RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: RHPD
RHPD1
Number of Symptoms 32
OrphanetNr:
OMIM Id: 208540
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005563) Decreased numbers of nephrons 3 / 7739
2
(HPO:0000107) Renal cyst 126 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0000105) Enlarged kidneys 30 / 7739
5
(HPO:0000110) Renal dysplasia 44 / 7739
6
(HPO:0005999) Ureteral atresia 5 / 7739
7
(HPO:0002009) Potter facies 8 / 7739
8
(HPO:0001305) Dandy-Walker malformation 79 / 7739
9
(HPO:0001562) Oligohydramnios 75 / 7739
10
(HPO:0001748) Polysplenia 14 / 7739
11
(HPO:0002240) Hepatomegaly 467 / 7739
12
(HPO:0001737) Pancreatic cysts 15 / 7739
13
(HPO:0002613) Biliary cirrhosis 11 / 7739
14
(HPO:0001394) Cirrhosis 102 / 7739
15
(HPO:0001407) Hepatic cysts 9 / 7739
16
(HPO:0001746) Asplenia 19 / 7739
17
(HPO:0001396) Cholestasis 136 / 7739
18
(HPO:0001395) Hepatic fibrosis 67 / 7739
19
(HPO:0100732) Pancreatic fibrosis 12 / 7739
20
(HPO:0001650) Aortic valve stenosis 49 / 7739
21
(HPO:0001643) Patent ductus arteriosus 228 / 7739
22
(HPO:0001631) Atria septal defect 274 / 7739
23
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
24
(OMIM) Deficient nephron differentiation 1 / 7739
25
(OMIM) Dysplastic bile ducts 1 / 7739
26
(OMIM) Malrotation of the gut 2 / 7739
27
(OMIM) Situs abnormalities (in some patients) 1 / 7739
28
(OMIM) Glomerular cysts 2 / 7739
29
(OMIM) Hyperplastic biliary ducts 1 / 7739
30
(OMIM) Dilated, enlarged bile ducts 1 / 7739
31
(OMIM) Ductal plate malformation 5 / 7739
32
(MedDRA:10061445) Cerebral cyst 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ivemark et al. (1959) reported 2 sibs with renal-hepatic-pancreatic dysplasia. Crawfurd (1978) described a brother and sister who both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second infant showed gross renal ...
Molecular genetics OMIM In the Swiss brothers reported by Neuhaus et al. (1996), Bergmann et al. (2008) identified compound heterozygosity for 2 mutations in the NPHP3 gene (608002.0006; 608002.0007). One sib was alive at age 17 years and had normal neurologic ...