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

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Disease Ontology 12 DOID:0111821 OMIM® 57 308205 OMIM Phenotypic Series 57 PS308205 KEGG 36 H00740 MeSH 44 C536085 D000505 D007057 D020795 more MESH via Orphanet 45 C536085

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 71 C1839988 C3502469 Orphanet 58 ORPHA2273 ORPHA85284 MedGen 41 C1839988 C3275579 SNOMED-CT via HPO 68 103276001 111266001 123983008 126485001 128473001 128613002 13624003 14411002 15188001 157265008 16026008 16386004 18735004 197811007 199612005 200948000 202281000 20255002 204043002 204108000 204508009 204739008 204878001 204949001 204962002 205043005 205131007 2055003 21850008 22033007 224958001 228156007 230745008 231796003 234532001 237836003 237837007 238629004 238810007 246545002 246622003 246957002 247441003 247472004 247578003 253143001 253208007 254024005 254154003 25694009 26996000 271611007 271767006 271811009 275478007 275480001 276411001 276506001 278040002 278849000 281104002 313307000 32659003 33995003 343087000 36440009 367495003 396228006 396232000 396347007 396349005 396350005 398151007 398152000 399955009 399992009 400005007 402341008 40700009 409668002 413921009 41446000 414564002 418143002 422065006 422441003 428875002 43064006 43116000 432788009 443871003 444827008 45004005 50792001 5102002 52448006 52522001 53602002 55726006 563001 56317004 56558005 57190000 5888003 59566000 609225004 61142002 63567004 64217002 64305001 64634000 67761004 68359008 69056000 69215007 69758005 70819003 74877002 78164000 78370002 7847004 81208006 815008 81845009 82525005 82649003 84757009 8654005 86735004 87065009 87979003 90145001 91138005 91175000 91514001 95499004 95515009 95576001 95735008 95828007 9826008 more UMLS 70 C1839988 C3502469

KEGG : ³⁶ Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome.

MalaCards based summary : Ifap Syndrome 1, with or Without Bresheck Syndrome, also known as ifap syndrome with or without bresheck syndrome, is related to ichthyosis follicularis atrichia photophobia syndrome and olmsted syndrome, x-linked, 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 Protein processing in endoplasmic reticulum and Chks in Checkpoint Regulation. Affiliated tissues include brain, kidney and eye, and related phenotypes are intellectual disability and hydrocephalus

Disease Ontology : ¹² A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has material basis in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.

OMIM® : ⁵⁷ 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). (308205) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² IFAP syndrome with or without BRESHECK syndrome: A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well- preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.

Clinical features from OMIM®:

308205 (Updated 05-Apr-2021)

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