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Sensorineural hearing loss-early graying-essential tremor syndrome

MedGen UID:
1389497
Concept ID:
C4510044
Disease or Syndrome
Synonyms: Sensorineural deafness-early graying-essential tremor syndrome; Sensorineural hearing loss, early graying, essential tremor syndrome; sensorineural hearing loss-early graying-essential tremor syndrome
SNOMED CT: Sensorineural hearing loss, early graying, essential tremor syndrome (723721007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019022
Orphanet: ORPHA66633

Definition

Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSensorineural hearing loss-early graying-essential tremor syndrome

Recent clinical studies

Etiology

Karmody CS, Blevins NH, Lalwani AK
Otolaryngol Head Neck Surg 2005 Jul;133(1):94-9. doi: 10.1016/j.otohns.2005.03.017. PMID: 16025060

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