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47 Possible Causes for Large Upper Right Central Incisor, Mutation in the MBTPS2 Gene

  • X-Linked Keratosis Follicularis Spinulosa Decalvans

    Anteversion of the upper anterior teeth, congenital absence of right lower central incisors, and deep overbite and overjet of the anterior teeth also were seen.[mdedge.com] KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome.[kclpure.kcl.ac.uk] KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photophobia syndrome [4] .[scidoc.org]

  • Hereditary Mucoepithelial Dysplasia

    Andrew Ming, Rudolf Happle, Karl‐Heinz Grzeschik and Gayle Fischer, Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in[doi.org] Diagnosis The diagnosis of the IFAP syndrome is based on the clinical features and on the presence of a mutation in the MBTPS2 gene.[ojrd.biomedcentral.com] Ming A, Happle R, Grzeschik KH, Fischer G: Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred[link.springer.com]

    Missing: Large Upper Right Central Incisor
  • Isolated Congenital Sclerocornea

    […] in the TBX1 gene. – IFAP syndrome with or without BRESHECK syndrome : caused by MBTPS2 mutations. – Primrose syndrome : caused by heterozygous mutation in the ZBTB20 gene[bredagenetics.com] Kondoh syndrome – Di George syndrome and DiGeorge syndrome/velocardiofacial syndrome complex 2 : caused by a 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 or point mutations[bredagenetics.com]

    Missing: Large Upper Right Central Incisor
  • Autosomal Dominant Prognathism

    Examination of oral cavity revealed several deciduous teeth without any upper right permanent central incisor or lower permanent central incisor.[e-acfs.org] Panoramic X-ray revealed a large number of unerupted permanent teeth, residual baby teeth, and several supernumerary impacted teeth ( Fig. 4 ).[e-acfs.org]

    Missing: Mutation in the MBTPS2 Gene
  • IFAP Syndrome with or without BRESHEK Syndrome

    Diagnosis The diagnosis of the IFAP syndrome is based on the clinical features and on the presence of a mutation in the MBTPS2 gene.[ojrd.biomedcentral.com] Etiology The disorder is caused by mutations in the MBTPS2 gene (Xp22.12-p22.11) leading to impaired cholesterol homeostasis and response to endoplasmic reticulum stress.[orpha.net] Etiology IFAP syndrome results from missense mutations in the membrane-bound transcription factor protease site 2 ( MBTPS2 ) gene [ 17 ].[ojrd.biomedcentral.com]

    Missing: Large Upper Right Central Incisor
  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Obligate female carriers have normal intelligence and behavior. [ read more ] MBTPS2 causing KFSDX 308800 The disease is caused by mutations affecting the gene represented[nectarmutation.org]

    Missing: Large Upper Right Central Incisor
  • Isolated Brachycephaly

    […] in the TBX1 gene. – IFAP syndrome with or without BRESHECK syndrome : caused by MBTPS2 mutations. – Primrose syndrome : caused by heterozygous mutation in the ZBTB20 gene[bredagenetics.com] Kondoh syndrome – Di George syndrome and DiGeorge syndrome/velocardiofacial syndrome complex 2 : caused by a 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 or point mutations[bredagenetics.com]

    Missing: Large Upper Right Central Incisor
  • Gorlin-Chaudhry-Moss Syndrome

    […] in the MBTPS2 gene.[biomedsearch.com] Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane ... 444 Octreotide improves[biomedsearch.com] […] follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations[biomedsearch.com]

    Missing: Large Upper Right Central Incisor
  • Acrootoocular Syndrome

    […] in the TBX1 gene. – IFAP syndrome with or without BRESHECK syndrome : caused by MBTPS2 mutations. – Primrose syndrome : caused by heterozygous mutation in the ZBTB20 gene[bredagenetics.com] Kondoh syndrome – Di George syndrome and DiGeorge syndrome/velocardiofacial syndrome complex 2 : caused by a 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 or point mutations[bredagenetics.com]

    Missing: Large Upper Right Central Incisor
  • Jaffe-Campanacci Syndrome

    […] in the MBTPS2 gene.[biomedsearch.com] Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane ... 444 Octreotide improves[biomedsearch.com] […] follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations[biomedsearch.com]

    Missing: Large Upper Right Central Incisor

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