HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (XLHR)

Question 1

What is  HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (XLHR)?

Accepted Answer

rare (1:20000)
X-linked dominant
mutation in the phosphate-regulating endopeptidase gene (PHEX)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

X-chromosomale Hypophosphatämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 307800

Question 4

Which enzymes are involved?

Accepted Answer

Phosphate-regulating neutral endopeptidase

Disease	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (XLHR)
Synonym	HYPOPHOSPHATEMIA, X-LINKED; XLH
OMIM	307800 OMIM = Online Mendelian Inheritance of Men
Orphanet	89936
Protein (UniProt)	Phosphate-regulating neutral endopeptidase
ExPASy	3.4.24.B15
Gene locus	Xp22.11
ICD	E83.30
Summary	rare (1:20000) X-linked dominant mutation in the phosphate-regulating endopeptidase gene (PHEX)
Laboratory findings	Calcium normal (plasma) Phosphatase, alkaline inc (serum) Phosphate n/i (urine) Phosphate dec (serum) Parathyroid hormone (PTH) normal/inc (serum)
Symptoms	arthritis bone fractures dental abnormalities gait disturbance muscle weakness pain, bones or joints rickets short stature tinnitus growth retardation, poor growth hearing defect, deafness limb abnormalities, limb deformities onset, infancy osteomalacia spinal stenosis