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GENATLAS PHENOTYPE

last update : 24-08-2020

Symbol	IFAP2
Location	17p11.2
Name	ichthyosis follicularis, atrichia and photophobia 2
Corresponding gene	SREBF1
Main clinical features	ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, angular cheilitis, and nail dystrophy, abnormalities of the eyes (photophobia, Meibomian gland dysfunction, punctate corneal epithelial defects, corneal pannus, and complicated cataract), and sparse hair (atrichia or hypotrichosis)
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

all SREBF1 mutations detected in the present study affect amino acids clustered within a 4-residue sequence (residues 527–530) located in the lumenal loop of SREBF1 (PMID: 32497488))