MEDULLARY CYSTIC KIDNEY DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: ADMCKD1
POLYCYSTIC KIDNEYS, MEDULLARY TYPE
MEDULLARY CYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT
MCKD
MCKD1
Number of Symptoms 22
OrphanetNr:
OMIM Id: 174000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004732) Impaired renal uric acid clearance 2 / 7739
2
(HPO:0000096) Glomerulosclerosis 11 / 7739
3
(HPO:0012211) Abnormal renal physiology 23 / 7739
4
(HPO:0000127) Renal salt wasting 21 / 7739
5
(HPO:0005583) Tubular basement membrane disintegration 18 / 7739
6
(HPO:0005576) Tubulointerstitial fibrosis 32 / 7739
7
(HPO:0000089) Renal hypoplasia 78 / 7739
8
(HPO:0000092) Tubular atrophy 28 / 7739
9
(HPO:0001970) Tubulointerstitial nephritis 27 / 7739
10
(HPO:0012213) Decreased glomerular filtration rate 21 / 7739
11
(HPO:0001997) Gout 18 / 7739
12
(HPO:0000822) Hypertension 224 / 7739
13
(HPO:0001903) Anemia 289 / 7739
14
(HPO:0002149) Hyperuricemia 37 / 7739
15
(HPO:0003259) Elevated serum creatinine 31 / 7739
16
(OMIM) Hypotension may occur late in disease due to salt wasting 1 / 7739
17
(OMIM) Corticomedullary cysts 4 / 7739
18
(OMIM) Cysts may be absent in over 50% of patients 1 / 7739
19
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
20
(OMIM) Progression to end stage renal failure in late adulthood (fifth to seventh decade) 1 / 7739
21
(OMIM) Renal biopsy shows medullary cysts 1 / 7739
22
(OMIM) Interstitial inflammation 1 / 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 ...
Clinical Description OMIM Thorn et al. (1944) are credited with the first description of medullary cystic renal disease under the designation 'salt-losing nephritis.' They noted an association with red and blond hair. Rayfield and McDonald (1972) also recognized the association between ...
Molecular genetics OMIM In 16 kindreds with MCKD, Wolf et al. (2006) failed to identify pathogenic sequence changes in 37 genes within the MCKD1 critical region.

In affected members of 6 unrelated families with autosomal dominant medullary cystic kidney ...