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Infantile autosomal recessive medullary cystic kidney disease
4 associated genes
22 connected diseases
No signs/symptoms info
Disease Type of connection
Senior-Loken syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Jeune syndrome
Renal-hepatic-pancreatic dysplasia
Joubert syndrome with renal defect
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Catecholaminergic polymorphic ventricular tachycardia
Meckel syndrome
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Familial thoracic aortic aneurysm and aortic dissection
Fibrodysplasia ossificans progressiva
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
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:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ANKS6 Q68DC2615370
INVS Q9Y283243305
NEK8 Q86SG6609799
TTC21B Q7Z4L5612014
No signs/symptoms info available.