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Juvenile autosomal recessive medullary cystic kidney disease
5 associated genes
53 connected diseases
No signs/symptoms info
Disease Type of connection
Senior-Loken syndrome
Joubert syndrome with renal defect
Infantile autosomal recessive medullary cystic kidney disease
Acute megakaryoblastic leukemia without Down syndrome
Cranioectodermal dysplasia
Jeune syndrome
Bardet-Biedl syndrome
Meckel syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Spondylocarpotarsal synostosis
Joubert syndrome with hepatic defect
Autosomal recessive limb-girdle muscular dystrophy type 2H
Cone rod dystrophy
Leber congenital amaurosis
Acute promyelocytic leukemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Chudley-McCullough syndrome
Commissural facial cleft
Hereditary sensory and autonomic neuropathy type 2
Pseudohypoaldosteronism type 2C
Tessier number 4 facial cleft
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
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
No signs/symptoms info available.