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Summary
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE (EDSHMB)
EHLERS-DANLOS SYNDROME, TYPE III EDS3
130020
OMIM = Online Medalian Inheritance of Men
285
rare
autosomal recessive
autosomal dominant


symptoms
behavior, anxiety
cardiac involvement, cardiac defects
fatigue, severe or unusual
gastrointestinal dysmotility
joint hypermobilty, dislocations
onset, adolescent
onset, childhood
onset, infancy
Osteoarthritis
pain, bones or joints
skin hyperelasticity
tachykardia
laboratory finding
Literature
Ioachimescu OC,Sieber S, Kotch AIdiopathic pulmonary haemosiderosis revisitedEur Respir J241162-1702004
Najada AS,Dahabreh MMPulmonary haemosiderosis in a 13-year-old girl with coeliac disease after 3 months on a gluten-free diet: case report and review of the literatureAnn Trop Paediatr303249-2532010
Tranebj+ªrg LDeafness-Dystonia-Optic Neuronopathy SyndromeGeneReviews-« Internet002013
Li YT,et al.Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosisAm J Emerg Med002017
Koker SA,et al.Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis?Hematol Rep9270482017
Siu KK,Li R, Lam SYUnexplained childhood anaemia: idiopathic pulmonary hemosiderosisHong Kong Med J212172-1742015
Agopiantz M,et al.Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literatureJ Endocrinol Invest3711-72014
Thaell JF,et al.Idiopathic pulmonary hemosiderosis: two cases in a familyMayo Clin Proc. 1978 Feb53(2):113-8.532113-1181978
Bahmad F Jr,et al.Otopathology in Mohr-Tranebjaerg syndromeLaryngoscope11771202-12082007
Bohlega SA,Alkuraya FSWoodhouse-Sakati SyndromeGeneReviews-« Internet002016
Tranebjaerg L,et al.A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22J Med Genet324257-2631995