MCID: RNL092
MIFTS: 23

Renal-Hepatic-Pancreatic Dysplasia 1

Categories: Genetic diseases, Nephrological diseases, Endocrine diseases, Liver diseases, Fetal 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 57 75 73
Rhpd1 57 75
Rhpd 57 75
Dysplasia, Renal-Hepatic-Pancreatic, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death usually in the perinatal period


HPO:

32
renal-hepatic-pancreatic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal-Hepatic-Pancreatic Dysplasia 1

UniProtKB/Swiss-Prot : 75 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, liver and pancreas, and related phenotypes are hepatomegaly and renal insufficiency

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 11.0

Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 renal insufficiency 32 HP:0000083
3 patent ductus arteriosus 32 HP:0001643
4 hepatic fibrosis 32 HP:0001395
5 atrial septal defect 32 HP:0001631
6 cirrhosis 32 HP:0001394
7 biliary cirrhosis 32 HP:0002613
8 polycystic kidney dysplasia 32 HP:0000113
9 pancreatic cysts 32 HP:0001737
10 hepatic cysts 32 HP:0001407
11 intestinal malrotation 32 HP:0002566
12 cholestasis 32 HP:0001396
13 oligohydramnios 32 HP:0001562
14 pancreatic fibrosis 32 HP:0100732
15 dandy-walker malformation 32 occasional (7.5%) HP:0001305
16 asplenia 32 HP:0001746
17 enlarged kidney 32 HP:0000105
18 aortic valve stenosis 32 HP:0001650
19 pulmonary hypoplasia 32 HP:0002089
20 polysplenia 32 HP:0001748
21 renal dysplasia 32 HP:0000110
22 ureteral atresia 32 occasional (7.5%) HP:0005999
23 potter facies 32 HP:0002009
24 bile duct proliferation 32 HP:0001408

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:

41
Kidney, Liver, Pancreas, Lung

Publications for Renal-Hepatic-Pancreatic Dysplasia 1

Variations for Renal-Hepatic-Pancreatic Dysplasia 1

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

75
# 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 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh37 Chromosome 3, 132419192: 132419192
2 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh38 Chromosome 3, 132700348: 132700348
3 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh37 Chromosome 3, 132407701: 132407701
4 NPHP3 NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 GRCh38 Chromosome 3, 132688857: 132688857
5 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh37 Chromosome 3, 132403628: 132403628
6 NPHP3 NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 GRCh38 Chromosome 3, 132684784: 132684784
7 NPHP3 NPHP3, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
8 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh37 Chromosome 3, 132411604: 132411604
9 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh38 Chromosome 3, 132692760: 132692760
10 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
11 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh38 Chromosome 3, 132684751: 132684751
12 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh37 Chromosome 3, 132403418: 132403418
13 NPHP3 NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 GRCh38 Chromosome 3, 132684574: 132684574
14 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh37 Chromosome 3, 132441143: 132441143
15 NPHP3 NM_153240.4(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 GRCh38 Chromosome 3, 132722299: 132722299
16 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh37 Chromosome 3, 132438618: 132438618
17 NPHP3 NM_153240.4(NPHP3): c.450G> A (p.Ala150=) single nucleotide variant Benign/Likely benign rs78527322 GRCh38 Chromosome 3, 132719774: 132719774
18 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh37 Chromosome 3, 132441095: 132441095
19 NPHP3 NM_153240.4(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 GRCh38 Chromosome 3, 132722251: 132722251
20 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
21 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh38 Chromosome 3, 132722083: 132722083
22 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh37 Chromosome 3, 132438631: 132438634
23 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh38 Chromosome 3, 132719787: 132719790
24 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh37 Chromosome 3, 132434022: 132434022
25 NPHP3 NM_153240.4(NPHP3): c.864T> A (p.Thr288=) single nucleotide variant Benign/Likely benign rs147932449 GRCh38 Chromosome 3, 132715178: 132715178
26 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh37 Chromosome 3, 132400834: 132400834
27 NPHP3 NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys) single nucleotide variant Benign/Likely benign rs35485382 GRCh38 Chromosome 3, 132681990: 132681990
28 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh38 Chromosome 3, 132682752: 132682752
29 NPHP3 NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 GRCh37 Chromosome 3, 132401596: 132401596
30 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
31 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh37 Chromosome 3, 132408108: 132408109
32 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh37 Chromosome 3, 132401600: 132401600
33 NPHP3 NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=) single nucleotide variant Benign rs6794496 GRCh38 Chromosome 3, 132682756: 132682756
34 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh37 Chromosome 3, 132407482: 132407482
35 NPHP3 NM_153240.4(NPHP3): c.3125+12dupT duplication Benign rs11396595 GRCh38 Chromosome 3, 132688638: 132688638
36 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Uncertain significance rs202228115 GRCh38 Chromosome 3, 132718981: 132718981
37 NPHP3 NM_153240.4(NPHP3): c.670+13C> T single nucleotide variant Uncertain significance rs202228115 GRCh37 Chromosome 3, 132437825: 132437825
38 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Uncertain significance rs750280281 GRCh37 Chromosome 3, 132441011: 132441011
39 NPHP3 NM_153240.4(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Uncertain significance rs750280281 GRCh38 Chromosome 3, 132722167: 132722167
40 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh37 Chromosome 3, 132438660: 132438660
41 NPHP3 NM_153240.4(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 GRCh38 Chromosome 3, 132719816: 132719816
42 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs769466015 GRCh37 Chromosome 3, 132420382: 132420382
43 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs769466015 GRCh38 Chromosome 3, 132701538: 132701538
44 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh37 Chromosome 3, 132408032: 132408032
45 NPHP3 NM_153240.4(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 GRCh38 Chromosome 3, 132689188: 132689188
46 NPHP3 NM_153240.4(NPHP3): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs202142404 GRCh37 Chromosome 3, 132440967: 132440967
47 NPHP3 NM_153240.4(NPHP3): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs202142404 GRCh38 Chromosome 3, 132722123: 132722123
48 NPHP3 NM_153240.4(NPHP3): c.*1213T> C single nucleotide variant Uncertain significance rs886057994 GRCh38 Chromosome 3, 132680697: 132680697
49 NPHP3 NM_153240.4(NPHP3): c.*1213T> C single nucleotide variant Uncertain significance rs886057994 GRCh37 Chromosome 3, 132399541: 132399541
50 NPHP3 NM_153240.4(NPHP3): c.*1121A> G single nucleotide variant Uncertain significance rs576904017 GRCh38 Chromosome 3, 132680789: 132680789

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

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