RED SKIN PIGMENT ANOMALY OF NEW GUINEA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 266350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000613) Photophobia 158 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0001595) Abnormality of the hair 89 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Reddish-brown skin color 1 / 7739
6
(OMIM) Variable from black to almost white 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Walsh (1971) described a pigment anomaly in New Guinea natives. The skin is reddish-brown rather than black as in other natives. Melanin is present, however, and increases with age. The color of the hair varies from the usual ...