RHPD1
MCID: RNL092
MIFTS: 23

Renal-Hepatic-Pancreatic Dysplasia 1 (RHPD1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia 1

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia 1:

Name: Renal-Hepatic-Pancreatic Dysplasia 1 58 76 74
Rhpd1 58 76
Rhpd 58 76
Dysplasia, Renal-Hepatic-Pancreatic, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death usually in the perinatal period


HPO:

33
renal-hepatic-pancreatic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal-Hepatic-Pancreatic Dysplasia 1

UniProtKB/Swiss-Prot : 76 Renal-hepatic-pancreatic dysplasia 1: A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.

MalaCards based summary : Renal-Hepatic-Pancreatic Dysplasia 1, also known as rhpd1, is related to renal-hepatic-pancreatic dysplasia 2. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia 1 is NPHP3 (Nephrocystin 3). Affiliated tissues include kidney and pancreas, and related phenotypes are dandy-walker malformation and ureteral atresia

Description from OMIM: 208540

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia 1

Diseases in the Renal-Hepatic-Pancreatic Dysplasia family:

Renal-Hepatic-Pancreatic Dysplasia 1 Renal-Hepatic-Pancreatic Dysplasia 2

Diseases related to Renal-Hepatic-Pancreatic Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal-hepatic-pancreatic dysplasia 2 11.2

Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia 1

Human phenotypes related to Renal-Hepatic-Pancreatic Dysplasia 1:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 33 occasional (7.5%) HP:0001305
2 ureteral atresia 33 occasional (7.5%) HP:0005999
3 hepatomegaly 33 HP:0002240
4 renal insufficiency 33 HP:0000083
5 patent ductus arteriosus 33 HP:0001643
6 hepatic fibrosis 33 HP:0001395
7 atrial septal defect 33 HP:0001631
8 cirrhosis 33 HP:0001394
9 biliary cirrhosis 33 HP:0002613
10 polycystic kidney dysplasia 33 HP:0000113
11 pancreatic cysts 33 HP:0001737
12 hepatic cysts 33 HP:0001407
13 intestinal malrotation 33 HP:0002566
14 cholestasis 33 HP:0001396
15 oligohydramnios 33 HP:0001562
16 pancreatic fibrosis 33 HP:0100732
17 asplenia 33 HP:0001746
18 enlarged kidney 33 HP:0000105
19 pulmonary hypoplasia 33 HP:0002089
20 aortic valve stenosis 33 HP:0001650
21 polysplenia 33 HP:0001748
22 renal dysplasia 33 HP:0000110
23 potter facies 33 HP:0002009
24 bile duct proliferation 33 HP:0001408

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatomegaly
hepatic fibrosis
cirrhosis
hepatic cysts
cholestasis
more
Cardiovascular Heart:
atrial septal defect
aortic stenosis
situs abnormalities (in some patients)

Abdomen Pancreas:
pancreatic cysts
pancreatic fibrosis

Abdomen Spleen:
asplenia
polysplenia

Head And Neck Face:
potter facies

Abdomen:
situs abnormalities (in some patients)

Abdomen Gastrointestinal:
malrotation of the gut

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Biliary Tract:
biliary cirrhosis
dysplastic bile ducts
hyperplastic biliary ducts
dilated, enlarged bile ducts

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
renal dysplasia
renal cysts
renal failure
glomerular cysts
enlarged kidneys
more
Neurologic Central Nervous System:
cerebral cysts
dandy-walker malformation (variable)

Respiratory Lung:
lung hypoplasia (secondary to oligohydramnios)

Genitourinary Ureters:
ureteral atresia (reported in 1 patient)

Clinical features from OMIM:

208540

Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Renal-Hepatic-Pancreatic Dysplasia 1

Genetic Tests for Renal-Hepatic-Pancreatic Dysplasia 1

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia 1

MalaCards organs/tissues related to Renal-Hepatic-Pancreatic Dysplasia 1:

42
Kidney, Pancreas

Publications for Renal-Hepatic-Pancreatic Dysplasia 1

Articles related to Renal-Hepatic-Pancreatic Dysplasia 1:

# Title Authors Year
1
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. ( 30734414 )
2019

Variations for Renal-Hepatic-Pancreatic Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia 1:

76
# Symbol AA change Variation ID SNP ID
1 NPHP3 p.Arg973Gln VAR_044121 rs119456963

ClinVar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia 1:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh37 Chromosome 3, 132403418: 132403418
2 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh38 Chromosome 3, 132684574: 132684574
3 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh37 Chromosome 3, 132441143: 132441143
4 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh38 Chromosome 3, 132722299: 132722299
5 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh37 Chromosome 3, 132438618: 132438618
6 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh38 Chromosome 3, 132719774: 132719774
7 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh37 Chromosome 3, 132441095: 132441095
8 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh38 Chromosome 3, 132722251: 132722251
9 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
10 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh38 Chromosome 3, 132722083: 132722083
11 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh37 Chromosome 3, 132434022: 132434022
12 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh38 Chromosome 3, 132715178: 132715178
13 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh37 Chromosome 3, 132400834: 132400834
14 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh38 Chromosome 3, 132681990: 132681990
15 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh38 Chromosome 3, 132682752: 132682752
16 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh37 Chromosome 3, 132401596: 132401596
17 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
18 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh37 Chromosome 3, 132408108: 132408109
19 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh37 Chromosome 3, 132419192: 132419192
20 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh38 Chromosome 3, 132700348: 132700348
21 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh37 Chromosome 3, 132407701: 132407701
22 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh38 Chromosome 3, 132688857: 132688857
23 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh37 Chromosome 3, 132403628: 132403628
24 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh38 Chromosome 3, 132684784: 132684784
25 NPHP3 NM_153240.4(NPHP3): c.1985+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 132699348: 132699348
26 NPHP3 NM_153240.4(NPHP3): c.1985+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 132418192: 132418192
27 NPHP3 NM_153240.4(NPHP3): c.1986G> A (p.Arg662=) single nucleotide variant Benign/Likely benign rs77533254 GRCh37 Chromosome 3, 132416206: 132416206
28 NPHP3 NM_153240.4(NPHP3): c.1986G> A (p.Arg662=) single nucleotide variant Benign/Likely benign rs77533254 GRCh38 Chromosome 3, 132697362: 132697362
29 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh37 Chromosome 3, 132411604: 132411604
30 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh38 Chromosome 3, 132692760: 132692760
31 NPHP3 NM_153240.4(NPHP3): c.2571-7T> C single nucleotide variant Benign/Likely benign rs62292468 GRCh37 Chromosome 3, 132409501: 132409501
32 NPHP3 NM_153240.4(NPHP3): c.2571-7T> C single nucleotide variant Benign/Likely benign rs62292468 GRCh38 Chromosome 3, 132690657: 132690657
33 NPHP3 NM_153240.4(NPHP3): c.2610G> A (p.Pro870=) single nucleotide variant Benign/Likely benign rs16839515 GRCh37 Chromosome 3, 132409455: 132409455
34 NPHP3 NM_153240.4(NPHP3): c.2610G> A (p.Pro870=) single nucleotide variant Benign/Likely benign rs16839515 GRCh38 Chromosome 3, 132690611: 132690611
35 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
36 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh38 Chromosome 3, 132684751: 132684751
37 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh37 Chromosome 3, 132401600: 132401600
38 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh38 Chromosome 3, 132682756: 132682756
39 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh37 Chromosome 3, 132407482: 132407482
40 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh38 Chromosome 3, 132688638: 132688638
41 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202228115 GRCh38 Chromosome 3, 132718981: 132718981
42 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202228115 GRCh37 Chromosome 3, 132437825: 132437825
43 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Conflicting interpretations of pathogenicity rs750280281 GRCh37 Chromosome 3, 132441011: 132441011
44 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Conflicting interpretations of pathogenicity rs750280281 GRCh38 Chromosome 3, 132722167: 132722167
45 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh37 Chromosome 3, 132438660: 132438660
46 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh38 Chromosome 3, 132719816: 132719816
47 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs762115717 GRCh37 Chromosome 3, 132420382: 132420382
48 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs762115717 GRCh38 Chromosome 3, 132701538: 132701538
49 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh37 Chromosome 3, 132408032: 132408032
50 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh38 Chromosome 3, 132689188: 132689188

Expression for Renal-Hepatic-Pancreatic Dysplasia 1

Search GEO for disease gene expression data for Renal-Hepatic-Pancreatic Dysplasia 1.

Pathways for Renal-Hepatic-Pancreatic Dysplasia 1

GO Terms for Renal-Hepatic-Pancreatic Dysplasia 1

Sources for Renal-Hepatic-Pancreatic Dysplasia 1

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....