PKD6
MCID: PLY177
MIFTS: 19

Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease (PKD6)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

MalaCards integrated aliases for Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

Name: Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 58 76 30 6
Pkd6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (range thirties to sixties)
age-dependent manifestations
end-stage renal disease usually after age 60


HPO:

33
polycystic kidney disease 6 with or without polycystic liver disease:
Onset and clinical course adult onset progressive


Classifications:



External Ids:

OMIM 58 618061
MeSH 45 D007690
MedGen 43 CN252647
SNOMED-CT via HPO 70 252157006 255314001 433146000

Summaries for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

OMIM : 58 Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (618061)

MalaCards based summary : Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease, is also known as pkd6. An important gene associated with Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease is DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11). Affiliated tissues include kidney and liver, and related phenotype is stage 5 chronic kidney disease.

UniProtKB/Swiss-Prot : 76 Polycystic kidney disease 6 with or without polycystic liver disease: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD6 inheritance is autosomal dominant.

Related Diseases for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Symptoms & Phenotypes for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Human phenotypes related to Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

33
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
decreased glomerular filtration rate

Metabolic Features:
gout (in some patients)

Genitourinary Kidneys:
renal insufficiency
end-stage renal failure (in some patients)
renal cysts, small (less than 1 cm to 3 cm)
kidneys are not enlarged
interstitial fibrosis (in some patients)

Abdomen Liver:
liver cysts (in some patients)

Clinical features from OMIM:

618061

Drugs & Therapeutics for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease

Genetic Tests for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Genetic tests related to Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 30 DNAJB11

Anatomical Context for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

MalaCards organs/tissues related to Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

42
Kidney, Liver

Publications for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Variations for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

76
# Symbol AA change Variation ID SNP ID
1 DNAJB11 p.Pro54Arg VAR_081002
2 DNAJB11 p.Leu77Pro VAR_081003

ClinVar genetic disease variations for Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB11 NM_016306.5(DNAJB11): c.161C> G (p.Pro54Arg) single nucleotide variant Likely pathogenic rs1553849919 GRCh38 Chromosome 3, 186572187: 186572187
2 DNAJB11 NM_016306.5(DNAJB11): c.161C> G (p.Pro54Arg) single nucleotide variant Likely pathogenic rs1553849919 GRCh37 Chromosome 3, 186289976: 186289976
3 DNAJB11 NM_016306.5(DNAJB11): c.166_167insTT (p.Arg56Leufs) insertion Pathogenic rs1553849920 GRCh38 Chromosome 3, 186572192: 186572193
4 DNAJB11 NM_016306.5(DNAJB11): c.166_167insTT (p.Arg56Leufs) insertion Pathogenic rs1553849920 GRCh37 Chromosome 3, 186289981: 186289982
5 DNAJB11 NM_016306.5(DNAJB11): c.479delC (p.Ala160Glufs) deletion Pathogenic rs1351138670 GRCh38 Chromosome 3, 186581393: 186581393
6 DNAJB11 NM_016306.5(DNAJB11): c.479delC (p.Ala160Glufs) deletion Pathogenic rs1351138670 GRCh37 Chromosome 3, 186299182: 186299182
7 DNAJB11 NM_016306.5(DNAJB11): c.230T> C (p.Leu77Pro) single nucleotide variant Likely pathogenic rs1553850185 GRCh38 Chromosome 3, 186575844: 186575844
8 DNAJB11 NM_016306.5(DNAJB11): c.230T> C (p.Leu77Pro) single nucleotide variant Likely pathogenic rs1553850185 GRCh37 Chromosome 3, 186293633: 186293633
9 DNAJB11 NM_016306.5(DNAJB11): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs941713150 GRCh38 Chromosome 3, 186582011: 186582011
10 DNAJB11 NM_016306.5(DNAJB11): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs941713150 GRCh37 Chromosome 3, 186299800: 186299800

Expression for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Search GEO for disease gene expression data for Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease.

Pathways for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

GO Terms for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

Sources for Polycystic Kidney Disease 6 with or Without Polycystic Liver...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....