Oculocutaneous albinism type 1B

General Information (adopted from Orphanet):

Synonyms, Signs: YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
OCULOCUTANEOUS ALBINISM, TYPE IB
OCA1-TS, INCLUDED
ALBINISM, YELLOW MUTANT TYPE
OCA1B
Oculocutaneous albinism type Amish
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
Number of Symptoms 14
OrphanetNr: 79434
OMIM Id: 606952
ICD-10: E70.3
UMLs:
MeSH: C537729
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
5516239, 17980020 [IBIS]
Age of onset: Neonatal
Infancy
5516239 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Oculocutaneous albinism type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 20301345 IBIS 96 / 7739
2
 (HPO:0000613) Photophobia Frequent [Orphanet] 1900307 IBIS 158 / 7739
3
 (HPO:0000639) Nystagmus Frequent [Orphanet] 5516239 IBIS 555 / 7739
4
 (HPO:0000486) Strabismus Very frequent [Orphanet] 5516239 IBIS 576 / 7739
5
 (HPO:0000505) Visual impairment Frequent [Orphanet] 5516239 IBIS 297 / 7739
6
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 5516239 IBIS 40 / 7739
7
 (HPO:0008059) Aplasia/Hypoplasia of the macula Frequent [Orphanet] 5516239 IBIS 21 / 7739
8
 (HPO:0007587) Numerous pigmented freckles Very frequent [Orphanet] 5516239 IBIS 22 / 7739
9
 (HPO:0001072) Thickened skin Occasional [Orphanet] 20301345 IBIS 87 / 7739
10
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 5516239 IBIS 46 / 7739
11
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 20301345 IBIS 63 / 7739
12
 (HPO:0001022) Albinism Very frequent [Orphanet] 5516239 IBIS 43 / 7739
13
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 20301345 IBIS 84 / 7739
14
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

TYR;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA ...
Clinical Description OMIM Witkop (1971) suggested that the 'yellow mutant' (ym) form of albinism first observed among the Amish (Nance et al., 1970) and later observed in non-Amish families (Witkop et al., 1971) may be distinct from both tyrosinase-positive and tyrosinase-negative ...
Genotype-Phenotype Correlations OMIM Chiang et al. (2008) reported a Hispanic family in which 2 sibs had variable manifestations of OCA1B. A 6-year-old boy had nystagmus, decreased vision, light hair, light skin color, and foveal hypoplasia. His sister had exotropia, blonde hair, ...
Molecular genetics OMIM Witkop et al. (1989) concluded, mainly on the basis of the family reported by Hu et al. (1980), that yellow albinism is probably allelic to tyrosinase-negative albinism. Hu et al. (1980) supported the view that the yellow mutant ...