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47 Possible Causes for Caused by Mutation in the Transcription Factor-12 Gene, Syndactyly between Adjacent Toes

  • Craniosynostosis Type 3

    BACKGROUND: Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically. PATIENTS AND METHODS: We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis[…][ncbi.nlm.nih.gov]

  • 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: Syndactyly between Adjacent Toes
  • 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: Syndactyly between Adjacent Toes
  • 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: Syndactyly between Adjacent Toes
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com] Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex.[icd9data.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • 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: Syndactyly between Adjacent Toes
  • 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: Syndactyly between Adjacent Toes
  • 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: Syndactyly between Adjacent Toes
  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] […] and optic nerve problems, among other symptoms Hypopituitarism (a condition in which the pituitary gland underproduces certain hormones) Polydactyly (extra fingers and/or toes[brighthub.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Atrial Septal Defect Type Ostium Primum

    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: Syndactyly between Adjacent Toes

Further symptoms