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4,089 Possible Causes for Mutation in the TMEM240 Gene, Short Stature

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[] The gene, TMEM240, has various mutations in eight SCA families.[] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[]

  • Helsmoortel-van der Aa Syndrome

    Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and[] The gene, TMEM240, has various mutations in eight SCA families.[] Growth failure leading to short stature is sometimes due to a growth hormone deficiency.[]

  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[] References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal[] skeletal dysplasias and intrauterine growth restriction without catch-up growth.[]

    Missing: Mutation in the TMEM240 Gene
  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[] stature.[] […] for their age during childhood and of short stature as an adult).[]

    Missing: Mutation in the TMEM240 Gene
  • Growth Hormone Deficiency

    We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone[] BACKGROUND: The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature[] More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial'[]

    Missing: Mutation in the TMEM240 Gene
  • Wolcott-Rallison Syndrome

    She was noted to have short stature at 8 years of age (height EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made.[] Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia.[] Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk).[]

    Missing: Mutation in the TMEM240 Gene
  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] ) above MPS VI Maroteaux–Lamy syndrome ARSB deficiency 253200 ARSB 5q14.1 N-acetylgalactosamine-4-sulfatase Dermatan sulfate Severe skeletal dysplasia, short stature, motor[] Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[]

    Missing: Mutation in the TMEM240 Gene
  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[] stature.[] stature, short digits, and heterotopic calcifications.[]

    Missing: Mutation in the TMEM240 Gene
  • Pseudohypoparathyroidism Type 1A

    This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications.[] Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO.[] We therefore hypothesized that patients with PHP type 1a may be GH deficient which could contribute to the obesity and short stature in this condition.[]

    Missing: Mutation in the TMEM240 Gene
  • MELAS Syndrome

    stature.[] Early development is usually normal except for short stature.[] stature, vomiting, headache, cortical blindness, deafness and dementia.[]

    Missing: Mutation in the TMEM240 Gene

Further symptoms

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