MEDULLARY CYSTIC KIDNEY DISEASE 2

General Information (adopted from Orphanet):

Synonyms, Signs: ADMCKD2
MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
MCKD2
Number of Symptoms 1
OrphanetNr:
OMIM Id: 603860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008659) Multiple small medullary renal cysts 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in ...
Molecular genetics OMIM Hart et al. (2002) showed that MCKD2 and familial juvenile hyperuricemic nephropathy can be caused by mutation in the UMOD gene (see, e.g., 191845.0001 and 191845.0004), which maps to chromosome 16p13.11-p12.3, and are thus allelic disorders. Noting that ...