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331 Possible Causes for Hypertrichosis of Eyebrows, Mucopolysaccharidosis 1H, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Mucopolysaccharidosis 1H
  • Fucosidosis

    Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene
  • 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]

    Missing: Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene
  • 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]

    Missing: Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene
  • 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 Mutation in the MLL Gene