Oculocutaneous albinism type 5
diseaseOn this page
Also known as albinism, oculocutaneous, type VOCA5
Summary
Oculocutaneous albinism type 5 (MONDO:0014127) is a disease. A subtype of oculocutaneous 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): 7
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 1 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Obligate (100%) |
| HP:0000613 | Photophobia | Obligate (100%) |
| HP:0000639 | Nystagmus | Obligate (100%) |
| HP:0001098 | Abnormal fundus morphology | Obligate (100%) |
| HP:0001107 | Ocular albinism | Obligate (100%) |
| HP:0007663 | Reduced visual acuity | Obligate (100%) |
| HP:0007750 | Hypoplasia of the fovea | Obligate (100%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | oculocutaneous albinism type 5 |
| Mondo ID | MONDO:0014127 |
| OMIM | 615312 |
| Orphanet | 370091 |
| DOID | DOID:0070099 |
| SNOMED CT | 722057000 |
| UMLS | C3888401 |
| MedGen | 854888 |
| GARD | 0017598 |
| Is cancer (heuristic) | no |
Also known as: albinism, oculocutaneous, type V · OCA5
Disease family
This is a subtype of oculocutaneous 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 › oculocutaneous albinism › oculocutaneous albinism type 5
Related subtypes (8): oculocutaneous albinism type 2, oculocutaneous albinism type 3, oculocutaneous albinism type 4, oculocutaneous albinism type 7, oculocutaneous albinism type 1, oculocutaneous albinism type 6, oculocutaneous albinism type 8, autosomal dominant oculocutaneous 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.