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2,360 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Skeletal Dysplasia

  • Achondrogenesis

    Skeletal Dysplasia is an umbrella term for what is more commonly known as "dwarfism".[littlefireosuna.blogspot.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

  • Achondrogenesis Type 1B

    Mutations in a sulfate/chloride antiporter of the cell membrane, called diastrophic dysplasia sulfate transporter (DTDST), result in a family of skeletal dysplasias that comprises[ommbid.mhmedical.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] Skeletal Dysplasia is an umbrella term for what is more commonly known as "dwarfism".[littlefireosuna.blogspot.com]

  • Achondrogenesis, Type 1A

    Skeletal Dysplasia is an umbrella term for what is more commonly known as "dwarfism".[littlefireosuna.blogspot.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[dict.eudic.net] dysplasia Diagnosis for known familial pathogenic variant(s) Distinguish between causes and forms of skeletal dysplasias Genetic counseling, especially regarding recurrence[genedx.com]

  • Atelosteogenesis Type 2

    Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common nonlethal skeletal dysplasia.[thehealthscience.com] In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[drsherazi110.blogspot.com] Diastrophic dysplasia (DTD) is a severe, though usually nonlethal form of skeletal dysplasia with marked short stature, bilateral clubfoot, cleft palate, characteristic hand[sybil-fp7.eu]

  • Malnutrition

    T2-weighted MR (magnetic resonance) images of a 19-year-old woman undergoing concurrent chemoradiotherapy for a nasopharyngeal carcinoma revealed a lesion marked by focal hyper signal intensity in the splenium of the corpus callosum. The lesion was not visible two weeks later. She suffered from malnutrition[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[ncbi.nlm.nih.gov] NAGLU and CYP26B1 mutations were related to MPS IIIB and skeletal dysplasia, respectively.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Hydrocephalus

    Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[neuropathology-web.org] Developmental hydrocephalus includes also cases due to crowding of the posterior fossa (Chiari I, skeletal dysplasias), and other poorly cases of hydrocephalus without an[neuropathology-web.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Growth Hormone Deficiency

    dysplasia.[ncbi.nlm.nih.gov] . • Skeletal dysplasia • Nonnan syndrome 31.[slideshare.net] dysplasias, familial short stature, Russell-Silver Syndrome, Turner Syndrome, etc.).[magicfoundation.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Osteogenesis Imperfecta

    When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[ncbi.nlm.nih.gov] Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014;6:808-25. [ PUBMED ] 20. Trejo P, Rauch F.[doi.org] Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Schwartz-Jampel Syndrome

    dysplasia .[ncbi.nlm.nih.gov] dysplasia Burton syndrome myotonic chondrodystrophy SJS SCHWARTZ-JAMPEL SYNDROME, TYPE 1 Chondrodystrophic Myotonia Dysostosis enchondralis metaepiphysaria, Catel-Hempel[wikidata.org] We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic skeletal dysplasia of Schwartz-Jampel syndrome.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

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