HYPERPHOSPHATASIA (JPD)

Question 1

What is  HYPERPHOSPHATASIA (JPD)?

Accepted Answer

rare
autosomal recessive
mutation in the TNFRSF11B gene
differential diagnosis: - transient hyperphosphatasemia (without clinical or radiological findings) - familial developmental retardation, facial and skeletal abnormalities and hyperphosphatasia (Rabe et al. 1991) therapy with biphosphonate ?

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperphosphatasie, familiäre; Paget-Syndrom, juveniles

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 239000

Question 4

Which enzymes are involved?

Accepted Answer

Tumor necrosis factor receptor superfamily member 11B

Disease	HYPERPHOSPHATASIA (JPD)
Synonym	JUVENILE PAGET DISEASE
OMIM	239000 OMIM = Online Mendelian Inheritance of Men
Orphanet	2801
Protein (UniProt)	Tumor necrosis factor receptor superfamily member 11B
Gene locus	8q24
ICD	M88.0, M88.8., M88.9
Summary	rare autosomal recessive mutation in the TNFRSF11B gene differential diagnosis: - transient hyperphosphatasemia (without clinical or radiological findings) - familial developmental retardation, facial and skeletal abnormalities and hyperphosphatasia (Rabe et al. 1991) therapy with biphosphonate ?
Laboratory findings	Hydroxyproline inc (urine) Phosphatase, alkaline inc (serum) Phosphoethanolamine inc (urine) Uric acid inc ()
Symptoms	bone fractures hearing defect, deafness limb abnormalities, limb deformities muscle weakness onset, childhood pain, bones or joints short neck short stature skeletal changes, skeletal abnormalities X-ray, abnormalities