Preferred Label : Hypophosphatemic rickets, autosomal dominant;
Symbol : ADHR;
CISMeF acronym : ADHR;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Vitamin D-resistant rickets, autosomal dominant; Hypophosphatemia, autosomal dominant;
Description : Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate
wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol)
levels. Patients frequently present with bone pain, rickets, and tooth abscesses.
In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows
incomplete penetrance, variable age at onset (childhood to adult), and resolution
of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic
bone disease (146350). - Genetic Heterogeneity of Hypophosphatemic Rickets Other forms
of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (241520),
caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312),
caused by mutation in the ENPP1 gene (173335) on chromosome 6q22-q23. An X-linked
dominant form (307800) is caused by mutation in the PHEX gene (300550), and an X-linked
recessive form (300554) is caused by mutation in the CLCN5 gene (300008). - Clinical
Variability of Hypophosphatemic Rickets Hypophosphatemic rickets can be caused by
disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic
rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene
(609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism
(612089) may be caused by a translocation that results in an increase in alpha-klotho
levels (KLOTHO; 604824).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0001);
Laboratory abnormalities : Hypophosphatemia; Normal serum parathyroid hormone (PTH); Increased serum alkaline phosphatase; Normocalcemia; Inappropriately normal serum 1,25-dihydroxyvitamin D3;
Prefixed ID : #193100;
Origin ID : 193100;
UMLS CUI : C0342642;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)