Preferred Label : Hypophosphatemia, renal, with intracerebral calcifications;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Chitayat et al. (1990) reported 2 brothers with renal hypophosphatemia, intracerebral
calcifications, and short distal phalanges. The children presented with recurrent
dental abscesses. One had premature closure of the anterior fontanel. Biochemical
findings included hypophosphatemia and elevated serum alkaline phosphatase with normal
serum calcium levels. Blood levels of parathyroid hormone and vitamin D were normal.
Measures of tubular reabsorption of phosphate gave low values. Both parents had normal
serum phosphate and brain CT scan. *FIELD* RF 1. Chitayat, D.; McGillivray, B. C.;
Rothstein, R.; Flodmark, O.; Priddy, R. W.; Ebelt, V. J.; Lirenman, D. S.; Hall, J.
G.: Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications,
and non-rachitic bone changes: apparently new syndrome? Am. J. Med. Genet. 35: 406-414,
1990. *FIELD* CS GU: Renal hypophosphatemia; Tubular phosphate reabsorption low;
Inheritance : Autosomal recessive;
Prefixed ID : 241519;
Origin ID : 241519;
UMLS CUI : C1855809;
Currated CISMeF NLP mapping
- HPO term(s)
- Not associated HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
