphology 32 frequent (33%) HP:0002242
21 abnormal sacrum morphology 32 frequent (33%) HP:0005107

MGI Mouse Phenotypes related to Renal Agenesis, Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.46 FGF20 GREB1L ITGA8 RET
2 renal/urinary system MP:0005367 9.13 GREB1L ITGA8 RET
3 respiratory system MP:0005388 8.8 GREB1L ITGA8 RET

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,Not Applicable
2 Anesthetics, Local Not Applicable
3 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia Not yet recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
2 Renal Agenesis Fetal Therapy Recruiting NCT03101891 Not Applicable Normal Saline, 0.9% injectable solution
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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:

41
Heart

Publications for Renal Agenesis, Bilateral

Variations for Renal Agenesis, Bilateral

Expression for Renal Agenesis, Bilateral

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

Pathways for Renal Agenesis, Bilateral

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

# Super pathways Score Top Affiliating Genes
1 10.31 FGF20 ITGA8

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 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.4 FGF20 RET
2 MAPK cascade GO:0000165 9.37 FGF20 RET
3 cell differentiation GO:0030154 9.33 FGF20 ITGA8 RET
4 peptidyl-tyrosine phosphorylation GO:0018108 9.32 FGF20 RET
5 positive regulation of protein kinase B signaling GO:0051897 9.26 FGF20 RET
6 kidney development GO:0001822 8.96 GREB1L ITGA8
7 metanephros development GO:0001656 8.62 GREB1L ITGA8

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 8.96 FGF20 RET
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.62 FGF20 RET

Sources for Renal Agenesis, Bilateral

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
50 NCIt
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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