Results for "Porokeratosis punctata palmaris et plantaris": 8 genes

Name

HHPP Gene

Hyperhidrosis palmaris et plantaris

ARSE Gene

arylsulfatase E (chondrodysplasia punctata 1)

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

CDAGS Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

POROK2 Gene

Porokeratosis, palmar, plantar, and disseminated 1

POROK4 Gene

disseminated superficial actinic porokeratosis 2

POROK7 Gene

Porokeratosis 7, disseminated superficial actinic

POROK6 Gene

Porokeratosis, disseminated superficial actinic, 4

POROK5 Gene

Porokeratosis, disseminated superficial actinic, 3