Oculocutaneous albinism type 3

General Information (adopted from Orphanet):

Synonyms, Signs: ALBINISM III
OCULOCUTANEOUS ALBINISM, TYPE III
XANTHISM
ROCA
OCA3
Red oculocutaneous albinism
rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
Number of Symptoms 9
OrphanetNr: 79433
OMIM Id: 203290
ICD-10: E70.3
UMLs: C0342683
C2931599
MeSH: C537189
C537731
MedDRA:
Snomed: 63450009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
6768477, 8651291 [IBIS]
Age of onset: Neonatal
Infancy
6768477 [IBIS]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000486) Strabismus Frequent [Orphanet] 9345097 IBIS 576 / 7739
2
(HPO:0001107) Ocular albinism Very frequent [Orphanet] 9345097 IBIS 40 / 7739
3
(HPO:0000639) Nystagmus Very frequent [Orphanet] 16704458 IBIS 555 / 7739
4
(HPO:0001595) Abnormality of the hair Frequent [Orphanet] 16704458 IBIS 89 / 7739
5
(HPO:0002297) Red hair 9345097 IBIS 9 / 7739
6
(HPO:0001022) Albinism 16704458 IBIS 43 / 7739
7
(OMIM) Bright copper-red coloration of skin (in darker-skinned individuals) 9345097 IBIS 1 / 7739
8
(OMIM) Reddish hair (in some less dark-skinned individuals) 19533799 IBIS 1 / 7739
9
(OMIM) Bright copper-red hair (in darker-skinned individuals) 9345097 IBIS 1 / 7739

Associated genes:

TYRP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 79 albinos in Nigeria, King et al. (1978) identified 23 with a seemingly 'new' variety of tyrosinase-positive oculocutaneous albinism. Sun sensitivity was less marked. In 86%, retinal pigment was present on funduscopy. Nystagmus was present in 22 ...
Molecular genetics OMIM Boissy et al. (1996) found that cultured melanocytes from an African American male with OCA, whose fraternal twin brother was unaffected, showed an absence of immune-reactive TYRP1 (115501). Analysis of mRNA revealed that transcription of TYRP1 was completely ...
Population genetics OMIM Segregation analysis in 18 Nigerian OCA families led King and Rich (1986) to conclude that the trait is autosomal recessive with an estimated gene frequency of 0.025 +/- 0.007 in that population.

Manga et al. (1997) ...