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Late-onset autosomal recessive medullary cystic kidney disease
3 associated genes
28 connected diseases
No signs/symptoms info
Disease Type of connection
Senior-Loken syndrome
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia
Hereditary nonpolyposis colon cancer
Fanconi anemia
Constitutional mismatch repair deficiency syndrome
Non-polyposis Turcot syndrome
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Muir-Torre syndrome
Cone rod dystrophy
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic CD4 lymphocytopenia
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
17p13.3 microduplication syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal 17p13.3 microdeletion syndrome
Distal myopathy with anterior tibial onset
Familial isolated dilated cardiomyopathy
Miller-Dieker syndrome
Miyoshi myopathy
Muscular dystrophy, Selcen type
Pseudohypoaldosteronism type 2E
Spinocerebellar ataxia type 1
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FAN1 Q9Y2M0613534
NPHP3 Q7Z494608002
XPNPEP3 Q9NQH7613553
No signs/symptoms info available.