Create issue ticket

11,047 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Short, Broad Tibia

  • Achondrogenesis, Type 1A

    tibia short radius unossified hands unossified feet micromelia absence of ossification of vertebral bodies, calvarium, pelvic bones (sacrum, ischial and pubic bone) multiple[humpath.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] External features : Short limbs, fingers & toes. Short thorax, protruberent abdomen. Hydropic appearance. X rays : Relatively normal skull bones. Very short long bones.[genetics4medics.com]

  • Achondrogenesis

    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] Abstract We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally.[ncbi.nlm.nih.gov] 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]

    Missing: Broad Tibia
  • Achondrogenesis Type 1B

    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] It is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward.[dict.eudic.net] The fingers and toes are short and the feet may be rotated inward.[livemedinfo.com]

    Missing: Broad Tibia
  • Mesomelic Dysplasia Type Langer

    X-ray shows mandibular hypoplasia, normal spine, bilateral short radii, bilateral short and broad ulna, bilateral short femoral neck, bilateral short tibia and bilateral short[ashg.org] We present an 11-yr-old with combined TS and LMD with severe short stature and skeletal deformities.[ncbi.nlm.nih.gov] HOMOZYGOUS , MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Broad[mousephenotype.org]

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

    […] distances Mild to moderate brachydactyly Short, broad femoral neck Squared, shortened iliaLess common but significant radiologic features: Elongation of the distal fibula[slideshare.net] We examined an Inuit boy with PSACH and severe short stature.[ncbi.nlm.nih.gov] Skeletal survey was done in view of the short stature. Figure 1. Clinical Photograph A, genu varus; B, lumbar lordosis; C, short stubby fingers; D, normal face.[comprped.com]

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

    INTERVENTIONS: Short periods of HFJV.[ncbi.nlm.nih.gov] If you have pneumonia, you are more likely to have a high fever and chills, feel sicker, or be more short of breath.[medlineplus.gov] Cast removal was achieved with short periods of HFJV and subsequent suctioning.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene Broad Tibia
  • Leri-Weill Dyschondrosteosis

    ); unusually short, broad bones in the fingers and toes; and abnormalities of the hipbone (coxa valga).[cags.org.ae] Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders.[ncbi.nlm.nih.gov] […] shinbone Short skankbone [ more ] 0005736 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Ulnar bowing Curving of inner forearm bone 0003031 Wide nasal bridge Broad[rarediseases.info.nih.gov]

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

    (f and g) Short and broad femoral necks. (h and i) Disproportionate long fibula and short and plump tibia. (j) Moderate short and plump humerus.[eje.bioscientifica.com] Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion[ncbi.nlm.nih.gov] […] distances Mild to moderate brachydactyly Short, broad femoral neck Squared, shortened iliaLess common but significant radiologic features: Elongation of the distal fibula[slideshare.net]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Cartilage Hair Hypoplasia

    , short and broad phalanges, loose ligaments with characteristic incomplete extension of the elbows and sparse hair, and was first described in the Amish population of the[analesdepediatria.org] We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell[ncbi.nlm.nih.gov] The relative length of the humerus, ulna, radius, tibia and fibula decreases rapidly in early childhood and again at puberty.[atlasgeneticsoncology.org]

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

    If you have pneumonia, you are more likely to have a high fever and chills, feel sicker, or be more short of breath.[nlm.nih.gov] Acute means the symptoms have been present only for a short time. When acute bronchitis occurs, it almost always comes after having a cold or flu-like illness.[nlm.nih.gov] Some symptoms of acute bronchitis are: Chest discomfort Cough that produces mucus -- the mucus may be clear or yellow-green Fatigue Fever -- usually low-grade Shortness of[nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene Broad Tibia