Temperature-sensitive oculocutaneous albinism type 1
Synonyms: OCA1-TS · TS OCA type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temperature-sensitive oculocutaneous albinism type 1 | OCA1-TS · TS OCA type 1 |
| fr | Albinisme oculocutané type 1 thermosensible | OCA1-TS |
| de | Albinismus, okulokutaner, Typ 1, temperaturempfindlicher | OCA1-TS |
| es | Albinismo oculocutáneo tipo 1 sensible a la temperatura | OCA tipo 1 TS · OCA1-TS |
| it | Albinismo oculocutaneo termosensibile, tipo 1 | OCA TS, tipo 1 · OCA1-TS |
| nl | Temperatuurgevoelig oculocutaan abinisme type 1 | = en |
| pt | Albinismo oculocutâneo sensível à temperatura tipo 1 | OCA1-TS · TS OCA tipo 1 |
| pl | Albinizm oczno-skórny typu 1 wrażliwy na temperaturę | = en |
| cs | Okulokutánní albinismus typ 1, citlivý na teplotu | OCA1-TS · TS OCA typ 1 |
| uk | Температурно-чутливий окулошкірний альбінізм, тип 1 | OCA1-TS · TS OCA тип 1 |
| zh | 温度敏感性眼皮肤白化病1型 | TS OCA1型 |
| tr | Sıcaklığa duyarlı okülokutanöz albinizm tip 1 | OCA1-TS · TS OCA tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606952 | NTBT | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.20 | NTBT | specific | validated |
| MONDO | 0018137 | E | validated | |
| MeSH | C564645 | E | validated | |
| UMLS | C1847132 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:352731Oculocutaneous albinism type 1
rare inborn errors of metabolism; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TYR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12442 | ENSG00000077498 | 606933 | 11q14.3 | tyrosinase | 20301345[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352737
- This record as JSON: /data/d/352737.json