type 1C Usher syndrome

Also Known As:

Usher syndrome, type 1C; Usher syndrome, Acadian variety

Networked: 9 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 1C Usher syndrome: 9
      - Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        type 1C Usher syndrome: 9
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Blindness: 5548
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        type 1C Usher syndrome: 9
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        type 1C Usher syndrome: 9
        Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        type 1C Usher syndrome: 9
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Usher Syndromes: 357
        type 1C Usher syndrome: 9
- Vision Disorders: 2977
  - Blindness: 5548
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        type 1C Usher syndrome: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        type 1C Usher syndrome: 9
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Usher Syndromes: 357
        type 1C Usher syndrome: 9
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 1C Usher syndrome: 9

Related Diseases

1.	Usher Syndromes (Usher Syndrome)
2.	Hearing Loss (Hearing Impairment)
3.	Deafness (Deaf Mutism)
4.	Colonic Neoplasms (Colon Cancer)
5.	Blindness (Hysterical Blindness)

Experts

1.	Hastings, Michelle L: 3 articles (01/2020 - 01/2017)
2.	Jodelka, Francine M: 3 articles (01/2020 - 01/2017)
3.	Lentz, Jennifer J: 3 articles (01/2020 - 11/2011)
4.	Rigo, Frank: 2 articles (01/2020 - 01/2017)
5.	Depreux, Frederic F: 2 articles (01/2018 - 01/2017)
6.	Liu, X Z: 2 articles (01/2006 - 09/2000)
7.	Brigande, Alev M: 1 article (01/2020)
8.	Brigande, John V: 1 article (01/2020)
9.	Dumont, Rachel A: 1 article (01/2020)
10.	Jiang, Han: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1C Usher syndrome:

1.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2011 - "PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C." 11/01/2011 - "Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. "
2.	Antisense OligonucleotidesIBA 01/01/2018 - "Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice." 01/01/2020 - "We previously demonstrated that transuterine microinjection of a splice-switching antisense oligonucleotide (ASO) into the amniotic cavity immediately surrounding the embryo on embryonic day 13-13.5 (E13-13.5) corrected pre-mRNA splicing in the juvenile Usher syndrome type 1c (Ush1c) mouse mutant. "
3.	Proteins (Proteins, Gene)FDA Link 09/01/2000 - "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C." 01/01/2006 - "Mutations in the actin bundling and PDZ domain-containing protein harmonin are the causes of Usher syndrome type 1C (USH1C), a syndrome of congenital deafness and progressive blindness, as well as certain forms of non-syndromic deafness. "
4.	MorpholinosIBA 11/01/2011 - "Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. "
5.	RNA Precursors (Precursor, mRNA)IBA 01/01/2020 - "We previously demonstrated that transuterine microinjection of a splice-switching antisense oligonucleotide (ASO) into the amniotic cavity immediately surrounding the embryo on embryonic day 13-13.5 (E13-13.5) corrected pre-mRNA splicing in the juvenile Usher syndrome type 1c (Ush1c) mouse mutant. "
6.	Retinaldehyde (Retinal)IBA 01/01/2017 - "Usher syndrome type 1C (USH1C/harmonin) is associated with profound retinal, auditory and vestibular dysfunction. "
7.	AutoantigensIBA 08/10/2004 - "AIE-75 has been known as a 75-kDa autoantigen detected in the serum of autoimmune enteropathy (AIE) and as a colon cancer-related antigen, and now designated as a gene causative of Usher syndrome type 1C hereditary syndromic hearing loss. "
8.	AntigensIBA 08/10/2004 - "AIE-75 has been known as a 75-kDa autoantigen detected in the serum of autoimmune enteropathy (AIE) and as a colon cancer-related antigen, and now designated as a gene causative of Usher syndrome type 1C hereditary syndromic hearing loss. "

Therapies and Procedures

1.	Therapeutics 01/01/2014 - "Therapy strategies for Usher syndrome Type 1C in the retina." 01/01/2018 - "Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice."