RHPD1
MCID: RNL092
MIFTS: 30

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 56 73 71
Rhpd1 56 73
Rhpd 56 73
Dysplasia, Renal-Hepatic-Pancreatic, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death usually in the perinatal period


HPO:

31
renal-hepatic-pancreatic dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal-Hepatic-Pancreatic Dysplasia 1

UniProtKB/Swiss-Prot : 73 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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 31 occasional (7.5%) HP:0001305
2 ureteral atresia 31 occasional (7.5%) HP:0005999
3 hepatomegaly 31 HP:0002240
4 renal insufficiency 31 HP:0000083
5 patent ductus arteriosus 31 HP:0001643
6 cirrhosis 31 HP:0001394
7 hepatic fibrosis 31 HP:0001395
8 atrial septal defect 31 HP:0001631
9 biliary cirrhosis 31 HP:0002613
10 oligohydramnios 31 HP:0001562
11 polycystic kidney dysplasia 31 HP:0000113
12 pancreatic cysts 31 HP:0001737
13 hepatic cysts 31 HP:0001407
14 intestinal malrotation 31 HP:0002566
15 cholestasis 31 HP:0001396
16 pancreatic fibrosis 31 HP:0100732
17 asplenia 31 HP:0001746
18 enlarged kidney 31 HP:0000105
19 pulmonary hypoplasia 31 HP:0002089
20 aortic valve stenosis 31 HP:0001650
21 renal dysplasia 31 HP:0000110
22 polysplenia 31 HP:0001748
23 potter facies 31 HP:0002009
24 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
cirrhosis
hepatic fibrosis
hepatic cysts
cholestasis
more
Cardiovascular Heart:
atrial septal defect
aortic stenosis
situs abnormalities (in some patients)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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

Abdomen Pancreas:
pancreatic cysts
pancreatic fibrosis

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:

40
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. 6 56
20007846 2010
2
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 6 56
18371931 2008
3
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. 6 56
8874114 1996
4
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. 56
17593545 2007
5
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. 56
8733053 1996
6
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 56
3812591 1987
7
Renal dysplasia and asplenia in two sibs. 56
729198 1978
8
Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. 56
13626573 1959
9
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. 61
30734414 2019
10
cDNA cloning and characterization of PD1: a novel human testicular protein with different expressions in various testiculopathies. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3 NM_153240.5(NPHP3):c.3340C>T (p.Gln1114Ter)SNV Pathogenic 2638 rs119456964 3:132403628-132403628 3:132684784-132684784
2 NPHP3 NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln)SNV Pathogenic 2637 rs119456963 3:132407701-132407701 3:132688857-132688857
3 NPHP3 NM_153240.5(NPHP3):c.1985+5G>ASNV Pathogenic 2639 3:132418192-132418192 3:132699348-132699348
4 NPHP3 NM_153240.5(NPHP3):c.2694-2_2694-1deldeletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
5 NPHP3 NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)SNV Pathogenic/Likely pathogenic 216136 rs182135982 3:132418832-132418832 3:132699988-132699988
6 NPHP3 NM_153240.5(NPHP3):c.105G>A (p.Lys35=)SNV Conflicting interpretations of pathogenicity 193504 rs377060857 3:132441095-132441095 3:132722251-132722251
7 NPHP3 NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)SNV Conflicting interpretations of pathogenicity 167378 rs34391943 3:132403418-132403418 3:132684574-132684574
8 NPHP3 NM_153240.5(NPHP3):c.57G>C (p.Thr19=)SNV Conflicting interpretations of pathogenicity 167369 rs192633696 3:132441143-132441143 3:132722299-132722299
9 NPHP3 NM_153240.5(NPHP3):c.670+13C>TSNV Conflicting interpretations of pathogenicity 262716 rs202228115 3:132437825-132437825 3:132718981-132718981
10 NPHP3 NM_153240.5(NPHP3):c.189G>C (p.Gly63=)SNV Conflicting interpretations of pathogenicity 262694 rs750280281 3:132441011-132441011 3:132722167-132722167
11 NPHP3 NM_153240.5(NPHP3):c.408G>A (p.Thr136=)SNV Conflicting interpretations of pathogenicity 284322 rs141410951 3:132438660-132438660 3:132719816-132719816
12 NPHP3 NM_153240.5(NPHP3):c.1525-5deldeletion Conflicting interpretations of pathogenicity 284645 rs762115717 3:132420382-132420382 3:132701538-132701538
13 NPHP3 NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)SNV Conflicting interpretations of pathogenicity 289555 rs116174472 3:132408032-132408032 3:132689188-132689188
14 NPHP3 NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)SNV Uncertain significance 291105 rs202142404 3:132440967-132440967 3:132722123-132722123
15 NPHP3 NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)SNV Uncertain significance 291194 rs190548695 3:132400851-132400851 3:132682007-132682007
16 NPHP3 NM_153240.5(NPHP3):c.*1213T>CSNV Uncertain significance 343352 rs886057994 3:132399541-132399541 3:132680697-132680697
17 NPHP3 NM_153240.5(NPHP3):c.*1121A>GSNV Uncertain significance 343354 rs576904017 3:132399633-132399633 3:132680789-132680789
18 NPHP3 NM_153240.5(NPHP3):c.*784C>TSNV Uncertain significance 343360 rs376015619 3:132399970-132399970 3:132681126-132681126
19 NPHP3 NM_153240.5(NPHP3):c.*759G>ASNV Uncertain significance 343361 rs116338839 3:132399995-132399995 3:132681151-132681151
20 NPHP3 NM_153240.5(NPHP3):c.*652deldeletion Uncertain significance 343366 rs369921629 3:132400102-132400102 3:132681258-132681258
21 NPHP3 NM_153240.5(NPHP3):c.*46A>GSNV Uncertain significance 343373 rs530016526 3:132400708-132400708 3:132681864-132681864
22 NPHP3 NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)SNV Uncertain significance 343383 rs751790371 3:132408018-132408018 3:132689174-132689174
23 NPHP3 NM_153240.5(NPHP3):c.2571-12C>GSNV Uncertain significance 343384 rs886058003 3:132409506-132409506 3:132690662-132690662
24 NPHP3 NM_153240.5(NPHP3):c.2169G>A (p.Ala723=)SNV Uncertain significance 343385 rs563403703 3:132415577-132415577 3:132696733-132696733
25 NPHP3 NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)SNV Uncertain significance 343387 rs144731534 3:132418836-132418836 3:132699992-132699992
26 NPHP3 NM_153240.5(NPHP3):c.384C>G (p.Ala128=)SNV Uncertain significance 343391 rs201425936 3:132440816-132440816 3:132721972-132721972
27 NPHP3 NM_153240.5(NPHP3):c.*231A>TSNV Uncertain significance 343370 rs753577987 3:132400523-132400523 3:132681679-132681679
28 NPHP3 NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala)SNV Uncertain significance 343374 rs766281273 3:132400872-132400872 3:132682028-132682028
29 NPHP3 NM_153240.5(NPHP3):c.3570+4A>GSNV Uncertain significance 343375 rs374989123 3:132403394-132403394 3:132684550-132684550
30 NPHP3 NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg)SNV Uncertain significance 343376 rs772079066 3:132403405-132403405 3:132684561-132684561
31 NPHP3 NM_153240.5(NPHP3):c.3126-12dupduplication Uncertain significance 343378 rs398124547 3:132406074-132406074 3:132687230-132687230
32 NPHP3 NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=)SNV Uncertain significance 343379 rs372990521 3:132407610-132407610 3:132688766-132688766
33 NPHP3 NM_153240.5(NPHP3):c.2884-4C>GSNV Uncertain significance 343381 rs185913426 3:132407739-132407739 3:132688895-132688895
34 NPHP3 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
35 NPHP3 NM_153240.5(NPHP3):c.913A>G (p.Ile305Val)SNV Uncertain significance 343390 rs886058004 3:132433973-132433973 3:132715129-132715129
36 NPHP3 NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)SNV Uncertain significance 343393 rs886058005 3:132440940-132440940 3:132722096-132722096
37 NPHP3 NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys)SNV Uncertain significance 450392 rs146250226 3:132432006-132432006 3:132713162-132713162
38 NPHP3 NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)SNV Uncertain significance 497874 rs149565564 3:132433942-132433942 3:132715098-132715098
39 NPHP3 NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)SNV Uncertain significance 219480 rs146054765 3:132401596-132401596 3:132682752-132682752
40 NPHP3 NM_153240.5(NPHP3):c.*1098C>TSNV Uncertain significance 343355 rs886057995 3:132399656-132399656 3:132680812-132680812
41 NPHP3 NM_153240.5(NPHP3):c.*1176G>ASNV Uncertain significance 343353 rs183658380 3:132399578-132399578 3:132680734-132680734
42 NPHP3 NM_153240.5(NPHP3):c.*815G>ASNV Uncertain significance 343358 rs141464909 3:132399939-132399939 3:132681095-132681095
43 NPHP3 NM_153240.5(NPHP3):c.*519C>TSNV Uncertain significance 343368 rs3891704 3:132400235-132400235 3:132681391-132681391
44 NPHP3 NM_153240.5(NPHP3):c.65C>T (p.Ala22Val)SNV Uncertain significance 500896 rs369447363 3:132441135-132441135 3:132722291-132722291
45 NPHP3 NM_153240.4(NPHP3):c.-70C>TSNV Uncertain significance 343396 rs886058006 3:132441269-132441269 3:132722425-132722425
46 NPHP3 NM_153240.5(NPHP3):c.*139T>GSNV Uncertain significance 343371 rs886058001 3:132400615-132400615 3:132681771-132681771
47 NPHP3 NM_153240.5(NPHP3):c.*650_*651deldeletion Uncertain significance 343367 rs886058000 3:132400103-132400104 3:132681259-132681260
48 NPHP3 NM_153240.5(NPHP3):c.*652_*653deldeletion Uncertain significance 343365 rs886057999 3:132400101-132400102 3:132681257-132681258
49 NPHP3 NM_153240.5(NPHP3):c.*654dupduplication Uncertain significance 343364 rs886057998 3:132400100-132400100 3:132681256-132681256
50 NPHP3 NM_153240.5(NPHP3):c.*692C>TSNV Uncertain significance 343362 rs886057997 3:132400062-132400062 3:132681218-132681218

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
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53 NINDS
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56 OMIM
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63 QIAGEN
68 SNOMED-CT via HPO
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