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243 Possible Causes for Hypertrichosis of Eyebrows, Mucopolysaccharidosis 1H

  • Fucosidosis

    Return to The Medical Biochemistry Page 1996–2019 themedicalbiochemistrypage.org, LLC info @ themedicalbiochemistrypage.org Fucosidosis belongs to a family of disorders identified as lysosomal storage diseases. Fucosidosis is an autosomal recessive disorder that results from deficiencies in the fucosidase, alpha-L-1[…][themedicalbiochemistrypage.org]

  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • Mucopolysaccharidosis 7

    1H/S (IDUA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis 2 (IDS) * Sequencing (complete) & MLPA EDTA blood 2-3 weeks Mucopolysaccharidosis 3A[diagenom.de] Sequencing (complete) EDTA blood / DNA 1. 1-2weeks 2. 2-3weeks Metachromatic Leukodystrophy (ARSA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis[diagenom.de]

    Missing: Hypertrichosis of Eyebrows
  • Marshall-Smith Syndrome

    Lysosomal storage diseases with skeletal involvement (dysostosis multiplex group) Mucopolysaccharidosis type 1H/1SAR6070144p16.3 IDA Alpha-1-Iduronidase Mucopolysaccharidosis[onlinelibrary.wiley.com]

  • Mucopolysaccharidosis 6

    Mucopolysaccharidosis type 6 (MPS6) or Maroteaux Lamy syndrome is a rare autosomal recessive disorder characterized by the accumulation of mucopolysaccharides in connective tissues as a result of the reduced or absent activity of the lysosomal enzyme arylsulfatase B (ASB). This is a progressive disorder that[…][symptoma.com]

    Missing: Hypertrichosis of Eyebrows
  • Mucopolysaccharidosis 1S

    Mucopolysaccharidosis 5 is nowadays referred to as mucopolysaccharidosis 1S or Scheie syndrome. Mucopolysaccharidosis 5 is now classified as a form of mucopolysaccharidosis 1, referred to as mucopolysaccharidosis 1S (MPS1S) or Scheie syndrome. MPS1S is the mildest form of mucopolysaccharidosis 1.[symptoma.com]

    Missing: Hypertrichosis of Eyebrows
  • Mucopolysaccharidosis 3

    Summary Epidemiology The disorder is underdiagnosed (due to the generally very mild dysmorphism); it is the most frequent MPS in the Netherlands and Australia with respective prevalences of 1/53 0000 and 1/67 000. The frequency of the different subtypes varies between countries: subtype A is more frequent in[…][orpha.net]

    Missing: Hypertrichosis of Eyebrows
  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    To present a case of spondyloepiphyseal dysplasia (SED) tarda in a 14-yr-old boy. The patient suffered from chronic bilateral hip pain and range of movement was decreased. Radiographic examination showed findings consistent with skeletal dysplasia tarda. The patient was given specific stretching exercises and[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • Mucopolysaccharidosis 1H

    Mucopolysaccharidosis type 1H (MPS1H), also known as Hurler syndrome, Hurler's disease or gargoylism, is the most severe form of mucopolysaccharidosis type 1.[symptoma.com]

    Missing: Hypertrichosis of Eyebrows

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