Temperature-sensitive oculocutaneous albinism type 1

General Information (adopted from Orphanet):

Synonyms, Signs: YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
OCULOCUTANEOUS ALBINISM, TYPE IB
OCA1-TS
OCA1-TS, INCLUDED
ALBINISM, YELLOW MUTANT TYPE
OCA1B
TS OCA type 1
Number of Symptoms 7
OrphanetNr: 352737
OMIM Id: 606952
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: <= 10 cases 18925668, 1900307 [IBIS]
Inheritance: Autosomal recessive
1900307 [IBIS]
Age of onset: Neonatal
Infancy
1900307 [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:0007894) Hypopigmentation of the fundus 1900307 IBIS 14 / 7739
2
 (HPO:0000639) Nystagmus 1900307 IBIS 555 / 7739
3
 (HPO:0000613) Photophobia 1900307 IBIS 158 / 7739
4
 (HPO:0000505) Visual impairment 1900307 IBIS 297 / 7739
5
 (HPO:0001022) Albinism 1900307 IBIS 43 / 7739
6
 (HPO:0005599) Hypopigmentation of hair 1900307 IBIS 38 / 7739
7
 (OMIM) Hair bulb tyrosinase present 1900307 IBIS 3 / 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 ...