Oculocutaneous albinism type 6

General Information (adopted from Orphanet):

Synonyms, Signs: SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN ALBINISM, OCULOCUTANEOUS, TYPE VI, INCLUDED
OCA6, INCLUDED
OCA6
SHEP4
Number of Symptoms 13
OrphanetNr: 370097
OMIM Id: 113750
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 6 of 100 000
Inheritance: Autosomal recessive
Monogenic
23364476 [IBIS]
Age of onset: Neonatal
Infancy
23364476 [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:0007663) Reduced visual acuity 23364476 IBIS 100 / 7739
2
 (HPO:0000613) Photophobia 23364476 IBIS 158 / 7739
3
 (HPO:0000505) Visual impairment 23364476 IBIS 297 / 7739
4
 (HPO:0000639) Nystagmus 23364476 IBIS 555 / 7739
5
 (HPO:0001595) Abnormality of the hair 23364476 IBIS 89 / 7739
6
 (OMIM) Mild photophobia 23364476 IBIS 3 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 23364476 IBIS 2538 / 7739
8
 (OMIM) Nystagmus, mild 23364476 IBIS 2 / 7739
9
 (OMIM) Fewer mature melanosomes in melanocytes 23364476 IBIS 1 / 7739
10
 (OMIM) Hypopigmented and underdeveloped macula 23364476 IBIS 1 / 7739
11
 (OMIM) Transparent iris 23364476 IBIS 1 / 7739
12
 (OMIM) Lighter skin color 23364476 IBIS 1 / 7739
13
 (OMIM) Absence of central fovea of macula on optical coherence tomography 23364476 IBIS 1 / 7739

Associated genes:

SLC24A5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such ...
Clinical Description OMIM Wei et al. (2013) studied a Chinese family in which the proband was a girl who had been clinically diagnosed at 3 years of age with oculocutaneous albinism. Her hair at birth was blond but darkened with age. ...
Molecular genetics OMIM Stokowski et al. (2007) demonstrated an association between the SNP dbSNP rs1426654 and skin pigmentation variation in individuals of South Asian descent.

In a man from eastern India who had extreme hypopigmentation resulting in pinkish-white skin, ...