MCID: RNL036
MIFTS: 10

Renal Dysplasia Diffuse Cystic

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Renal Dysplasia Diffuse Cystic

MalaCards integrated aliases for Renal Dysplasia Diffuse Cystic:

Name: Renal Dysplasia Diffuse Cystic 53 29 6
Diffuse Cystic Renal Dysplasia 53

Classifications:



Summaries for Renal Dysplasia Diffuse Cystic

MalaCards based summary : Renal Dysplasia Diffuse Cystic, also known as diffuse cystic renal dysplasia, is related to renal dysplasia and caroli disease, isolated. An important gene associated with Renal Dysplasia Diffuse Cystic is BICC1 (BicC Family RNA Binding Protein 1).

Related Diseases for Renal Dysplasia Diffuse Cystic

Diseases related to Renal Dysplasia Diffuse Cystic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal dysplasia 10.0
2 caroli disease, isolated 9.8
3 polydactyly 9.8
4 caroli disease 9.8
5 situs inversus 9.8

Graphical network of the top 20 diseases related to Renal Dysplasia Diffuse Cystic:



Diseases related to Renal Dysplasia Diffuse Cystic

Symptoms & Phenotypes for Renal Dysplasia Diffuse Cystic

Drugs & Therapeutics for Renal Dysplasia Diffuse Cystic

Search Clinical Trials , NIH Clinical Center for Renal Dysplasia Diffuse Cystic

Genetic Tests for Renal Dysplasia Diffuse Cystic

Genetic tests related to Renal Dysplasia Diffuse Cystic:

# Genetic test Affiliating Genes
1 Renal Dysplasia Diffuse Cystic 29 BICC1

Anatomical Context for Renal Dysplasia Diffuse Cystic

Publications for Renal Dysplasia Diffuse Cystic

Articles related to Renal Dysplasia Diffuse Cystic:

# Title Authors Year
1
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
2
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
3
Diffuse cystic renal dysplasia: nonsyndromal familial case. ( 8725780 )
1996

Variations for Renal Dysplasia Diffuse Cystic

ClinVar genetic disease variations for Renal Dysplasia Diffuse Cystic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BICC1 NM_001080512.2(BICC1): c.259C> T (p.Gln87Ter) single nucleotide variant risk factor rs387907123 GRCh37 Chromosome 10, 60461855: 60461855
2 BICC1 NM_001080512.2(BICC1): c.259C> T (p.Gln87Ter) single nucleotide variant risk factor rs387907123 GRCh38 Chromosome 10, 58702095: 58702095
3 BICC1 NM_001080512.2(BICC1): c.2795A> G (p.Glu932Gly) single nucleotide variant risk factor rs387907124 GRCh37 Chromosome 10, 60588521: 60588521
4 BICC1 NM_001080512.2(BICC1): c.2795A> G (p.Glu932Gly) single nucleotide variant risk factor rs387907124 GRCh38 Chromosome 10, 58828761: 58828761

Expression for Renal Dysplasia Diffuse Cystic

Search GEO for disease gene expression data for Renal Dysplasia Diffuse Cystic.

Pathways for Renal Dysplasia Diffuse Cystic

GO Terms for Renal Dysplasia Diffuse Cystic

Sources for Renal Dysplasia Diffuse Cystic

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