RENAL-HEPATIC-PANCREATIC DYSPLASIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: RHPD2
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615415
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000105) Enlarged kidneys 30 / 7739
2
(HPO:0000800) Cystic renal dysplasia 31 / 7739
3
(HPO:0001762) Talipes equinovarus 309 / 7739
4
(HPO:0002980) Femoral bowing 36 / 7739
5
(HPO:0001562) Oligohydramnios 75 / 7739
6
(HPO:0001746) Asplenia rare [HPO:skoehler] 19 / 7739
7
(HPO:0001395) Hepatic fibrosis 67 / 7739
8
(HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 44 / 7739
9
(HPO:0001660) Truncus arteriosus 21 / 7739
10
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
11
(OMIM) Cystic dysplasia 1 / 7739
12
(OMIM) Unseptated atrium and ventricle 1 / 7739
13
(HPO:0003826) Stillbirth 40 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Shortened legs 1 / 7739
16
(OMIM) Uterine agenesis (1 patient) 2 / 7739
17
(OMIM) Enlarged pancreas 1 / 7739
18
(OMIM) Potter sequence 2 / 7739
19
(OMIM) Cardiac defects 5 / 7739
20
(HPO:0003577) Congenital onset 133 / 7739
21
(OMIM) Ductal plate malformation 5 / 7739
22
(OMIM) Abnormal lung lobulation 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Frank et al. (2013) reported 3 fetuses from a consanguineous pedigree who presented in utero with enlarged organs and cystic/dysplastic changes in the kidney, liver, and pancreas. Two of the affected pregnancies were terminated at 21 and 22 ...
Molecular genetics OMIM In 3 fetuses from a consanguineous pedigree with renal-hepatic-pancreatic dysplasia-2, Frank et al. (2013) identified a homozygous nonsense mutation in the NEK8 gene (R599X; 609799.0002). The mutation was found by homozygosity mapping and candidate gene analysis. Cultured fibroblasts ...