Trichothiodystrophy 1, Photosensitive (TTD1)

Alias:

Trichothiodystrophy with Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Tay Syndrome

Ttd1

Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation

Ichthyosis, Congenital, with Trichothiodystrophy

Photosensitive Trichothiodystrophy 1

Pibids Syndrome

Ttdp

Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature

Trichothiodystrophy, Type 1, Photosentitive

Sulfur-Deficient Brittle Hair Syndrome

Trichothiodystrophy, Photosensitive

Trichothiodystrophy Photosensitive

Amish Brittle Hair Brain Syndrome

Trichothiodystrophy Syndromes

Tricho-Thiodystrophy Disorder

Trichothiodystrophy, Type 1

Ttd-P

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Trichothiodystrophy 1, Photosensitive, also known as trichothiodystrophy with congenital ichthyosis, is related to trichothiodystrophy 2, photosensitive and trichothiodystrophy 3, photosensitive, and has symptoms including photophobia and dry skin. An important gene associated with Trichothiodystrophy 1, Photosensitive is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Transcription_P53 signaling pathway and RNA Polymerase I Transcription Termination. Affiliated tissues include skin and brain, and related phenotypes are microphthalmia and protruding ear

Related ID：

MALACARDS：TRC102

OMIM：601675

MESH：D054463