MCID: MDL008
MIFTS: 29

Medullary Cystic Kidney Disease 1

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Medullary Cystic Kidney Disease 1

MalaCards integrated aliases for Medullary Cystic Kidney Disease 1:

Name: Medullary Cystic Kidney Disease 1 57 75 29 13 6 73
Medullary Cystic Kidney Disease Type 1 25 59 73
Mckd1 57 59 75
Polycystic Kidneys, Medullary Type 57 25
Admckd1 57 75
Mckd 57 75
Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease 59
Muc1-Related Autosomal Dominant Medullary Cystic Kidney Disease 59
Medullary Cystic Kidney Disease, Autosomal Dominant; Admckd1 57
Autosomal Dominant Medullary Cystic Kidney Disease 1 75
Medullary Cystic Kidney Disease, Autosomal Dominant 57
Autosomal Dominant Medullary Cystic Kidney Disease 25
Autosomal Dominant Interstitial Kidney Disease 25
Nephronophthisis - Medullary Cystic Disease 73
Kidney Disease, Cystic, Medullary, Type 1 40
Medullary Cystic Kidney Disease Type I 73
Medullary Polycystic Kidneys 75
Muci-Related Adtkd 59
Adtkd-Muc1 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 34 to 66 years)


HPO:

32
medullary cystic kidney disease 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Medullary Cystic Kidney Disease 1

OMIM : 57 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 end-stage renal failure by the sixth decade (Wolf et al., 2004). Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1; 256100) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1; 607100) on chromosome 2q13. (174000)

MalaCards based summary : Medullary Cystic Kidney Disease 1, also known as medullary cystic kidney disease type 1, is related to mucin-1 kidney disease and autosomal dominant tubulointerstitial kidney disease, muc1-related. An important gene associated with Medullary Cystic Kidney Disease 1 is MUC1 (Mucin 1, Cell Surface Associated). Affiliated tissues include kidney, and related phenotypes are renal hypoplasia and tubular atrophy

UniProtKB/Swiss-Prot : 75 Medullary cystic kidney disease 1: A 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 end-stage renal failure by the sixth decade.

Genetics Home Reference : 25 Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back into the blood. As MCKD1 progresses, the kidneys are less able to function, resulting in kidney failure.

Related Diseases for Medullary Cystic Kidney Disease 1

Diseases in the Medullary Cystic Kidney Disease 1 family:

Medullary Cystic Kidney Disease 2

Diseases related to Medullary Cystic Kidney Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mucin-1 kidney disease 11.4
2 autosomal dominant tubulointerstitial kidney disease, muc1-related 11.3
3 autosomal dominant tubulointerstitial kidney disease 11.3

Symptoms & Phenotypes for Medullary Cystic Kidney Disease 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension
hypotension may occur late in disease due to salt wasting

Laboratory Abnormalities:
hyperuricemia
increased serum creatinine
decreased glomerular filtration rate (gfr)

Genitourinary Kidneys:
tubulointerstitial nephritis
glomerulosclerosis
tubular atrophy
tubulointerstitial fibrosis
cortical atrophy
more
Hematology:
anemia

Metabolic Features:
gout


Clinical features from OMIM:

174000

Human phenotypes related to Medullary Cystic Kidney Disease 1:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 32 HP:0000089
2 tubular atrophy 32 HP:0000092
3 glomerulosclerosis 32 HP:0000096
4 renal corticomedullary cysts 32 HP:0000108
5 renal salt wasting 32 HP:0000127
6 hypertension 32 HP:0000822
7 anemia 32 HP:0001903
8 tubulointerstitial nephritis 32 HP:0001970
9 gout 32 HP:0001997
10 renal cortical atrophy 32 HP:0002048
11 cerebral cortical atrophy 32 HP:0002120
12 hypotension 32 HP:0002615
13 elevated serum creatinine 32 HP:0003259
14 stage 5 chronic kidney disease 32 HP:0003774
15 impaired renal uric acid clearance 32 HP:0004732
16 tubulointerstitial fibrosis 32 HP:0005576
17 tubular basement membrane disintegration 32 HP:0005583
18 decreased glomerular filtration rate 32 HP:0012213

Drugs & Therapeutics for Medullary Cystic Kidney Disease 1

Search Clinical Trials , NIH Clinical Center for Medullary Cystic Kidney Disease 1

Genetic Tests for Medullary Cystic Kidney Disease 1

Genetic tests related to Medullary Cystic Kidney Disease 1:

# Genetic test Affiliating Genes
1 Medullary Cystic Kidney Disease 1 29 MUC1

Anatomical Context for Medullary Cystic Kidney Disease 1

MalaCards organs/tissues related to Medullary Cystic Kidney Disease 1:

41
Kidney

Publications for Medullary Cystic Kidney Disease 1

Articles related to Medullary Cystic Kidney Disease 1:

(show all 11)
# Title Authors Year
1
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. ( 25818408 )
2015
2
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. ( 24509297 )
2014
3
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. ( 23396133 )
2013
4
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. ( 23475468 )
2013
5
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. ( 16738948 )
2006
6
Medullary cystic kidney disease type 1 in a large Native-American kindred. ( 15384011 )
2004
7
The quest for the gene responsible for medullary cystic kidney disease type 1. ( 15253745 )
2004
8
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. ( 13679497 )
2003
9
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. ( 12234310 )
2002
10
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. ( 11401443 )
2001
11
Medullary Cystic Kidney Disease Type 1 ( 23946964 )
1993

Variations for Medullary Cystic Kidney Disease 1

ClinVar genetic disease variations for Medullary Cystic Kidney Disease 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MUC1 NC_000001.10: g.(155160963_155162030)insC insertion Pathogenic

Expression for Medullary Cystic Kidney Disease 1

Search GEO for disease gene expression data for Medullary Cystic Kidney Disease 1.

Pathways for Medullary Cystic Kidney Disease 1

GO Terms for Medullary Cystic Kidney Disease 1

Sources for Medullary Cystic Kidney Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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