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Renal-hepatic-pancreatic dysplasia
2 OMIM references -
2 associated genes
21 connected diseases
No signs/symptoms info
Disease Type of connection
Senior-Loken syndrome
Infantile autosomal recessive medullary cystic kidney disease
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Cone rod dystrophy
Idiopathic CD4 lymphocytopenia
Autosomal recessive limb-girdle muscular dystrophy type 2B
Chronic myeloid leukemia
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 1
Familial thoracic aortic aneurysm and aortic dissection
Fibrodysplasia ossificans progressiva
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Synonym(s):
- Ivemark II syndrome
- Renohepaticopancreatic dysplasia
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
NEK8 Q86SG6609799
NPHP3 Q7Z494608002
No signs/symptoms info available.