MCID: FML076
MIFTS: 23

Familial Juvenile Hyperuricaemic Nephropathy malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Familial Juvenile Hyperuricaemic Nephropathy

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Aliases & Descriptions for Familial Juvenile Hyperuricaemic Nephropathy:

Name: Familial Juvenile Hyperuricaemic Nephropathy 45
Familial Juvenile Hyperuricemic Nephropathy 45 23
Medullary Cystic Kidney Disease Type 2 23 65
Uromodulin-Associated Kidney Disease 45 23
Umod-Related Kidney Disease 45 23
Fjhn 45 23
Familial Nephropathy Associated with Hyperuricemia 45
Gouty Nephropathy, Familial Juvenile 45
Familial Juvenile Gouty Nephropathy 45
Nephropathy, Familial, with Gout 45
 
Familial Nephropathy with Gout 45
Familial Gout-Kidney Disease 23
Gouty Nephropathy, Familial 45
Familial Gouty Nephropathy 23
Juvenile Gouty Nephropathy 45
Uromodulin Storage Disease 23
Familial Juvenile Gout 65
Juvenile Gout 45
Mckd2 23
Umak 23

Classifications:



External Ids:

UMLS65 C0268113, C1859040

Summaries for Familial Juvenile Hyperuricaemic Nephropathy

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NIH Rare Diseases:45 Familial juvenile hyperuricaemic nephropathy (fjhn) is an inherited condition that affects the kidneys. the signs and symptoms vary, even among members of the same family. many individuals with this condition develop high blood levels of a waste product called uric acid. normally, the kidneys remove uric acid from the blood and transfer it to urine. in fjhn, the kidneys are unable to remove uric acid from the blood effectively. beginning in the early teens, fjhn causes gout and slowly progressive kidney disease, resulting in kidney failure. people with fjhn typically require either dialysis to remove wastes from the blood or a kidney transplant. fjhn is caused by mutations in the umod gene and is inherited in an autosomal dominant fashion. last updated: 11/3/2011

MalaCards based summary: Familial Juvenile Hyperuricaemic Nephropathy, also known as familial juvenile hyperuricemic nephropathy, is related to hyperuricemic nephropathy, familial juvenile 1 and medullary cystic kidney disease 2. An important gene associated with Familial Juvenile Hyperuricaemic Nephropathy is UMOD (Uromodulin). Affiliated tissues include kidney, heart and lung, and related mouse phenotype renal/urinary system.

Genetics Home Reference:23 Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family.

Related Diseases for Familial Juvenile Hyperuricaemic Nephropathy

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Graphical network of the top 20 diseases related to Familial Juvenile Hyperuricaemic Nephropathy:



Diseases related to familial juvenile hyperuricaemic nephropathy

Symptoms for Familial Juvenile Hyperuricaemic Nephropathy

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Drugs & Therapeutics for Familial Juvenile Hyperuricaemic Nephropathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Familial Juvenile Hyperuricaemic Nephropathy

Genetic Tests for Familial Juvenile Hyperuricaemic Nephropathy

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Anatomical Context for Familial Juvenile Hyperuricaemic Nephropathy

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MalaCards organs/tissues related to Familial Juvenile Hyperuricaemic Nephropathy:

33
Kidney, Heart, Lung, Skin

Animal Models for Familial Juvenile Hyperuricaemic Nephropathy or affiliated genes

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MGI Mouse Phenotypes related to Familial Juvenile Hyperuricaemic Nephropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3OIT3, UMOD

Publications for Familial Juvenile Hyperuricaemic Nephropathy

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Articles related to Familial Juvenile Hyperuricaemic Nephropathy:

(show all 18)
idTitleAuthorsYear
1
Charcot-Marie-Tooth disease: New insights from skin biopsy. (26362287)
2015
2
High Resolution Melting Analysis for Epidermal Growth Factor Receptor Mutations in Formalin-fixed Paraffin-embedded Tissue and Plasma Free DNA from Non-small Cell Lung Cancer Patients. (24377577)
2013
3
Rebuttal: the use of PTCA in acute mitral regurgitation and cardiogenic shock: revisited with impella-response from the authors. (23008172)
2013
4
Pathology quiz case 2. Tophaceous pseudogout (calcium pyrophosphate deposition disease [CPDD]) of the TMJ. (22986729)
2012
5
Endoscopic ultrasound (EUS) aspect of duodenal bulb invasion by multifocal malignant pancreatic intraductal papillary mucinous neoplasm (IPMN). (21837609)
2011
6
The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction. (21498565)
2011
7
Analgesics during pregnancy and cryptorchidism: additional analyses. (21642784)
2011
8
Update on Japanese encephalitis vaccine for children: United States, May 2011. (21617633)
2011
9
LPA induces osteoblast differentiation through interplay of two receptors: LPA1 and LPA4. (20069565)
2010
10
PML-RARalpha inhibitors (ATRA, tamibaroten, arsenic troxide) for acute promyelocytic leukemia. (17929112)
2007
11
Proteins interacting with the tuberous sclerosis gene products. (15351877)
2004
12
Effect of ambient temperature on mammary gland metabolism in lactating sows. (12597393)
2003
13
Metabolic drug interactions with new psychotropic agents. (14703714)
2003
14
Redistribution of corticotropin-releasing hormone receptor R2 using fluorescence immunohistochemistry in fetal membranes of women delivering preterm or at term. (12635470)
2002
15
Treatment of aplastic anaemia with granulocyte-colony stimulating factor and risk of malignancy. Italian Aplastic Anaemia Study Group. (11197365)
2001
16
KAP-1 corepressor protein interacts and colocalizes with heterochromatic and euchromatic HP1 proteins: a potential role for Kruppel-associated box-zinc finger proteins in heterochromatin- mediated gene silencing. (10330177)
1999
17
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. (9585359)
1998
18
One-day treatment of vulvovaginal candidiasis with a 500-mg clotrimazole vaginal tablet compared with a three-day regimen of two 100-mg vaginal tablets daily. (3698065)
1986

Variations for Familial Juvenile Hyperuricaemic Nephropathy

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Expression for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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Search GEO for disease gene expression data for Familial Juvenile Hyperuricaemic Nephropathy.

Pathways for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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GO Terms for genes affiliated with Familial Juvenile Hyperuricaemic Nephropathy

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Sources for Familial Juvenile Hyperuricaemic Nephropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet