Hearing lossGene: PHEX
Created: 9 Feb 2016, 10:07 a.m.
Inheritance:X-linked dominant Inheritance:X-linked dominant
Created: 7 Feb 2016, 9 a.m.
Mode of inheritance
#307800:Hypophosphatemic rickets, X-linked dominant[Short stature; Growth retardation; Frontal bossing; Hearing loss has been reported in some adults with severe disease; Hypomineralization of enamelDefect in dentin maturationEnlarged pulp chambersRecurrent dental abscesses; Renal phosphate wastingDecreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR); Rickets in childrenOsteomalacia in adultsOsteoarthritis, more common in adultsJoint painBone painCalcification of entheses (tendons, ligaments, joint capsules), more common in adults; Increased anteroposterior skull length; Spinal cord compressionSpinal stenosis; Flaring of the iliac wings; Bowing of the legsLower limb deformitiesFrayed, irregular metaphysesCurvatures of the femur, tibia, fibulaTrapezoidal distal femoral condylesPseudofractures in adults; Shortening of the talar neckFlattening of the talar dome; HypophosphatemiaIncreased serum alkaline phosphataseNormal to mildly increased serum parathyroid hormone (PTH)Normal serum calciumInappropriately normal to low-normal serum 1,25-dihydroxyvitamin D3Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity () to hypophosphatemia]
PHEX was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert