NPHP3-related Meckel-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST
MKS7
Meckel-like syndrome type 1
goldston syndrome
Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Meckel syndrome type 7
Number of Symptoms 9
OrphanetNr: 3032
OMIM Id: 267010
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a Dandy-Walker malformation as major feature
 -Rare genetic disease
Syndrome with a Dandy-Walker malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
2
(HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 79 / 7739
3
(HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
4
(HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
5
(HPO:0012090) Abnormality of pancreas morphology Frequent [Orphanet] 31 / 7739
6
(HPO:0001080) Biliary tract abnormality Frequent [Orphanet] 26 / 7739
7
(HPO:0001408) Bile duct proliferation 22 / 7739
8
(HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
9
(HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), ...
Clinical Description OMIM Goldston et al. (1963) reported 3 neonate sibs with cystic renal dysplasia, 2 of whom also had Dandy-Walker malformation. Liver and pancreatic abnormalities were not reported (Hunter et al., 1991).

Kudo et al. (1985) reported 2 ...

Molecular genetics OMIM In 2 Turkish sibs with a phenotype consistent with Meckel syndrome, Bergmann et al. (2008) identified a homozygous truncating mutation in the NPHP3 gene (608002.0004). They also identified homozygosity for a truncating mutation in the NPHP3 gene (608002.0005) ...