RHPD1
MCID: RNL092
MIFTS: 33

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 73 29 6 71
Rhpd1 57 73
Rhpd 57 73
Dysplasia, Renal-Hepatic-Pancreatic, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 and renal-hepatic-pancreatic dysplasia 2. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia 1 is NPHP3 (Nephrocystin 3). Affiliated tissues include pancreas, kidney and lung, 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 29.2 NPHP3-AS1 NPHP3-ACAD11 NPHP3
2 renal-hepatic-pancreatic dysplasia 2 11.0
3 pulmonary hypertension, primary, 3 10.0
4 polycystic kidney disease 9.4 NPHP3-ACAD11 NPHP3
5 meckel syndrome, type 7 9.4 NPHP3-AS1 NPHP3-ACAD11 NPHP3
6 nephronophthisis 3 9.3 NPHP3-AS1 NPHP3-ACAD11 NPHP3
7 nephronophthisis 9.3 NPHP3-AS1 NPHP3-ACAD11 NPHP3
8 juvenile nephronophthisis 9.2 NPHP3-AS1 NPHP3-ACAD11 NPHP3

Graphical network of the top 20 diseases related to Renal-Hepatic-Pancreatic Dysplasia 1:



Diseases related to Renal-Hepatic-Pancreatic Dysplasia 1

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 hepatic fibrosis 31 HP:0001395
6 atrial septal defect 31 HP:0001631
7 cirrhosis 31 HP:0001394
8 biliary cirrhosis 31 HP:0002613
9 patent ductus arteriosus 31 HP:0001643
10 polycystic kidney dysplasia 31 HP:0000113
11 intestinal malrotation 31 HP:0002566
12 enlarged kidney 31 HP:0000105
13 cholestasis 31 HP:0001396
14 oligohydramnios 31 HP:0001562
15 pancreatic cysts 31 HP:0001737
16 asplenia 31 HP:0001746
17 pancreatic fibrosis 31 HP:0100732
18 pulmonary hypoplasia 31 HP:0002089
19 aortic valve stenosis 31 HP:0001650
20 polysplenia 31 HP:0001748
21 renal dysplasia 31 HP:0000110
22 hepatic cysts 31 HP:0001407
23 potter facies 31 HP:0002009
24 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Liver:
hepatomegaly
hepatic fibrosis
cirrhosis
cholestasis
hepatic cysts
more
Abdomen Biliary Tract:
biliary cirrhosis
dysplastic bile ducts
hyperplastic biliary ducts
dilated, enlarged bile ducts

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 Heart:
atrial septal defect
aortic stenosis
situs abnormalities (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus

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 (Updated 05-Mar-2021)

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

Genetic tests related to Renal-Hepatic-Pancreatic Dysplasia 1:

# Genetic test Affiliating Genes
1 Renal-Hepatic-Pancreatic Dysplasia 1 29 NPHP3

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia 1

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

40
Pancreas, Kidney, Lung, Liver

Publications for Renal-Hepatic-Pancreatic Dysplasia 1

Articles related to Renal-Hepatic-Pancreatic Dysplasia 1:

(show all 11)
# Title Authors PMID Year
1
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 6 57
20007846 2010
2
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 6 57
18371931 2008
3
Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. 6 57
8874114 1996
4
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. 57
17593545 2007
5
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. 57
8733053 1996
6
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. 57
3812591 1987
7
Renal dysplasia and asplenia in two sibs. 57
729198 1978
8
Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. 57
13626573 1959
9
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 61
32341812 2020
10
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis. 61
30734414 2019
11
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 111)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln) SNV Pathogenic 2637 rs119456963 3:132407701-132407701 3:132688857-132688857
2 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3340C>T (p.Gln1114Ter) SNV Pathogenic 2638 rs119456964 3:132403628-132403628 3:132684784-132684784
3 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1985+5G>A SNV Pathogenic 2639 rs754508002 3:132418192-132418192 3:132699348-132699348
4 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) SNV Pathogenic 216136 rs182135982 3:132418832-132418832 3:132699988-132699988
5 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2694-2_2694-1del Deletion Pathogenic 220868 rs751527253 3:132408108-132408109 3:132689264-132689265
6 NPHP3-AS1 NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) SNV Conflicting interpretations of pathogenicity 96509 rs145643112 3:132441046-132441046 3:132722202-132722202
7 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) SNV Uncertain significance 167379 rs141477666 3:132427031-132427031 3:132708187-132708187
8 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*852C>A SNV Uncertain significance 902587 3:132399902-132399902 3:132681058-132681058
9 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3697-7T>A SNV Uncertain significance 902644 3:132401669-132401669 3:132682825-132682825
10 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) SNV Uncertain significance 291053 rs368126549 3:132420369-132420369 3:132701525-132701525
11 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1524+11G>T SNV Uncertain significance 902831 3:132423031-132423031 3:132704187-132704187
12 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1188A>G SNV Uncertain significance 903378 3:132399566-132399566 3:132680722-132680722
13 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1184A>T SNV Uncertain significance 903379 3:132399570-132399570 3:132680726-132680726
14 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*178T>G SNV Uncertain significance 903615 3:132400576-132400576 3:132681732-132681732
15 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*141T>C SNV Uncertain significance 903616 3:132400613-132400613 3:132681769-132681769
16 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) SNV Uncertain significance 343383 rs751790371 3:132408018-132408018 3:132689174-132689174
17 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*650_*651del Deletion Uncertain significance 343367 rs886058000 3:132400103-132400104 3:132681259-132681260
18 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1121A>G SNV Uncertain significance 343354 rs576904017 3:132399633-132399633 3:132680789-132680789
19 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) SNV Uncertain significance 343377 rs886058002 3:132405219-132405219 3:132686375-132686375
20 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2884-4C>G SNV Uncertain significance 343381 rs185913426 3:132407739-132407739 3:132688895-132688895
21 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) SNV Uncertain significance 901375 3:132418796-132418796 3:132699952-132699952
22 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1118+11A>C SNV Uncertain significance 901430 3:132431959-132431959 3:132713115-132713115
23 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*437C>T SNV Uncertain significance 900990 3:132400317-132400317 3:132681473-132681473
24 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*351A>T SNV Uncertain significance 901547 3:132400403-132400403 3:132681559-132681559
25 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) SNV Uncertain significance 195996 rs143451766 3:132401603-132401603 3:132682759-132682759
26 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) SNV Uncertain significance 262709 rs146759786 3:132401642-132401642 3:132682798-132682798
27 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) SNV Uncertain significance 531625 rs150867534 3:132407633-132407633 3:132688789-132688789
28 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) SNV Uncertain significance 846397 3:132418872-132418872 3:132700028-132700028
29 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) SNV Uncertain significance 901926 3:132418892-132418892 3:132700048-132700048
30 NPHP3-ACAD11 NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) SNV Uncertain significance 901991 3:132438568-132438568 3:132719724-132719724
31 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) SNV Uncertain significance 291194 rs190548695 3:132400851-132400851 3:132682007-132682007
32 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
33 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) SNV Uncertain significance 450392 rs146250226 3:132432006-132432006 3:132713162-132713162
34 NPHP3-ACAD11 NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) SNV Uncertain significance 497874 rs149565564 3:132433942-132433942 3:132715098-132715098
35 NPHP3-AS1 NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) SNV Uncertain significance 500896 rs369447363 3:132441135-132441135 3:132722291-132722291
36 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) SNV Uncertain significance 592218 rs371505908 3:132403464-132403464 3:132684620-132684620
37 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) SNV Uncertain significance 900219 3:132418206-132418206 3:132699362-132699362
38 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) SNV Uncertain significance 900220 3:132418291-132418291 3:132699447-132699447
39 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*1094A>G SNV Uncertain significance 900923 3:132399660-132399660 3:132680816-132680816
40 NPHP3-ACAD11 NM_153240.5(NPHP3):c.*626C>G SNV Uncertain significance 900989 3:132400128-132400128 3:132681284-132681284
41 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) SNV Uncertain significance 901257 3:132405147-132405147 3:132686303-132686303
42 NPHP3-ACAD11 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) SNV Uncertain significance 195784 rs146890274 3:132405152-132405152 3:132686308-132686308
43 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) SNV Uncertain significance 286705 rs140594430 3:132408049-132408049 3:132689205-132689205
44 NPHP3-AS1 NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) SNV Uncertain significance 343393 rs886058005 3:132440940-132440940 3:132722096-132722096
45 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) SNV Uncertain significance 343382 rs144989330 3:132407920-132407920 3:132689076-132689076
46 NPHP3-ACAD11 NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) SNV Uncertain significance 343385 rs563403703 3:132415577-132415577 3:132696733-132696733
47 NPHP3-AS1 NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) SNV Uncertain significance 291105 rs202142404 3:132440967-132440967 3:132722123-132722123
48 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1525-5del Deletion Uncertain significance 284645 rs762115717 3:132420382-132420382 3:132701538-132701538
49 NPHP3-AS1 NM_153240.5(NPHP3):c.384C>G (p.Ala128=) SNV Uncertain significance 343391 rs201425936 3:132440816-132440816 3:132721972-132721972
50 NPHP3-ACAD11 NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) SNV Uncertain significance 343388 rs576089202 3:132420337-132420337 3:132701493-132701493

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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