|
MCID: USH043
MIFTS: 19
|
Usher Syndrome, Type Ih
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Usher Syndrome, Type Ih:
Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Ear diseases
ICD10:
34
|
|
OMIM
:
58
Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss.
For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (276900). (612632)
MalaCards based summary : Usher Syndrome, Type Ih, also known as usher syndrome, type 1h, is related to usher syndrome and usher syndrome, type id. An important gene associated with Usher Syndrome, Type Ih is USH1H (Usher Syndrome 1H (Autosomal Recessive)). Disease Ontology : 12 An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. |
Diseases in the Usher Syndrome family:Diseases related to Usher Syndrome, Type Ih via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Usher Syndrome, Type Ih:
|
|
|
Genetic tests related to Usher Syndrome, Type Ih:
|
|
|
|
Search
GEO
for disease gene expression data for Usher Syndrome, Type Ih.
|
|
|
|