U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypophosphatemic nephrolithiasis/osteoporosis 2(NPHLOP2)

MedGen UID:
394127
Concept ID:
C2676782
Disease or Syndrome
Synonyms: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2; NPHLOP2
 
Gene (location): NHERF1 (17q25.1)
 
Monarch Initiative: MONDO:0012851
OMIM®: 612287

Clinical features

From HPO
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Renal phosphate wasting
MedGen UID:
335116
Concept ID:
C1845169
Finding
High urine phosphate in the presence of hypophosphatemia.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.

Recent clinical studies

Etiology

Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska KM, Garagnani P, Biver E, Ferrari S, Iolascon G, Iantomasi T, Brandi ML
Eur J Endocrinol 2023 Jan 10;188(1) doi: 10.1093/ejendo/lvad001. PMID: 36762943
Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA
J Clin Endocrinol Metab 2020 Jul 1;105(7):2392-400. doi: 10.1210/clinem/dgaa217. PMID: 32311027Free PMC Article

Diagnosis

Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska KM, Garagnani P, Biver E, Ferrari S, Iolascon G, Iantomasi T, Brandi ML
Eur J Endocrinol 2023 Jan 10;188(1) doi: 10.1093/ejendo/lvad001. PMID: 36762943

Therapy

Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska KM, Garagnani P, Biver E, Ferrari S, Iolascon G, Iantomasi T, Brandi ML
Eur J Endocrinol 2023 Jan 10;188(1) doi: 10.1093/ejendo/lvad001. PMID: 36762943

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...