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Familial juvenile gout(HNFJ1)

MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonyms: Familial juvenile hyperuricaemic nephropathy; Gouty nephropathy, familial juvenile; HNFJ1; HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; Juvenile gout; Nephropathy, familial, with gout
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial gout with renal failure (46785007); Familial juvenile gouty nephropathy (46785007); Familial juvenile hyperuricemia nephropathy (46785007); Familial juvenile gout (46785007); Precocious adolescent gout (46785007); Familial gout nephropathy (46785007)
Gene (location): UMOD (16p12.3)
OMIM®: 162000
Orphanet: ORPHA209886

Disease characteristics

Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2), and UMOD-associated kidney disease (or uromodulin-associated kidney disease). Typical clinical findings: Urinalysis revealing minimal protein and no blood. Slowly progressive chronic kidney failure, usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the fourth and seventh decades (Age at ESRD varies among and within families.) Hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that occurs as early as the teenage years. [from GeneReviews]
Anthony J Bleyer  |  P Suzanne Hart  |  Stanislav Kmoch   view full author information

Additional descriptions

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. Genetic Heterogeneity of Familial Juvenile Hyperuricemic Nephropathy Familial juvenile hyperuricemic nephropathy-2 (HNFJ2; 613092) is caused by mutation in the renin gene (REN; 179820) on chromosome 1q32. HNFJ3 (614227) has been mapped to chromosome 2p22.1-p21. HNFJ4 (617056) is caused by mutation in the SEC61A1 gene (609213) on chromosome 3q21. An atypical form of HNFJ, associated with renal cysts and diabetes, is caused by mutation in the HNF1B gene (189907) on chromosome 17q12.
From GHR
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.Many individuals with uromodulin-associated kidney disease 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 this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease.Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).

Clinical features

MedGen UID:
Concept ID:
Disease or Syndrome
Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally, uric acid dissolves in the blood. It passes through the kidneys and out of the body in urine. But sometimes uric acid can build up and form needle-like crystals. When they form in your joints, it is very painful. The crystals can also cause kidney stones. Often, gout first attacks your big toe. It can also attack ankles, heels, knees, wrists, fingers, and elbows. At first, gout attacks usually get better in days. Eventually, attacks last longer and happen more often. You are more likely to get gout if you. -Are a man. -Have family member with gout. -Are overweight. -Drink alcohol. -Eat too many foods rich in purines. Gout can be hard to diagnose. Your doctor may take a sample of fluid from an inflamed joint to look for crystals. You can treat gout with medicines. Pseudogout has similar symptoms and is sometimes confused with gout. However, it is caused by calcium phosphate, not uric acid. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
  • Abnormality of metabolism/homeostasis

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial juvenile gout
Follow this link to review classifications for Familial juvenile gout in Orphanet.

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