PKD6
MCID: PLY177
MIFTS: 18

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 57 75 29 6
Pkd6 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
polycystic kidney disease 6 with or without polycystic liver disease:
Onset and clinical course adult onset progressive


Classifications:



External Ids:

OMIM 57 618061
MedGen 42 CN252647
MeSH 44 D007690
SNOMED-CT via HPO 69 252157006 255314001 433146000

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

OMIM : 57 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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 32 very rare (1%) HP:0003774

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 29 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:

41
Kidney, Liver

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

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

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 Pathogenic GRCh38 Chromosome 3, 186572187: 186572187
2 DNAJB11 NM_016306.5(DNAJB11): c.161C> G (p.Pro54Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 186289976: 186289976
3 DNAJB11 NM_016306.5(DNAJB11): c.166_167insTT (p.Arg56Leufs) insertion Pathogenic GRCh38 Chromosome 3, 186572192: 186572193
4 DNAJB11 NM_016306.5(DNAJB11): c.166_167insTT (p.Arg56Leufs) insertion Pathogenic GRCh37 Chromosome 3, 186289981: 186289982
5 DNAJB11 NM_016306.5(DNAJB11): c.479delC (p.Ala160Glufs) deletion Pathogenic GRCh38 Chromosome 3, 186581393: 186581393
6 DNAJB11 NM_016306.5(DNAJB11): c.479delC (p.Ala160Glufs) deletion Pathogenic GRCh37 Chromosome 3, 186299182: 186299182
7 DNAJB11 NM_016306.5(DNAJB11): c.230T> C (p.Leu77Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 186575844: 186575844
8 DNAJB11 NM_016306.5(DNAJB11): c.230T> C (p.Leu77Pro) single nucleotide variant Pathogenic 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 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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