MCID: PLY176
MIFTS: 23

Polycystic Kidney Disease 4

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

Aliases & Classifications for Polycystic Kidney Disease 4

MalaCards integrated aliases for Polycystic Kidney Disease 4:

Name: Polycystic Kidney Disease 4 12 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080212

Summaries for Polycystic Kidney Disease 4

Disease Ontology : 12 A autosomal recessive polycystic kidney disease that has material basis in mutation in the PKD4 gene.

MalaCards based summary : Polycystic Kidney Disease 4 is related to polycystic kidney disease 4 with or without polycystic liver disease and cystic kidney disease. An important gene associated with Polycystic Kidney Disease 4 is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney.

Related Diseases for Polycystic Kidney Disease 4

Diseases in the Polycystic Kidney Disease family:

Polycystic Kidney Disease 5 Polycystic Kidney Disease 4
Autosomal Dominant Polycystic Kidney Disease

Diseases related to Polycystic Kidney Disease 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 4 with or without polycystic liver disease 11.8
2 cystic kidney disease 10.1 PKHD1 ALB
3 ascending cholangitis 10.1 PKHD1 ALB
4 esophageal varix 10.1 PKHD1 ALB
5 hepatic vascular disease 10.0 PKHD1 ALB
6 congenitally corrected transposition of the great arteries 10.0 TNNT2 NPPB
7 intermittent claudication 10.0 TNNT2 ALB
8 hydrops of gallbladder 10.0 NPPB ALB
9 constrictive pericarditis 10.0 NPPB ALB
10 inappropriate adh syndrome 10.0 NPPB ALB
11 left bundle branch hemiblock 10.0 TNNT2 NPPB
12 cardiac tamponade 10.0 NPPB ALB
13 euthyroid sick syndrome 10.0 NPPB ALB
14 tricuspid valve insufficiency 10.0 NPPB ALB
15 amyloidosis, hereditary, transthyretin-related 10.0 NPPB ALB
16 acute myocarditis 10.0 TNNT2 NPPB
17 oligohydramnios 10.0 PKHD1 NPPB
18 apnea, obstructive sleep 10.0 NPPB ALB
19 renal hypertension 10.0 NPPB ALB
20 rheumatic fever 9.9 NPPB ALB
21 pericardial effusion 9.9 NPPB ALB
22 coronary stenosis 9.9 NPPB ALB
23 extrinsic cardiomyopathy 9.9 TNNT2 NPPB
24 pulmonary edema 9.9 TNNT2 NPPB
25 polycystic liver disease 9.9 PKHD1 ALB
26 wolff-parkinson-white syndrome 9.9 TNNT2 NPPB
27 immuno-osseous dysplasia 9.9 ELN ALB
28 sleep apnea 9.9 NPPB ALB
29 prolapse of urethra 9.9 ELN ALB
30 cardiomyopathy, familial hypertrophic, 20 9.9 ELN ALB
31 intrinsic cardiomyopathy 9.9 TNNT2 NPPB
32 kawasaki disease 9.9 NPPB ALB
33 plasma protein metabolism disease 9.9 ELN ALB
34 pulmonary emphysema 9.8 ELN ALB
35 costello syndrome 9.8 TNNT2 ELN
36 alpha-1-antitrypsin deficiency 9.8 ELN ALB
37 bacterial pneumonia 9.8 ELN ALB
38 homocysteinemia 9.8 ELN ALB
39 mitral valve disease 9.8 NPPB ELN
40 orthostatic intolerance 9.8 PKHD1 ELN
41 kidney disease 9.8 PKHD1 NPPB ALB
42 restrictive cardiomyopathy 9.7 TNNT2 NPPB
43 mucopolysaccharidosis-plus syndrome 9.7 ELN ALB
44 tricuspid valve disease 9.7 TNNT2 NPPB ALB
45 pericardium disease 9.7 TNNT2 NPPB ALB
46 pulmonary artery disease 9.7 TNNT2 NPPB ALB
47 pericarditis 9.7 TNNT2 NPPB ALB
48 pulmonary embolism 9.7 TNNT2 NPPB ALB
49 cardiac arrest 9.7 TNNT2 NPPB ALB
50 patent foramen ovale 9.7 TNNT2 NPPB ALB

Graphical network of the top 20 diseases related to Polycystic Kidney Disease 4:



Diseases related to Polycystic Kidney Disease 4

Symptoms & Phenotypes for Polycystic Kidney Disease 4

Drugs & Therapeutics for Polycystic Kidney Disease 4

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease 4

Genetic Tests for Polycystic Kidney Disease 4

Genetic tests related to Polycystic Kidney Disease 4:

# Genetic test Affiliating Genes
1 Polycystic Kidney Disease 4 29

Anatomical Context for Polycystic Kidney Disease 4

MalaCards organs/tissues related to Polycystic Kidney Disease 4:

40
Kidney

Publications for Polycystic Kidney Disease 4

Articles related to Polycystic Kidney Disease 4:

# Title Authors PMID Year
1
Cardiovascular System Affection and Its Relation to First-Year Mortality in Patients Initiating Maintenance Hemodialysis. 61
32753937 2020
2
Relationship between divided-shaped kidney and collecting system duplication. 61
25876835 2015
3
Polycystic kidney disease: a case of suppressed autophagy? 61
24485027 2014
4
Peritoneal dialysis in children under two years of age. 61
18308772 2008
5
Cerebral hemorrhage in recipients of renal transplantation. 61
10560598 1999

Variations for Polycystic Kidney Disease 4

ClinVar genetic disease variations for Polycystic Kidney Disease 4:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKHD1 NM_138694.4(PKHD1):c.4481del (p.Asn1494fs) Deletion Pathogenic 996129 GRCh37: 6:51890127-51890127
GRCh38: 6:52025329-52025329
2 PKHD1 NM_138694.4(PKHD1):c.1694-2A>G SNV Pathogenic 997473 GRCh37: 6:51920529-51920529
GRCh38: 6:52055731-52055731
3 PKHD1 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) Deletion Pathogenic 188746 rs746972457 GRCh37: 6:51890842-51890842
GRCh38: 6:52026044-52026044
4 PKHD1 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) SNV Pathogenic 188813 rs200179145 GRCh37: 6:51768399-51768399
GRCh38: 6:51903601-51903601
5 PKHD1 NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) Duplication Pathogenic 167486 rs746838237 GRCh37: 6:51824680-51824681
GRCh38: 6:51959882-51959883
6 PKHD1 NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) SNV Pathogenic 96387 rs398124478 GRCh37: 6:51913356-51913356
GRCh38: 6:52048558-52048558
7 PKHD1 NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) SNV Pathogenic 406891 rs369925690 GRCh37: 6:51935807-51935807
GRCh38: 6:52071009-52071009
8 PKHD1 NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) SNV Pathogenic 188876 rs745770404 GRCh37: 6:51914955-51914955
GRCh38: 6:52050157-52050157
9 PKHD1 NM_138694.4(PKHD1):c.1233+1G>A SNV Pathogenic 357452 rs886061623 GRCh37: 6:51924725-51924725
GRCh38: 6:52059927-52059927
10 PKHD1 NM_138694.4(PKHD1):c.11830del (p.His3944fs) Deletion Pathogenic 1030194 GRCh37: 6:51484274-51484274
GRCh38: 6:51619476-51619476
11 PKHD1 NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) SNV Pathogenic 551016 rs144193508 GRCh37: 6:51484223-51484223
GRCh38: 6:51619425-51619425
12 PKHD1 NM_138694.4(PKHD1):c.1964+1G>T SNV Pathogenic 972469 GRCh37: 6:51918835-51918835
GRCh38: 6:52054037-52054037
13 PKHD1 NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) SNV Pathogenic 188896 rs148617572 GRCh37: 6:51524480-51524480
GRCh38: 6:51659682-51659682
14 PKHD1 NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) SNV Pathogenic 1030192 GRCh37: 6:51513912-51513912
GRCh38: 6:51649114-51649114
15 PKHD1 NM_138694.4(PKHD1):c.353del (p.Ser118fs) Deletion Pathogenic 96397 rs398124483 GRCh37: 6:51944735-51944735
GRCh38: 6:52079937-52079937
16 PKHD1 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) SNV Pathogenic 188369 rs200391019 GRCh37: 6:51889738-51889738
GRCh38: 6:52024940-52024940
17 PKHD1 NM_138694.4(PKHD1):c.5752-2A>G SNV Pathogenic 370333 rs1057516407 GRCh37: 6:51824826-51824826
GRCh38: 6:51960028-51960028
18 PKHD1 NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) SNV Pathogenic 598347 rs770494581 GRCh37: 6:51927452-51927452
GRCh38: 6:52062654-52062654
19 PKHD1 NM_138694.4(PKHD1):c.10637del (p.Val3546fs) Deletion Pathogenic 279874 rs770461067 GRCh37: 6:51524287-51524287
GRCh38: 6:51659489-51659489
20 PKHD1 NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) SNV Pathogenic 4108 rs137852944 GRCh37: 6:51947999-51947999
GRCh38: 6:52083201-52083201
21 PKHD1 NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) SNV Pathogenic 636941 rs200432861 GRCh37: 6:51640642-51640642
GRCh38: 6:51775844-51775844
22 PKHD1 NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) SNV Pathogenic 377018 rs200511261 GRCh37: 6:51612884-51612884
GRCh38: 6:51748086-51748086
23 PKHD1 NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) Deletion Pathogenic 96444 rs398124502 GRCh37: 6:51612725-51612725
GRCh38: 6:51747927-51747927
24 PKHD1 NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) SNV Likely pathogenic 1031148 GRCh37: 6:51613184-51613184
GRCh38: 6:51748386-51748386
25 PKHD1 NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) Deletion Likely pathogenic 930285 GRCh37: 6:51712659-51712660
GRCh38: 6:51847861-51847862
26 PKHD1 NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) SNV Likely pathogenic 931940 GRCh37: 6:51941093-51941093
GRCh38: 6:52076295-52076295
27 PKHD1 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) SNV Likely pathogenic 196052 rs773136605 GRCh37: 6:51907900-51907900
GRCh38: 6:52043102-52043102
28 PKHD1 NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) SNV Uncertain significance 645403 rs1385935333 GRCh37: 6:51503701-51503701
GRCh38: 6:51638903-51638903
29 PKHD1 NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) SNV Uncertain significance 931939 GRCh37: 6:51612789-51612789
GRCh38: 6:51747991-51747991
30 PKHD1 NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) SNV Uncertain significance 167492 rs727504090 GRCh37: 6:51915054-51915054
GRCh38: 6:52050256-52050256
31 PKHD1 NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) SNV Uncertain significance 1030195 GRCh37: 6:51913320-51913320
GRCh38: 6:52048522-52048522
32 PKHD1 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) SNV Uncertain significance 198306 rs149798764 GRCh37: 6:51609303-51609303
GRCh38: 6:51744505-51744505
33 PKHD1 NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) SNV Uncertain significance 1030197 GRCh37: 6:51882382-51882382
GRCh38: 6:52017584-52017584
34 PKHD1 NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly) SNV Uncertain significance 1030196 GRCh37: 6:51890965-51890965
GRCh38: 6:52026167-52026167
35 PKHD1 NM_138694.4(PKHD1):c.11310+3A>G SNV Uncertain significance 1030193 GRCh37: 6:51513880-51513880
GRCh38: 6:51649082-51649082
36 PKHD1 NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu) SNV Uncertain significance 1034261 GRCh37: 6:51611547-51611547
GRCh38: 6:51746749-51746749
37 PKHD1 NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) SNV Uncertain significance 291029 rs142896856 GRCh37: 6:51921513-51921513
GRCh38: 6:52056715-52056715
38 PKHD1 NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) SNV Uncertain significance 357445 rs200497761 GRCh37: 6:51918008-51918008
GRCh38: 6:52053210-52053210

Expression for Polycystic Kidney Disease 4

Search GEO for disease gene expression data for Polycystic Kidney Disease 4.

Pathways for Polycystic Kidney Disease 4

Pathways related to Polycystic Kidney Disease 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 TNNT2 ALB

GO Terms for Polycystic Kidney Disease 4

Sources for Polycystic Kidney Disease 4

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