Albinism-hearing loss syndrome
disease diseaseOn this page
Also known as ADFNalbinism deafness syndromealbinism-deafness syndromeALDSWoolf syndromeWoolf's syndromeZiprkowski–Margolis syndrome
Summary
Albinism-hearing loss syndrome (MONDO:0010403) is a disease. A subtype of hypopigmentation of the skin — 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:0000407 | Sensorineural hearing impairment | Very frequent (80-99%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (80-99%) |
| HP:0002167 | Abnormality of speech or vocalization | Very frequent (80-99%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (80-99%) |
| HP:0007443 | Partial albinism | Frequent (30-79%) |
| HP:0007544 | Piebaldism | Frequent (30-79%) |
| HP:0001100 | Heterochromia iridis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | albinism-hearing loss syndrome |
| Mondo ID | MONDO:0010403 |
| MeSH | C537042 |
| OMIM | 300700 |
| Orphanet | 998 |
| SNOMED CT | 722285005, 74320008 |
| UMLS | C1845068 |
| MedGen | 375573 |
| GARD | 0000589 |
| Is cancer (heuristic) | no |
Also known as: ADFN · albinism deafness syndrome · albinism-deafness syndrome · ALDS · Woolf syndrome · Woolf’s syndrome · Ziprkowski–Margolis syndrome
Disease family
This is a subtype of hypopigmentation of the skin. 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 body system or component › integumentary system disorder › skin disorder › skin pigmentation disorder › hypopigmentation of the skin › albinism-hearing loss syndrome
Related subtypes (9): Tietz syndrome, piebaldism, piebald trait-neurologic defects syndrome, deafness, congenital, with total albinism, Ito hypomelanosis, deaf blind hypopigmentation syndrome, Yemenite type, syndromic oculocutaneous albinism, oculocutaneous albinism, linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
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.