Disease & disorder
obsolete IFAP/BRESHECK syndrome
MONDO:0010624
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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MONDO disease family
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Recruiting studies by city
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Investigated drug interventions
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Background context
Ichthyosis follicularis with alopecia and photophobia syndrome
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an extremely rare genetic syndrome caused by mutations in the MBTPS2 gene. It is extremely rare: there were only 40 known cases (all male) until 2011.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.