Minimal pigment oculocutaneous albinism type 1

General Information (adopted from Orphanet):

Synonyms, Signs: OCA1-MP
OCA1MP
MP OCA type 1
Number of Symptoms 14
OrphanetNr: 352734
OMIM Id:
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases 8190479 [IBIS]
Inheritance: Autosomal recessive
8190479 [IBIS]
Age of onset: Neonatal
Infancy
8190479 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Minimal pigment oculocutaneous albinism (OCA1MP) is associated with low tyrosinase activity (PMID:8190479).

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 8190479 IBIS 555 / 7739
2
 (HPO:0030539) Unaided visual acuity 0.4 LogMAR 8190479 IBIS 1 / 7739
3
 (HPO:0030536) Unaided visual acuity 0.1 LogMAR 8190479 IBIS 1 / 7739
4
 (HPO:0001054) Numerous nevi 8190479 IBIS 8 / 7739
5
 (MedDRA:10047534) Visual acuity tests abnormal 8190479 IBIS 1 / 7739
6
 (HPO:0000635) Blue irides 8190479 IBIS 25 / 7739
7
 (HPO:0007750) Hypoplasia of the fovea 8190479 IBIS 11 / 7739
8
 (OMIM) White skin 8190479 IBIS 2 / 7739
9
 (HPO:0001022) Albinism 8190479 IBIS 43 / 7739
10
 (HPO:0011364) White hair 8190479 IBIS 4 / 7739
11
 (HPO:0001000) Abnormality of skin pigmentation 8190479 IBIS 105 / 7739
12
 (HPO:0001010) Hypopigmentation of the skin 8190479 IBIS 46 / 7739
13
 (HPO:0012805) Iris transillumination defect 8190479 IBIS 1 / 7739
14
 (OMIM) Hair bulb tyrosinase present 8190479 IBIS 3 / 7739

Associated genes:

TYR;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: