Ifap Syndrome 1, with or Without Bresheck Syndrome (IFAP1)

Ifap Syndrome 1, with or Without Bresheck Syndrome(来自ICD-11)

别称:

Ifap Syndrome with or Without Bresheck Syndrome

Ichthyosis Follicularis, Atrichia, and Photophobia with or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/eye Anomalies, Cleft Palate/cryptorchidism, and Kidney Dysplasia/hypoplasia

Ichthyosis Follicularis Atrichia Photophobia Syndrome

Ifap1

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, and Kidney Dysplasia-Hypoplasia

Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome

Ifap Syndrome 1 with or Without Bresheck Syndrome

Ifap Syndrome with/without Bresheck Syndrome

Bresheck Syndrome

Ifap Syndrome 1

Bresek Syndrome

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ifap Syndrome 1, with or Without Bresheck Syndrome, also known as ifap syndrome with or without bresheck syndrome, is related to ichthyosis follicularis-alopecia-photophobia syndrome and ichthyosis, and has symptoms including seizures and photophobia. An important gene associated with Ifap Syndrome 1, with or Without Bresheck Syndrome is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Metabolism of steroids. Affiliated tissues include kidney and brain, and related phenotypes are hydrocephalus and global developmental delay

查看原文参与反馈