Ichthyosis follicularis atrichia photophobia syndrome

A rare X-linked recessive disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth and primarily affecting males; female carriers may develop some milder clinical features. Some patients may also have intellectual disability, brain anomalies, HIRSCHSPRUNG DISEASE; CORNEAL OPACITY, kidney dysplasia, CRYPTORCHIDISM; CLEFT PALATE, and skeletal malformations, particularly of the vertebrae, which constitutes Brescheck Syndrome. Mutations in the MBTPS2 gene have been identified. OMIM: 308205

Also Known As:

IFAP syndrome Ichthyosis follicularis atrichia photophobia syndrome; Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome; Ifap syndrome with or without Bresheck syndrome

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Photophobia (Light Sensitivity)
2.	Ichthyosis (Xeroderma)
3.	X-Linked Keratosis Follicularis Spinulosa Decalvans

Experts

1.	Billheimer, Jeffrey: 1 article (01/2022)
2.	Cardinale, Christopher J: 1 article (01/2022)
3.	Copelovitch, Lawrence: 1 article (01/2022)
4.	Hakonarson, Hakon: 1 article (01/2022)
5.	Hou, Cuiping: 1 article (01/2022)
6.	Kim, Sophia E: 1 article (01/2022)
7.	Larosa, Christopher: 1 article (01/2022)
8.	March, Michael E: 1 article (01/2022)
9.	Merves, Jamie: 1 article (01/2022)
10.	Raffini, Leslie: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ichthyosis follicularis atrichia photophobia syndrome:

1.	Transcription Factors (Transcription Factor)IBA 01/01/2022 - "Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). " 05/01/2021 - "Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). " 04/01/2013 - "Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, with keratosis follicularis spinulosa decalvans, and Olmsted syndrome. "
2.	Peptide Hydrolases (Proteases)FDA Link 01/01/2022 - "Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). " 05/01/2021 - "Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). " 04/01/2013 - "Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, with keratosis follicularis spinulosa decalvans, and Olmsted syndrome. "