Preferred Label : Nephropathy, deafness, and hyperparathyroidism;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Among the children of a consanguineous Pakistani family, Edwards et al. (1989) found
renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia,
and sensorineural deafness. Of 6 sibs, 5 were affected in some way: 1 brother had
deafness and renal failure only; a brother and a sister had deafness, renal failure,
and hyperparathyroidism; a sister had deafness and hyperparathyroidism only; and a
brother had deafness only. Edwards et al. (1989) concluded that the condition is distinct
from Alport syndrome (301050), which usually includes hematuria, is not associated
with hyperparathyroidism, and is X-linked in its best studied form, although there
is an autosomal dominant (104200) and possibly an autosomal recessive (203780) form.
*FIELD* RF 1. Edwards, B. D.; Patton, M. A.; Dilly, S. A.; Eastwood, J. B.: A new
syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism. J.
Med. Genet. 26: 289-293, 1989. *FIELD* CS GU: Renal failure; No hematuria Metabolic:
Hyperparathyroidism;
Inheritance : Autosomal recessive;
Prefixed ID : 256120;
Origin ID : 256120;
UMLS CUI : C1850553;
Currated CISMeF NLP mapping
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
