U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypersulfaturia(HYSULF)

MedGen UID:
1841147
Concept ID:
C5830511
Disease or Syndrome
Synonym: HYSULF
 
Gene (location): SLC26A1 (4p16.3)
 
Monarch Initiative: MONDO:0957268
OMIM®: 620372

Definition

Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion due to defective renal sulfate reabsorption. The single reported patient with this condition presented with adult-onset perichondritis of the costovertebral joints (Pfau et al., 2023). [from OMIM]

Clinical features

From HPO
Costochondral pain
MedGen UID:
867229
Concept ID:
C4021587
Finding
Chest wall pain in the area of the costochondral junctions.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Increased urinary sulfate
MedGen UID:
868426
Concept ID:
C4022820
Finding
Elevated concentration of SO4(2-), i.e., sulfate, in the urine.
Decreased circulating sulfate concentration
MedGen UID:
1054394
Concept ID:
CN378001
Finding
The concentration of sulfate in the blood circulation is below the lower limit of normal.

Recent clinical studies

Diagnosis

van de Kamp JM, Bökenkamp A, Smith DEC, Wamelink MMC, Jansen EEW, Struys EA, Waisfisz Q, Verkleij M, Hartmann MF, Wang R, Wudy SA, Paganini C, Rossi A, Finken MJJ
Clin Genet 2023 Jan;103(1):45-52. Epub 2022 Oct 3 doi: 10.1111/cge.14239. PMID: 36175384Free PMC Article

Clinical prediction guides

Pfau A, López-Cayuqueo KI, Scherer N, Wuttke M, Wernstedt A, González Fassrainer D, Smith DE, van de Kamp JM, Ziegeler K, Eckardt KU, Luft FC, Aronson PS, Köttgen A, Jentsch TJ, Knauf F
J Clin Invest 2023 Feb 1;133(3) doi: 10.1172/JCI161849. PMID: 36719378Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...