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incontinentia pigmenti

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
Uniprot Description A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring.
Mondo Term and Equivalent IDs
MONDO:0010631:  incontinentia pigmenti
EFO:1000672: 
GARD:0006778: 
MESH:D007184: 
NCIT:C84787: 
Orphanet:464: 
SCTID:367520004: 
UMLS:C0021171: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)