MCID: HYP623
MIFTS: 31

Hyperuricemic Nephropathy, Familial Juvenile 1

Categories: Genetic diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperuricemic Nephropathy, Familial Juvenile 1

MalaCards integrated aliases for Hyperuricemic Nephropathy, Familial Juvenile 1:

Name: Hyperuricemic Nephropathy, Familial Juvenile 1 54 13
Familial Juvenile Hyperuricemic Nephropathy 12 14
Umod-Associated Familial Juvenile Hyperuricemic Nephropathy 56
Familial Juvenile Hyperuricemic Nephropathy Type 1 56
Familial Juvenile Hyperuricemic Nephropathy 1 71
Hyperuricemic Nephropathy, Familial Juvenile 52
Familial Juvenile Gouty Nephropathy 56
Gouty Nephropathy Familial Juvenile 71
Familial Nephropathy with Gout 56
Nephropathy Familial with Gout 71
Familial Juvenile Gout 69
Umod-Associated Fjhn 56
Fjhn Type 1 56
Fjhn1 71
Hnfj1 71
Fjhn 71

Characteristics:

Orphanet epidemiological data:

56
familial juvenile hyperuricemic nephropathy type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

54
Miscellaneous:
progressive disorder
onset of hyperuricemia or gout in young adulthood

Inheritance:
autosomal dominant


HPO:

32
hyperuricemic nephropathy, familial juvenile 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset progressive


Classifications:



Summaries for Hyperuricemic Nephropathy, Familial Juvenile 1

OMIM : 54
Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is an autosomal dominant disorder characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure (summary by Piret et al., 2011). A form of medullary cystic kidney disease (MCKD2; 603860) is also caused by mutation in the UMOD gene, as is a form of glomerulocystic kidney disease (609886) with hyperuricemia and isosthenuria. (162000)

MalaCards based summary : Hyperuricemic Nephropathy, Familial Juvenile 1, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile 2 and hyperuricemic nephropathy, familial juvenile, 4, and has symptoms including renal insufficiency, tubular atrophy and gout. An important gene associated with Hyperuricemic Nephropathy, Familial Juvenile 1 is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotype is renal/urinary system.

UniProtKB/Swiss-Prot : 71 Familial juvenile hyperuricemic nephropathy 1: A renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis.

Disease Ontology : 12 A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.

Related Diseases for Hyperuricemic Nephropathy, Familial Juvenile 1

Diseases in the Hyperuricemic Nephropathy, Familial Juvenile 2 family:

Hyperuricemic Nephropathy, Familial Juvenile, 3 Hyperuricemic Nephropathy, Familial Juvenile, 4
Hyperuricemic Nephropathy, Familial Juvenile 1

Diseases related to Hyperuricemic Nephropathy, Familial Juvenile 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
id Related Disease Score Top Affiliating Genes
1 hyperuricemic nephropathy, familial juvenile 2 11.9
2 hyperuricemic nephropathy, familial juvenile, 4 11.8
3 renal cysts and diabetes syndrome 11.3
4 autosomal dominant tubulointerstitial kidney disease, ren-related 11.3
5 autosomal dominant tubulointerstitial kidney disease, umod-related 11.3
6 familial juvenile hyperuricaemic nephropathy 11.3
7 ren-related kidney disease 11.1
8 kidney disease 10.3
9 gout 10.2
10 cystic kidney disease 10.1
11 hyperuricemia 10.0
12 cerebral atherosclerosis 9.9 NPHP1 UMOD
13 spinocerebellar ataxia 5 9.9 HPRT1 SLC22A12
14 neutropenia 9.8 SLC22A12 UMOD
15 chronic myelomonocytic leukemia 9.8 NPHP1 UMOD
16 van maldergem syndrome 9.8 HPRT1 SLC22A12
17 dental caries 9.7 HNF1B MUC1
18 nasal cavity disease 9.7 HNF1B MUC1
19 gaucher's disease 9.5 HPRT1 SLC22A12 UMOD
20 lingual goiter 9.5 HPRT1 SLC22A12 UMOD
21 thyroid dyshormonogenesis 1 9.3 HNF1B MUC1 NPHP1
22 inhibited male orgasm 9.3 MUC1 NPHP1 UMOD
23 vaginal spindle cell epithelioma 9.2 HPRT1 MUC1
24 lacrimal gland adenocarcinoma 8.9 HNF1B MUC1 NPHP1 UMOD
25 medullary cystic kidney disease 2 7.8 HNF1B HPRT1 MUC1 NPHP1 SLC22A12 UMOD

Graphical network of the top 20 diseases related to Hyperuricemic Nephropathy, Familial Juvenile 1:



Diseases related to Hyperuricemic Nephropathy, Familial Juvenile 1

Symptoms & Phenotypes for Hyperuricemic Nephropathy, Familial Juvenile 1

Symptoms via clinical synopsis from OMIM:

54

Hematology:
hyperuricemia

Skeletal- Limbs:
gout

Laboratory- Abnormalities:
decreased urinary excretion of uromodulin

Genitourinary- Kidneys:
small medullary cysts
thickening of the basement membrane
tubular atrophy
renal biopsy shows chronic interstitial nephritis
renal failure
more

Clinical features from OMIM:

162000

Human phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile 1:

32
id Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 tubular atrophy 32 HP:0000092
3 gout 32 HP:0001997
4 nephropathy 32 HP:0000112

MGI Mouse Phenotypes related to Hyperuricemic Nephropathy, Familial Juvenile 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 HNF1B HPRT1 NPHP1 SLC22A12 UMOD

Drugs & Therapeutics for Hyperuricemic Nephropathy, Familial Juvenile 1

Search Clinical Trials , NIH Clinical Center for Hyperuricemic Nephropathy, Familial Juvenile 1

Genetic Tests for Hyperuricemic Nephropathy, Familial Juvenile 1

Genetic tests related to Hyperuricemic Nephropathy, Familial Juvenile 1:

id Genetic test Affiliating Genes
1 Familial Juvenile Hyperuricemic Nephropathy Type 1 24 UMOD

Anatomical Context for Hyperuricemic Nephropathy, Familial Juvenile 1

MalaCards organs/tissues related to Hyperuricemic Nephropathy, Familial Juvenile 1:

39
Kidney

Publications for Hyperuricemic Nephropathy, Familial Juvenile 1

Variations for Hyperuricemic Nephropathy, Familial Juvenile 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile 1:

71 (show all 33)
id Symbol AA change Variation ID SNP ID
1 UMOD p.Cys148Tyr VAR_017667 rs28934582
2 UMOD p.Cys217Arg VAR_017668 rs28934583
3 UMOD p.Cys77Tyr VAR_025950 rs121917768
4 UMOD p.Cys126Arg VAR_025952 rs121917769
5 UMOD p.Asn128Ser VAR_025953 rs121917770
6 UMOD p.Cys148Trp VAR_025954
7 UMOD p.Cys150Ser VAR_025955
8 UMOD p.Cys223Tyr VAR_025956
9 UMOD p.Cys248Trp VAR_025958
10 UMOD p.Cys255Tyr VAR_025959 rs121917771
11 UMOD p.Cys300Gly VAR_025960 rs121917772
12 UMOD p.Cys317Tyr VAR_025962
13 UMOD p.Val109Glu VAR_071398 rs780462125
14 UMOD p.Trp230Arg VAR_071399
15 UMOD p.Pro236Gln VAR_071400
16 UMOD p.Ala461Glu VAR_071401
17 UMOD p.Cys52Trp VAR_073052
18 UMOD p.Asp59Ala VAR_073053
19 UMOD p.Cys112Arg VAR_073054
20 UMOD p.Cys135Ser VAR_073055
21 UMOD p.Cys170Tyr VAR_073057
22 UMOD p.Arg185Ser VAR_073058
23 UMOD p.Cys195Phe VAR_073059
24 UMOD p.Trp202Ser VAR_073060
25 UMOD p.Arg204Gly VAR_073061
26 UMOD p.Cys217Gly VAR_073062 rs28934583
27 UMOD p.Arg222Pro VAR_073063
28 UMOD p.Thr225Met VAR_073064
29 UMOD p.Pro236Leu VAR_073065
30 UMOD p.Pro236Arg VAR_073066
31 UMOD p.Cys282Arg VAR_073067
32 UMOD p.Gln316Pro VAR_073068
33 UMOD p.Cys347Gly VAR_073069

ClinVar genetic disease variations for Hyperuricemic Nephropathy, Familial Juvenile 1:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 UMOD UMOD, 27-BP DEL, NT1966 deletion Pathogenic
2 UMOD NM_003361.3(UMOD): c.443G> A (p.Cys148Tyr) single nucleotide variant Pathogenic rs28934582 GRCh37 Chromosome 16, 20360180: 20360180
3 UMOD NM_003361.3(UMOD): c.649T> C (p.Cys217Arg) single nucleotide variant Pathogenic rs28934583 GRCh37 Chromosome 16, 20359974: 20359974
4 UMOD NM_003361.3(UMOD): c.230G> A (p.Cys77Tyr) single nucleotide variant Pathogenic rs121917768 GRCh37 Chromosome 16, 20360393: 20360393
5 UMOD NM_003361.3(UMOD): c.376T> C (p.Cys126Arg) single nucleotide variant Pathogenic rs121917769 GRCh37 Chromosome 16, 20360247: 20360247
6 UMOD NM_003361.3(UMOD): c.383A> G (p.Asn128Ser) single nucleotide variant Pathogenic rs121917770 GRCh37 Chromosome 16, 20360240: 20360240
7 UMOD NM_003361.3(UMOD): c.764G> A (p.Cys255Tyr) single nucleotide variant Pathogenic rs121917771 GRCh37 Chromosome 16, 20359859: 20359859
8 UMOD NM_003361.3(UMOD): c.898T> G (p.Cys300Gly) single nucleotide variant Pathogenic rs121917772 GRCh37 Chromosome 16, 20359620: 20359620
9 UMOD NM_003361.3(UMOD): c.817G> T (p.Val273Phe) single nucleotide variant Pathogenic rs121917774 GRCh37 Chromosome 16, 20359806: 20359806
10 UMOD NM_003361.3(UMOD): c.649T> G (p.Cys217Gly) single nucleotide variant Pathogenic rs28934583 GRCh37 Chromosome 16, 20359974: 20359974
11 UMOD NM_003361.3(UMOD): c.743G> C (p.Cys248Ser) single nucleotide variant Pathogenic rs398122388 GRCh37 Chromosome 16, 20359880: 20359880
12 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh37 Chromosome 16, 20359879: 20359879
13 UMOD NM_003361.3(UMOD): c.587A> G (p.Asp196Gly) single nucleotide variant Likely pathogenic rs1060499657 GRCh37 Chromosome 16, 20360036: 20360036
14 UMOD NM_003361.3(UMOD): c.1463G> A (p.Gly488Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 20352527: 20352527

Expression for Hyperuricemic Nephropathy, Familial Juvenile 1

Search GEO for disease gene expression data for Hyperuricemic Nephropathy, Familial Juvenile 1.

Pathways for Hyperuricemic Nephropathy, Familial Juvenile 1

GO Terms for Hyperuricemic Nephropathy, Familial Juvenile 1

Cellular components related to Hyperuricemic Nephropathy, Familial Juvenile 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 8.96 MUC1 UMOD
2 apical plasma membrane GO:0016324 8.8 MUC1 SLC22A12 UMOD

Biological processes related to Hyperuricemic Nephropathy, Familial Juvenile 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.62 NPHP1 UMOD

Sources for Hyperuricemic Nephropathy, Familial Juvenile 1

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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43 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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