Ifap syndrome 1, with or without bresheck syndrome

Preferred Label : Ifap syndrome 1, with or without bresheck syndrome;

Symbol : IFAP1;

CISMeF acronym : IFAP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 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;

Description : The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0001);

Prefixed ID : #308205;

Details

Origin ID

308205;

UMLS CUI

C5399971;

Automatic exact mappings (from CISMeF team)
- BRESEK syndrome [ORDO Disease]
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
- ichthyosis follicularis atrichia photophobia syndrome [MeSH Supplementary Concept]
- ichthyosis follicularis-alopecia-photophobia syndrome 1 [DO Concept]
DO Cross reference
- ichthyosis follicularis-alopecia-photophobia syndrome 1 [DO Concept]
Genes related to phenotype
- Membrane-bound transcription factor protease, site 2 [OMIM gene]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Aganglionic megacolon [HPO term]
- Alopecia [HPO term]
- Brain atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Dry skin [HPO term]
- Ectodermal dysplasia [HPO term]
- Erythroderma [HPO term]
- Follicular hyperkeratosis [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hip dislocation [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Ichthyosis [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Microcephaly [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Oligohydramnios [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Opacification of the corneal stroma [HPO term]
- Photophobia [HPO term]
- Postaxial hand polydactyly [HPO term]
- Recurrent corneal erosions [HPO term]
- Renal dysplasia [HPO term]
- Scaling skin [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Umbilical hernia [HPO term]
- Unilateral chest hypoplasia [HPO term]
- Unilateral renal agenesis [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- BRESEK syndrome [ORDO Disease]
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis follicularis atrichia photophobia syndrome [MeSH concept]
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
- ichthyosis follicularis atrichia photophobia syndrome [MeSH Supplementary Concept]
- ichthyosis follicularis-alopecia-photophobia syndrome 1 [DO Concept]

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