DILUTION, PIGMENTARY

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOPIGMENTATION
ALBINISM, PARTIAL
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
Number of Symptoms 9
OrphanetNr:
OMIM Id: 126070
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
2
 (HPO:0007730) Iris hypopigmentation 4 / 7739
3
 (HPO:0005599) Hypopigmentation of hair 38 / 7739
4
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
5
 (OMIM) Fine punctate or diffuse depigmentation of irides and fundi 1 / 7739
6
 (OMIM) Hypopigmented hair 1 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Hypomelanism 1 / 7739
9
 (OMIM) No nystagmus, photophobia, or visual defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: