Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

X-linked recessive hypophosphatemic rickets

MedGen UID:
335115
Concept ID:
C1845168
Disease or Syndrome
Synonyms: Hypophosphatemic Rickets, X Linked Recessive; Hypophosphatemic Rickets, X-Linked Recessive
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
425042
Concept ID:
CN001297
Genetic Function
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene: CLCN5
Cytogenetic location: Xp11.23
OMIM: 300554

Definition

X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. [from OMIM]

Clinical features

Nephrocalcinosis
MedGen UID:
504348
Concept ID:
CN000117
Finding
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Nephrolithiasis
MedGen UID:
504597
Concept ID:
CN000736
Finding
The presence of calculi (stones) in the kidneys.
Chronic kidney disease
MedGen UID:
776439
Concept ID:
CN183891
Finding
Functional anomaly of the kidney persisting for at least three months.
Osteomalacia
MedGen UID:
505343
Concept ID:
CN002494
Finding
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Bowing of the legs
MedGen UID:
505427
Concept ID:
CN002695
Finding
A bending or abnormal curvature affecting a `long bone` (FMA:7474) of the leg.
Fibular bowing
MedGen UID:
430013
Concept ID:
CN009333
Finding
A bending or abnormal curvature of the `fibula` (FMA:24479).
Hypophosphatemia
MedGen UID:
505125
Concept ID:
CN001946
Finding
An abnormally decreased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670).

Recent clinical studies

Etiology

Morimoto T, Uchida S, Sakamoto H, Kondo Y, Hanamizu H, Fukui M, Tomino Y, Nagano N, Sasaki S, Marumo F
J Am Soc Nephrol 1998 May;9(5):811-8. PMID: 9596078

Diagnosis

Morimoto T, Chiba A, Kondo Y, Takahashi S, Igarashi T, Inoue CN, Iinuma K
Pediatr Nephrol 2001 Feb;16(2):110-2. PMID: 11261675

Prognosis

Forino M, Graziotto R, Tosetto E, Gambaro G, D'Angelo A, Anglani F
J Hum Genet 2004;49(1):53-60. Epub 2003 Dec 13 doi: 10.1007/s10038-003-0108-1. [Epub ahead of print] PMID: 14673707
Morimoto T, Uchida S, Sakamoto H, Kondo Y, Hanamizu H, Fukui M, Tomino Y, Nagano N, Sasaki S, Marumo F
J Am Soc Nephrol 1998 May;9(5):811-8. PMID: 9596078

Clinical prediction guides

Thakker RV
Kidney Int 2000 Mar;57(3):787-93. doi: 10.1046/j.1523-1755.2000.00916.x. PMID: 10720930
Morimoto T, Uchida S, Sakamoto H, Kondo Y, Hanamizu H, Fukui M, Tomino Y, Nagano N, Sasaki S, Marumo F
J Am Soc Nephrol 1998 May;9(5):811-8. PMID: 9596078
Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G
Eur J Hum Genet 1993;1(4):269-79. PMID: 7915957

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...