Ocular albinism with late-onset sensorineural deafness
diseaseOn this page
Also known as albinism ocular late onset sensorineural deafnessalbinism, ocular, with late-onset sensorineural deafnessOASD
Summary
Ocular albinism with late-onset sensorineural deafness (MONDO:0010390) is a disease. A subtype of ocular albinism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 6
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 9 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
6 HPO clinical features (Orphanet curated; top 6 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000407 | Sensorineural hearing impairment | Very frequent (80-99%) |
| HP:0000505 | Visual impairment | Very frequent (80-99%) |
| HP:0000613 | Photophobia | Very frequent (80-99%) |
| HP:0000639 | Nystagmus | Very frequent (80-99%) |
| HP:0001107 | Ocular albinism | Very frequent (80-99%) |
| HP:0000486 | Strabismus | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ocular albinism with late-onset sensorineural deafness |
| Mondo ID | MONDO:0010390 |
| OMIM | 300650 |
| Orphanet | 1000 |
| SNOMED CT | 722054007 |
| UMLS | C1845069 |
| MedGen | 337149 |
| GARD | 0000592 |
| Is cancer (heuristic) | no |
Also known as: albinism ocular late onset sensorineural deafness · albinism, ocular, with late-onset sensorineural deafness · OASD
Disease family
This is a subtype of ocular albinism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › disorder of melanin metabolism › ocular albinism › ocular albinism with late-onset sensorineural deafness
Related subtypes (2): X-linked recessive ocular albinism, autosomal recessive ocular albinism
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.