Create issue ticket

55 Possible Causes for Caused by Mutation in the Transcription Factor-12 Gene, Mild Maxillary Prognathism

  • Craniosynostosis Type 3

    Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz]

  • Ondine Syndrome

    […] by a mutation in the PHOX2B gene located on chromosome band 4 p 12 (1, 3 and 4).[sajch.org.za] This gene encodes a 314-amino acid transcription factor that is expressed in the developing hindbrain and peripheral nervous system, as well as in all non-adrenergic centres[sajch.org.za] , 5 PHOX2B encodes for a transcription factor known to play a key role in the development of autonomic nervous system (ANS) reflex circuits in mice. 3 CCHS is most often caused[sajch.org.za]

    Missing: Mild Maxillary Prognathism
  • Haddad Syndrome

    […] by a mutation in the PHOX2B gene located on chromosome band 4 p 12 (1, 3 and 4).[sajch.org.za] This gene encodes a 314-amino acid transcription factor that is expressed in the developing hindbrain and peripheral nervous system, as well as in all non-adrenergic centres[sajch.org.za] , 5 PHOX2B encodes for a transcription factor known to play a key role in the development of autonomic nervous system (ANS) reflex circuits in mice. 3 CCHS is most often caused[sajch.org.za]

    Missing: Mild Maxillary Prognathism
  • Atrial Septal Defect

    Mutations in NKX2.5, a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Mild Maxillary Prognathism
  • Ostium Primum Atrial Septal Defect

    Mutations in NKX2.5, a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Mild Maxillary Prognathism
  • Atrial Septal Defect 9

    Mutations in NKX2.5, a gene coding for cardiac transcription located on chromosome 5, cause a familial form of ostium secundum ASD. 1% to 4% of ASDs are associated with mutations[clinicaladvisor.com] Subsequently, it was found that at least 75% of patients with Holt-Oram syndrome have abnormalites in TBX5, which is a transcription factor located on chromosome 12.[clinicaladvisor.com]

    Missing: Mild Maxillary Prognathism
  • Ptosis

    Etiology In 85% of cases, BPES is caused by an intragenic mutation (80%), gene deletion (10-12%), deletion of regulatory elements outside of the FOXL2 gene (3q23)( FOXL2 locus[orpha.net] FOXL2 encodes a forkhead transcription factor that contains a typical DNA-binding forkhead domain and a polyalanine tract of 14 residues strictly conserved in mammals.[orpha.net]

    Missing: Mild Maxillary Prognathism
  • Chromosome 22q13.3 Deletion Syndrome
    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Rieger Syndrome

    Facies: - Maxillary hypoplasia - Mild prognathism ... Teeth: - Microdontia - Hypodontia - Cone - shaped teeth ... Ear: - Abnormal ear ... Abdomen: - Umbilical hernia ...[ibis-birthdefects.org] They include mild dysmorphism (hypertelorism, broad flat nose, maxillary hypoplasia, and mild prognathism), dental anomalies (microdontia, hypodontia, anodontia, oligodontia[glaucomatoday.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Peters Anomaly

    They include mild dysmorphism (hypertelorism, broad flat nose, maxillary hypoplasia, and mild prognathism), dental anomalies (microdontia, hypodontia, anodontia, oligodontia[glaucomatoday.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene

Further symptoms