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Nephropathy - deafness - hyperparathyroidism syndrome

MedGen UID:
340569
•Concept ID:
C1850553
•
Disease or Syndrome
Synonyms: Nephropathy deafness hyperparathyroidism; NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009729
OMIM®: 256120
Orphanet: ORPHA2668

Definition

A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephropathy - deafness - hyperparathyroidism syndrome
Follow this link to review classifications for Nephropathy - deafness - hyperparathyroidism syndrome in Orphanet.

Recent clinical studies

Etiology

Indication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease.
Marinescu D, Bică EC, Ghiluşi MC, Bică M, Pătraşcu AM, Pătraşcu Ş, Pantea S, Strâmbu VDE, Şurlin V, Mărgăritescu ND, Sapalidis K, Rotaru I
Rom J Morphol Embryol 2018;59(2):573-576. PMID: 30173265
Adult presentation of Bartter syndrome type IV with erythrocytosis.
Heilberg IP, Tótoli C, Calado JT
Einstein (Sao Paulo) 2015 Oct-Dec;13(4):604-6. Epub 2015 Oct 30 doi: 10.1590/S1679-45082015RC3013. PMID: 26537508Free PMC Article

Diagnosis

Indication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease.
Marinescu D, Bică EC, Ghiluşi MC, Bică M, Pătraşcu AM, Pătraşcu Ş, Pantea S, Strâmbu VDE, Şurlin V, Mărgăritescu ND, Sapalidis K, Rotaru I
Rom J Morphol Embryol 2018;59(2):573-576. PMID: 30173265

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