Albinism ocular late onset sensorineural deafness

Also Known As:

Albinism, Ocular, With Late-Onset Sensorineural Deafness; Albinism, Ocular, With Sensorineural Deafness; Deafness and ocular albinism; Ocular albinism with sensorineural deafness; Waardenburg Syndrome, Type Ii, With Ocular Albinism, Autosomal Recessive; Ws2-Oa

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Albinism ocular late onset sensorineural deafness: 1
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Albinism ocular late onset sensorineural deafness: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Albinism ocular late onset sensorineural deafness: 1
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Ocular Albinism: 92
      - Albinism ocular late onset sensorineural deafness: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Ocular Albinism: 92
        Albinism ocular late onset sensorineural deafness: 1
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Ocular Albinism: 92
        Albinism ocular late onset sensorineural deafness: 1
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Ocular Albinism: 92
        Albinism ocular late onset sensorineural deafness: 1

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Albinism ocular late onset sensorineural deafness:

1.	Transcription Factors (Transcription Factor)IBA 05/01/1997 - "In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR)."