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1,053 Possible Causes for Achondrogenesis, Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

  • Achondrogenesis

    Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus.[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 types 1A and 1B are rare genetic disorders; their incidence is unknown.[ghr.nlm.nih.gov]

  • Achondrogenesis Type 1B

    See also [ edit ] Diastrophic dysplasia Achondrogenesis type 1A References [ edit ] [1] Achondrogenesis Type 1B, GeneReviews Bookshelf, 2002-2014, L. Bonafé, L.[en.wikipedia.org] 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] We describe a diastrophic dysplasia (DTDST) gene mutation in a Japanese male fetus with achondrogenesis type 1B and his relatives.[ncbi.nlm.nih.gov]

  • Achondrogenesis, Type 1A

    Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus .[en.academic.ru] 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] Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown.[ghr.nlm.nih.gov]

  • Atelosteogenesis Type 2

    Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus .[drsherazi110.blogspot.com] Parallel in vitro studies in a patient with achondrogenesis 1B indicated that the severity of the clinical phenotype seems to be correlated to the residual activity of the[ncbi.nlm.nih.gov] Achondrogenesis. Fetus 1992 ;2:7564. Wenstrom KD, Williamson RA, Hoover WW et.al. Achondrogenesis type II in association with jugular lymphatic obstruction sequence.[fetalultrasound.com]

  • Spondyloperipheral Dysplasia

    An infant with achondrogenesis type II.[emedicine.medscape.com] Disease Type of connection Otospondylomegaepiphyseal dysplasia Achondrogenesis type 2 Autosomal dominant rhegmatogenous retinal detachment Czech dysplasia, metatarsal type[csbg.cnb.csic.es] DISEASE ASSOCIATED WITH col2a1a HUMAN ORTHOLOG Disease Ontology Term OMIM Term OMIM Phenotype ID achondrogenesis type II Achondrogenesis, type II or hypochondrogenesis 200610[zfin.org]

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

    type 1A AR Severe micromelia, thoracic hypoplasia, hydropic fetal appearance Prenatal or newborn lethality TRPV4 Metatropic dysplasia; parastremmatic dwarfism; spondyloepiphyseal[arupconsult.com] The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis.[patient.info] The most common forms of SD are achondrogenesis, thanatophoric dysplasia, achondroplasia and osteogenesis imperfecta.[symptoma.com]

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

    Parallel in vitro studies in a patient with achondrogenesis 1B indicated that the severity of the clinical phenotype seems to be correlated to the residual activity of the[ncbi.nlm.nih.gov] An overlap of phenotypic, radiographic, morphological, and cartilage histochemical features with those observed in diastrophic dysplasia and achondrogenesis type IB suggests[ncbi.nlm.nih.gov] Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    type 1A (Protuberant abdomen) Achondrogenesis, type IA (Protuberant abdomen) Achondrogenesis (Protuberant abdomen) Acrocephalopolydactyly (Protuberant abdomen) Acute neuronopathic[familydiagnosis.com] Bueno M, Toledo F, Toledo J, et al (1980) Achondrogenesis type I and II and hypochondrogenesis (in Spanish). Ann Esp Pediatr 13:889–900 Google Scholar 4.[link.springer.com] Achondrogenesis type 1A ; 52. Schneckenbecken Dysplasia ; 53. Opsismodysplasia ; Section IX Short-rib (-Polydactyly) Dysplasias ; 54.[bookdepository.com]

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

    Abstract Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity[ncbi.nlm.nih.gov] Together with our recent observation that a third even more severe chondrodysplasia, achondrogenesis type IB, is also caused by mutations in DTDST, these results demonstrate[ncbi.nlm.nih.gov] , including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis[ncbi.nlm.nih.gov]

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

    These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability.[ncbi.nlm.nih.gov] Abstract A 32-wk-gestation female with type II achondrogenesis-hypochondrogenesis has been studied.[ncbi.nlm.nih.gov] This interpretation implies that dominant mutations of the COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

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