PKD6
MCID: PLY177
MIFTS: 22

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

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Respiratory 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 72 29 6
Pkd6 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
polycystic kidney disease 6 with or without polycystic liver disease:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

OMIM® 57 618061
OMIM Phenotypic Series 57 PS173900
MeSH 44 D007690

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). The renal interstitial fibrosis suggests overlap with autosomal dominant tubulointerstitial kidney disease (ADTKD; see 162000) (summary by Devuyst et al., 2019). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (618061) (Updated 20-May-2021)

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 phenotypes are gout and stage 5 chronic kidney disease

UniProtKB/Swiss-Prot : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 gout 31 very rare (1%) HP:0001997
2 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
3 hepatic cysts 31 very rare (1%) HP:0001407
4 hypertension 31 HP:0000822
5 decreased glomerular filtration rate 31 HP:0012213

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Kidney, Liver

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

Articles related to Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease:

# Title Authors PMID Year
1
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. 57 6
29706351 2018
2
Autosomal dominant tubulointerstitial kidney disease. 57
31488840 2019
3
Transfection and recombination with molecularly cloned derivatives of avian sarcoma virus UR2. 61
3020788 1986

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 Name Type Significance ClinVarId dbSNP ID Position
1 DNAJB11 NM_016306.5(DNAJB11):c.166_167insTT (p.Arg56fs) Insertion Pathogenic 549848 rs1553849920 GRCh37: 3:186289981-186289982
GRCh38: 3:186572192-186572193
2 DNAJB11 NM_016306.5(DNAJB11):c.479del (p.Ala160fs) Deletion Pathogenic 549849 rs1351138670 GRCh37: 3:186299182-186299182
GRCh38: 3:186581393-186581393
3 DNAJB11 NM_016306.5(DNAJB11):c.616C>T (p.Arg206Ter) SNV Pathogenic 549851 rs941713150 GRCh37: 3:186299800-186299800
GRCh38: 3:186582011-186582011
4 DNAJB11 NM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro) SNV Likely pathogenic 549850 rs1553850185 GRCh37: 3:186293633-186293633
GRCh38: 3:186575844-186575844
5 DNAJB11 NM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg) SNV Likely pathogenic 549847 rs1553849919 GRCh37: 3:186289976-186289976
GRCh38: 3:186572187-186572187
6 DNAJB11 NM_016306.6(DNAJB11):c.800T>C (p.Val267Ala) SNV Uncertain significance 987515 GRCh37: 3:186301713-186301713
GRCh38: 3:186583924-186583924
7 DNAJB11 NM_016306.6(DNAJB11):c.743A>T (p.His248Leu) SNV Uncertain significance 992421 GRCh37: 3:186301656-186301656
GRCh38: 3:186583867-186583867

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

72
# Symbol AA change Variation ID SNP ID
1 DNAJB11 p.Pro54Arg VAR_081002 rs155384991
2 DNAJB11 p.Leu77Pro VAR_081003 rs155385018

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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