Type IC Usher Syndrome

aka USH1C; associated with mutation in USH1C encoding harmonin

Also Known As:

Usher Syndrome, Type IC; Usher Syndrome, Type I, Acadian Variety

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Deafness: 5416
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
      - Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Blindness: 5548
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
        Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2
- Vision Disorders: 2977
  - Blindness: 5548
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        Type IC Usher Syndrome: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        Type IC Usher Syndrome: 2
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Usher Syndromes: 357
        Type IC Usher Syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        Type IC Usher Syndrome: 2

Experts

1.	Aghaie, Alain: 1 article (01/2018)
2.	Akil, Omar: 1 article (01/2018)
3.	Alegria-Prevot, Olinda: 1 article (01/2018)
4.	Avan, Paul: 1 article (01/2018)
5.	Bouleau, Yohan: 1 article (01/2018)
6.	Cortese, Matteo: 1 article (01/2018)
7.	Delmaghani, Sedigheh: 1 article (01/2018)
8.	Dulon, Didier: 1 article (01/2018)
9.	El-Amraoui, Aziz: 1 article (01/2018)
10.	Emptoz, Alice: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type IC Usher Syndrome:

Proteins (Proteins, Gene)FDA Link

01/01/2018 - "Protein-protein interaction assays revealed interactions between clarin-1 and the synaptic CaV1.3 Ca2+ channel complex via the Cavβ2 auxiliary subunit and the PDZ domain-containing protein harmonin (defective in Usher syndrome type IC). "
03/01/2004 - "Usher syndrome type IC is a rare, autosomal recessive sensorineural disorder caused by mutations in the USH1C gene, which encodes a PDZ-domain protein named harmonin. "