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Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

MedGen UID:
419395
•Concept ID:
C2931369
•
Disease or Syndrome
Synonyms: Hearing loss and familial salivary gland insensitivity to aldosterone; Hearing loss insensitivity to aldosterone; Tunglang Savage Bellman syndrome
 
Monarch Initiative: MONDO:0017921
Orphanet: ORPHA3225

Definition

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHearing loss-familial salivary gland insensitivity to aldosterone syndrome

Recent clinical studies

Diagnosis

A new syndrome: hearing loss and familial salivary gland insensitivity to aldosterone in two brothers.
Tungland OP, Savage MO, Bellman SC
J Laryngol Otol 1990 Dec;104(12):956-8. doi: 10.1017/s0022215100114471. PMID: 2280149

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