type 1F Usher syndrome

Also Known As:

Usher syndrome, type 1F

Networked: 7 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 1F Usher syndrome: 7
      - Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        type 1F Usher syndrome: 7
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Blindness: 5548
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        type 1F Usher syndrome: 7
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Deaf-Blind Disorders: 69
        Usher Syndromes: 357
        type 1F Usher syndrome: 7
        Sensorineural Hearing Loss: 3974
        Usher Syndromes: 357
        type 1F Usher syndrome: 7
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Usher Syndromes: 357
        type 1F Usher syndrome: 7
- Vision Disorders: 2977
  - Blindness: 5548
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        type 1F Usher syndrome: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Deaf-Blind Disorders: 69
      - Usher Syndromes: 357
        type 1F Usher syndrome: 7
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Usher Syndromes: 357
        type 1F Usher syndrome: 7
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 1F Usher syndrome: 7

Related Diseases

1.	Deafness (Deaf Mutism)
2.	Leber Congenital Amaurosis
3.	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
4.	Aniridia
5.	Retinoblastoma (Glioblastoma, Retinal)

Experts

1.	Ahmed, Zubair M: 2 articles (06/2006 - 12/2003)
2.	Belyantseva, Inna A: 2 articles (06/2006 - 12/2003)
3.	Friedman, Thomas B: 2 articles (06/2006 - 12/2003)
4.	Griffith, Andrew J: 2 articles (06/2006 - 12/2003)
5.	Riazuddin, Saima: 2 articles (06/2006 - 12/2003)
6.	Riazuddin, Sheikh: 2 articles (06/2006 - 12/2003)
7.	Wilcox, Edward R: 2 articles (06/2006 - 12/2003)
8.	Altarescu, Gheona: 1 article (01/2018)
9.	Blumenfeld, Anat: 1 article (01/2018)
10.	Eldar-Geva, Talia: 1 article (01/2018)

Drugs and Biologics

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

1.	Nonsense Codon (Nonsense Mutation)IBA 12/15/2003 - "Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). "
2.	Biomarkers (Surrogate Marker)IBA 04/15/2010 - "Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F."
3.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "Usher syndrome type 1F is caused by biallelic loss-of-function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15 protein that plays an important role in the morphogenesis and cohesion of stereocilium bundles and retinal photoreceptor cell maintenance and function. "
4.	Prostaglandins DIBA 01/01/2018 - "Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and microphthalmia with coloboma (1 family each). "
5.	CalciumIBA 11/16/2022 - "Here we present a case of Usher syndrome type 1F (USH1F) with a novel homozygous variant in the calcium-dependent cell-cell adhesion protocadherin-15 (PCDH15) gene. "
6.	AntigensIBA 06/28/2006 - "Mass spectrometric and Western blot analyses identify the tip-link antigen, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye, as an avian ortholog of human protocadherin-15, a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus. "
7.	Adenine FDA LinkGeneric 01/01/2023 - "Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F."