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NPHP3-related Meckel-like syndrome
1 OMIM reference -
1 associated gene
12 connected diseases
9 signs/symptoms
Disease Type of connection
Senior-Loken syndrome
Late-onset autosomal recessive medullary cystic kidney disease
Renal-hepatic-pancreatic dysplasia
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Cone rod dystrophy
Idiopathic CD4 lymphocytopenia
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Spinocerebellar ataxia type 1
Synonym(s):
- Goldston syndrome
- Meckel syndrome type 7
- Meckel-like syndrome type 1
- Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NPHP3 Q7Z494608002
Very frequent
- Autosomal recessive inheritance
- Dandy-Walker anomaly
- Multicystic kidney / renal dysplasia

Frequent
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Intestinal / gut / bowel malrotation
- Oligoamnios
- Polyhydramnios
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas