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3,490 Possible Causes for Mutation in the Thyroid Hormone Receptor Interactor 11 Gene, Short Extremities

  • 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] short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities.[emedicine.medscape.com] 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

    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] Diastrophic dysplasia is a more mild form characterized by short stature (very short extremities), protruding abdomens, and narrow chests.[nxgenmdx.com] 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]

  • Achondrogenesis, Type 1A

    short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities.[emedicine.medscape.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] short Thorax – Short and flared thorax, bell-shaped cage, lung hypoplasia Abdomen – Protuberant Limbs – Extremely short (micromelia) Causes Type IA is an autosomal recessive[odlarmed.com]

  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

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

    The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org] , prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling.[doi.org] Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a[en.wikipedia.org]

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

    Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

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

    Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com] […] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth[emedicine.medscape.com] Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative[journals.lww.com]

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

    Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows.[ncbi.nlm.nih.gov] Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation[radiopaedia.org] Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature.[bloodjournal.org]

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

    Practice Essentials Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta[…][emedicine.medscape.com]

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

    He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov] Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock[hopkinsmedicine.org] Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

Further symptoms