RHPD1
MCID: RNL092
MIFTS: 28

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 57 74 72
Rhpd1 57 74
Rhpd 57 74
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:



External Ids:

MeSH 44 D000015
UMLS 72 C3715199

Summaries for Renal-Hepatic-Pancreatic Dysplasia 1

UniProtKB/Swiss-Prot : 74 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 and pulmonary hypertension, primary, 3. 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 dandy-walker malformation and ureteral atresia

More information from OMIM: 208540 PS208540

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 11.3
2 pulmonary hypertension, primary, 3 10.3

Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia 1

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

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
cirrhosis
hepatic fibrosis
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:

41
Kidney, Liver, Pancreas, Lung

Publications for Renal-Hepatic-Pancreatic Dysplasia 1

Articles related to Renal-Hepatic-Pancreatic Dysplasia 1:

# Title Authors PMID Year
1
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 8 71
20007846 2010
2
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 8 71
18371931 2008
3
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. 8 71
8874114 1996
4
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. 8
17593545 2007
5
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. 8
8733053 1996
6
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 8
3812591 1987
7
Renal dysplasia and asplenia in two sibs. 8
729198 1978
8
Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. 8
13626573 1959
9
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. 38
30734414 2019
10
cDNA cloning and characterization of PD1: a novel human testicular protein with different expressions in various testiculopathies. 38
10222154 1999

Variations for Renal-Hepatic-Pancreatic Dysplasia 1

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

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3 NM_153240.5(NPHP3): c.1985+5G> A single nucleotide variant Pathogenic 3:132418192-132418192 3:132699348-132699348
2 NPHP3 NM_153240.5(NPHP3): c.2918G> A (p.Arg973Gln) single nucleotide variant Pathogenic rs119456963 3:132407701-132407701 3:132688857-132688857
3 NPHP3 NM_153240.5(NPHP3): c.3340C> T (p.Gln1114Ter) single nucleotide variant Pathogenic rs119456964 3:132403628-132403628 3:132684784-132684784
4 NPHP3 NM_153240.5(NPHP3): c.2694-2_2694-1del deletion Pathogenic rs751527253 3:132408108-132408109 3:132689264-132689265
5 NPHP3 NM_153240.5(NPHP3): c.1817G> A (p.Trp606Ter) single nucleotide variant Pathogenic/Likely pathogenic rs182135982 3:132418832-132418832 3:132699988-132699988
6 NPHP3 NM_153240.5(NPHP3): c.57G> C (p.Thr19=) single nucleotide variant Conflicting interpretations of pathogenicity rs192633696 3:132441143-132441143 3:132722299-132722299
7 NPHP3 NM_153240.5(NPHP3): c.670+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202228115 3:132437825-132437825 3:132718981-132718981
8 NPHP3 NM_153240.5(NPHP3): c.189G> C (p.Gly63=) single nucleotide variant Conflicting interpretations of pathogenicity rs750280281 3:132441011-132441011 3:132722167-132722167
9 NPHP3 NM_153240.5(NPHP3): c.105G> A (p.Lys35=) single nucleotide variant Conflicting interpretations of pathogenicity rs377060857 3:132441095-132441095 3:132722251-132722251
10 NPHP3 NM_153240.5(NPHP3): c.2769C> T (p.Phe923=) single nucleotide variant Conflicting interpretations of pathogenicity rs116174472 3:132408032-132408032 3:132689188-132689188
11 NPHP3 NM_153240.4(NPHP3): c.1525-5delT deletion Conflicting interpretations of pathogenicity rs762115717 3:132420382-132420382 3:132701538-132701538
12 NPHP3 NM_153240.5(NPHP3): c.408G> A (p.Thr136=) single nucleotide variant Conflicting interpretations of pathogenicity rs141410951 3:132438660-132438660 3:132719816-132719816
13 NPHP3 NM_153240.5(NPHP3): c.3550G> A (p.Ala1184Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34391943 3:132403418-132403418 3:132684574-132684574
14 NPHP3 NM_153240.5(NPHP3): c.3763C> T (p.Arg1255Trp) single nucleotide variant Uncertain significance rs146054765 3:132401596-132401596 3:132682752-132682752
15 NPHP3 NM_153240.5(NPHP3): c.*231A> T single nucleotide variant Uncertain significance rs753577987 3:132400523-132400523 3:132681679-132681679
16 NPHP3 NM_153240.5(NPHP3): c.3875A> C (p.Glu1292Ala) single nucleotide variant Uncertain significance rs766281273 3:132400872-132400872 3:132682028-132682028
17 NPHP3 NM_153240.5(NPHP3): c.3570+4A> G single nucleotide variant Uncertain significance rs374989123 3:132403394-132403394 3:132684550-132684550
18 NPHP3 NM_153240.5(NPHP3): c.3563A> G (p.Lys1188Arg) single nucleotide variant Uncertain significance rs772079066 3:132403405-132403405 3:132684561-132684561
19 NPHP3 NM_153240.4(NPHP3): c.3126-4dupT duplication Uncertain significance rs398124547 3:132406074-132406074 3:132687230-132687230
20 NPHP3 NM_153240.5(NPHP3): c.3009T> C (p.Asn1003=) single nucleotide variant Uncertain significance rs372990521 3:132407610-132407610 3:132688766-132688766
21 NPHP3 NM_153240.5(NPHP3): c.2884-4C> G single nucleotide variant Uncertain significance rs185913426 3:132407739-132407739 3:132688895-132688895
22 NPHP3 NM_153240.5(NPHP3): c.65C> T (p.Ala22Val) single nucleotide variant Uncertain significance rs369447363 3:132441135-132441135 3:132722291-132722291
23 NPHP3 NM_153240.5(NPHP3): c.260C> G (p.Ala87Gly) single nucleotide variant Uncertain significance rs886058005 3:132440940-132440940 3:132722096-132722096
24 NPHP3 NM_153240.5(NPHP3): c.913A> G (p.Ile305Val) single nucleotide variant Uncertain significance rs886058004 3:132433973-132433973 3:132715129-132715129
25 NPHP3 NM_153240.5(NPHP3): c.2881C> G (p.Gln961Glu) single nucleotide variant Uncertain significance rs144989330 3:132407920-132407920 3:132689076-132689076
26 NPHP3 NM_153240.4(NPHP3): c.-70C> T single nucleotide variant Uncertain significance rs886058006 3:132441269-132441269 3:132722425-132722425
27 NPHP3 NM_153240.5(NPHP3): c.*139T> G single nucleotide variant Uncertain significance rs886058001 3:132400615-132400615 3:132681771-132681771
28 NPHP3 NM_153240.5(NPHP3): c.*650_*651del deletion Uncertain significance rs886058000 3:132400103-132400104 3:132681259-132681260
29 NPHP3 NM_153240.5(NPHP3): c.*652_*653del deletion Uncertain significance rs886057999 3:132400101-132400102 3:132681257-132681258
30 NPHP3 NM_153240.5(NPHP3): c.*654dup duplication Uncertain significance rs886057998 3:132400100-132400100 3:132681256-132681256
31 NPHP3 NM_153240.5(NPHP3): c.*692C> T single nucleotide variant Uncertain significance rs886057997 3:132400062-132400062 3:132681218-132681218
32 NPHP3 NM_153240.5(NPHP3): c.*1098C> T single nucleotide variant Uncertain significance rs886057995 3:132399656-132399656 3:132680812-132680812
33 NPHP3 NM_153240.5(NPHP3): c.*1020T> C single nucleotide variant Uncertain significance rs186828918 3:132399734-132399734 3:132680890-132680890
34 NPHP3 NM_153240.5(NPHP3): c.*1078T> G single nucleotide variant Uncertain significance rs886057996 3:132399676-132399676 3:132680832-132680832
35 NPHP3 NM_153240.5(NPHP3): c.233G> T (p.Gly78Val) single nucleotide variant Uncertain significance rs202142404 3:132440967-132440967 3:132722123-132722123
36 NPHP3 NM_153240.5(NPHP3): c.3896G> A (p.Gly1299Asp) single nucleotide variant Uncertain significance rs190548695 3:132400851-132400851 3:132682007-132682007
37 NPHP3 NM_153240.5(NPHP3): c.*1213T> C single nucleotide variant Uncertain significance rs886057994 3:132399541-132399541 3:132680697-132680697
38 NPHP3 NM_153240.5(NPHP3): c.*1121A> G single nucleotide variant Uncertain significance rs576904017 3:132399633-132399633 3:132680789-132680789
39 NPHP3 NM_153240.5(NPHP3): c.*784C> T single nucleotide variant Uncertain significance rs376015619 3:132399970-132399970 3:132681126-132681126
40 NPHP3 NM_153240.5(NPHP3): c.*759G> A single nucleotide variant Uncertain significance rs116338839 3:132399995-132399995 3:132681151-132681151
41 NPHP3 NM_153240.5(NPHP3): c.*652del deletion Uncertain significance rs369921629 3:132400102-132400102 3:132681258-132681258
42 NPHP3 NM_153240.5(NPHP3): c.*46A> G single nucleotide variant Uncertain significance rs530016526 3:132400708-132400708 3:132681864-132681864
43 NPHP3 NM_153240.5(NPHP3): c.2783A> G (p.Gln928Arg) single nucleotide variant Uncertain significance rs751790371 3:132408018-132408018 3:132689174-132689174
44 NPHP3 NM_153240.5(NPHP3): c.2571-12C> G single nucleotide variant Uncertain significance rs886058003 3:132409506-132409506 3:132690662-132690662
45 NPHP3 NM_153240.5(NPHP3): c.2169G> A (p.Ala723=) single nucleotide variant Uncertain significance rs563403703 3:132415577-132415577 3:132696733-132696733
46 NPHP3 NM_153240.5(NPHP3): c.1813C> T (p.Arg605Cys) single nucleotide variant Uncertain significance rs144731534 3:132418836-132418836 3:132699992-132699992
47 NPHP3 NM_153240.5(NPHP3): c.384C> G (p.Ala128=) single nucleotide variant Uncertain significance rs201425936 3:132440816-132440816 3:132721972-132721972
48 NPHP3 NM_153240.5(NPHP3): c.1082C> G (p.Ser361Cys) single nucleotide variant Uncertain significance rs146250226 3:132432006-132432006 3:132713162-132713162
49 NPHP3 NM_153240.5(NPHP3): c.944A> T (p.Asp315Val) single nucleotide variant Uncertain significance rs149565564 3:132433942-132433942 3:132715098-132715098
50 NPHP3 NM_153240.5(NPHP3): c.*121_*123del deletion Uncertain significance rs371974858 3:132400631-132400633 3:132681787-132681789

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

74
# Symbol AA change Variation ID SNP ID
1 NPHP3 p.Arg973Gln VAR_044121 rs119456963

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
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
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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