Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Hyperuricemic nephropathy, familial juvenile type 3(HNFJ3)

MedGen UID:: 481846
•Concept ID:: C3280216
•: Disease or Syndrome

Synonyms:	HNFJ3; HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3

Monarch Initiative:	MONDO:0013643
OMIM®:	614227

Definition

Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by Piret et al. (2011) is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, 162000). [from OMIM]

Clinical features

From HPO

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.

See: Feature record | Search on this feature

Impaired renal concentrating ability

MedGen UID:: 395351
•Concept ID:: C1859819
•: Finding

A defect in the ability to concentrate the urine.

See: Feature record | Search on this feature

Abnormal renal insterstitial morphology

MedGen UID:: 1713223
•Concept ID:: C5397606
•: Anatomical Abnormality

Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.

See: Feature record | Search on this feature

Hyperuricemia

MedGen UID:: 149260
•Concept ID:: C0740394
•: Disease or Syndrome

An abnormally high level of uric acid in the blood.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of metabolism/homeostasis
- Hyperuricemia
Abnormality of the genitourinary system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial juvenile gout
- CROGVFamilial juvenile hyperuricemic nephropathy type 1
- CROGVFamilial juvenile hyperuricemic nephropathy type 2
- CROGVHyperuricemic nephropathy, familial juvenile type 3
- CROGVHyperuricemic nephropathy, familial juvenile type 4
- CROGVRenal cysts and diabetes syndrome

Familial juvenile gout
- Hyperuricemic nephropathy, familial juvenile type 3

Recent clinical studies

Clinical prediction guides

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T
Ren Fail 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. PMID: 29569962 Free PMC Article

Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.

Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S
J Biol Chem 2011 Jan 21;286(3):2224-35. Epub 2010 Nov 16 doi: 10.1074/jbc.M110.149880. PMID: 21081491 Free PMC Article

Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.

Takiue Y, Hosoyamada M, Yokoo T, Kimura M, Shibasaki T
Biol Pharm Bull 2008 Mar;31(3):405-11. doi: 10.1248/bpb.31.405. PMID: 18310901

See all (3)

MedGen

National Center for Biotechnology Information

Send to:

Hyperuricemic nephropathy, familial juvenile type 3(HNFJ3)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity