Medullary Cystic Kidney Disease 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Medullary Cystic Kidney Disease 2

MalaCards integrated aliases for Medullary Cystic Kidney Disease 2:

Name: Medullary Cystic Kidney Disease 2 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶

Admckd2 ⁵⁷ ⁷⁵

Mckd2 ⁵⁷ ⁷⁵

Medullary Cystic Kidney Disease 2, Autosomal Dominant; Admckd2 ⁵⁷

Medullary Cystic Kidney Disease 2, Autosomal Dominant ⁵⁷

Autosomal Dominant Medullary Cystic Kidney Disease 2 ⁷⁵

Medullary Cystic Kidney Disease Type 2 ⁷³

Familial Juvenile Gout ⁷³

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 603860

MedGen ⁴² C1859040

MeSH ⁴⁴ D052177

SNOMED-CT via HPO ⁶⁹ 204958008

UMLS ⁷³ C1859040 C0268113

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Summaries for Medullary Cystic Kidney Disease 2

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). For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (174000). (603860)

MalaCards based summary : Medullary Cystic Kidney Disease 2, also known as admckd2, is related to autosomal dominant tubulointerstitial kidney disease, umod-related and cystic kidney disease. An important gene associated with Medullary Cystic Kidney Disease 2 is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotype is multiple small medullary renal cysts.

UniProtKB/Swiss-Prot : ⁷⁵ Medullary cystic kidney disease 2: 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.

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Related Diseases for Medullary Cystic Kidney Disease 2

Diseases in the Medullary Cystic Kidney Disease 1 family:

Medullary Cystic Kidney Disease 2

Diseases related to Medullary Cystic Kidney Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	autosomal dominant tubulointerstitial kidney disease, umod-related	11.5
2	cystic kidney disease	9.9
3	kidney disease	9.9
4	familial juvenile hyperuricaemic nephropathy	9.9

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Symptoms & Phenotypes for Medullary Cystic Kidney Disease 2

Clinical features from OMIM:

603860

Human phenotypes related to Medullary Cystic Kidney Disease 2:

³²

#	Description	HPO Frequency	HPO Source Accession
1	multiple small medullary renal cysts ³²		HP:0008659

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Drugs & Therapeutics for Medullary Cystic Kidney Disease 2

Search Clinical Trials , NIH Clinical Center for Medullary Cystic Kidney Disease 2

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Genetic Tests for Medullary Cystic Kidney Disease 2

Genetic tests related to Medullary Cystic Kidney Disease 2:

#	Genetic test	Affiliating Genes
1	Medullary Cystic Kidney Disease 2 ²⁹	UMOD

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Anatomical Context for Medullary Cystic Kidney Disease 2

MalaCards organs/tissues related to Medullary Cystic Kidney Disease 2:

⁴¹

Kidney

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Publications for Medullary Cystic Kidney Disease 2

Articles related to Medullary Cystic Kidney Disease 2:

#	Title	Authors	Year
1	Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. ( 12471200 )	Hart T.C....Bleyer A.J.	2002

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Genes for Medullary Cystic Kidney Disease 2

Genes related to Medullary Cystic Kidney Disease 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UMOD	Uromodulin	Protein Coding	1349.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12471200 20301530
2	MCKD2	Medullary Cystic Kidney Disease 2 (Autosomal Dominant)	Genetic Locus	8.97	GeneCards inferred via : Gene name (show sections)

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Variations for Medullary Cystic Kidney Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Medullary Cystic Kidney Disease 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	UMOD	p.Gly103Cys	VAR_017666	rs28934584
2	UMOD	p.Thr225Lys	VAR_025957
3	UMOD	p.Cys248Trp	VAR_025958	rs886043751
4	UMOD	p.Cys120Gly	VAR_077514

ClinVar genetic disease variations for Medullary Cystic Kidney Disease 2:

⁶

(show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	UMOD	NM_003361.3(UMOD): c.307G> T (p.Gly103Cys)	single nucleotide variant	Pathogenic	rs28934584	GRCh37	Chromosome 16, 20360316: 20360316
2	UMOD	NM_003361.3(UMOD): c.307G> T (p.Gly103Cys)	single nucleotide variant	Pathogenic	rs28934584	GRCh38	Chromosome 16, 20348994: 20348994
3	UMOD	NM_003361.3(UMOD): c.840C> T (p.Pro280=)	single nucleotide variant	Benign	rs78691203	GRCh37	Chromosome 16, 20359783: 20359783
4	UMOD	NM_003361.3(UMOD): c.840C> T (p.Pro280=)	single nucleotide variant	Benign	rs78691203	GRCh38	Chromosome 16, 20348461: 20348461
5	UMOD	NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	indel	Pathogenic	rs878855325	GRCh38	Chromosome 16, 20349012: 20349023
6	UMOD	NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	indel	Pathogenic	rs878855325	GRCh37	Chromosome 16, 20360334: 20360345
7	UMOD	NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)	single nucleotide variant	Pathogenic	rs886043751	GRCh37	Chromosome 16, 20359879: 20359879
8	UMOD	NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)	single nucleotide variant	Pathogenic	rs886043751	GRCh38	Chromosome 16, 20348557: 20348557
9	UMOD	NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)	single nucleotide variant	Benign	rs55772253	GRCh37	Chromosome 16, 20352618: 20352618
10	UMOD	NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)	single nucleotide variant	Benign	rs55772253	GRCh38	Chromosome 16, 20341296: 20341296
11	UMOD	NM_003361.3(UMOD): c.947A> C (p.Gln316Pro)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 16, 20359571: 20359571
12	UMOD	NM_003361.3(UMOD): c.947A> C (p.Gln316Pro)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 16, 20348249: 20348249

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Expression for Medullary Cystic Kidney Disease 2

Search GEO for disease gene expression data for Medullary Cystic Kidney Disease 2.

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Pathways for Medullary Cystic Kidney Disease 2

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GO Terms for Medullary Cystic Kidney Disease 2

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