Format

Send to:

Choose Destination

Familial juvenile gout(HNFJ1)

MedGen UID:
75651
Concept ID:
C0268113
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:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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

Definition

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 GTR]

Additional descriptions

From GeneReviews
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.  https://www.ncbi.nlm.nih.gov/books/NBK1356
From OMIM
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.  http://www.omim.org/entry/162000
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).  https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease

Clinical features

Nephropathy
MedGen UID:
898017
Concept ID:
C1408258
Finding
A nonspecific term referring to disease or damage of the kidneys.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Tubular atrophy
MedGen UID:
388054
Concept ID:
C1858395
Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Nephropathy
MedGen UID:
898017
Concept ID:
C1408258
Finding
A nonspecific term referring to disease or damage of the kidneys.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Tubular atrophy
MedGen UID:
388054
Concept ID:
C1858395
Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Gout
MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.
Gout
MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.

Term Hierarchy

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center