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23 Possible Causes for α-N-Acetylgalactosaminidase Protein Decreased or Absent, Telangiectasia on Lips and Oral Mucosa

  • Kanzaki Disease

    Summary Epidemiology Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Moroccan origin. Clinical description Extreme clinical variability has been reported. Cases of NAGA deficiency have been divided into 3[…][orpha.net]

  • Iron Deficiency

    Pigmentation of the lips and oral mucosa, which may suggest Peutz-Jeghers syndrome.[patient.info] Multiple telangiectasias, which may be a feature of hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome .[patient.info]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Coagulation Abnormalities

    People with this disorder have small red-to-violet telangiectatic lesions on the face, lips, oral and nasal mucosa, and tips of the fingers and toes.[msdmanuals.com] Hereditary hemorrhagic telangiectasia (also called Osler-Weber-Rendu Syndrome) is a hereditary disorder of vascular malformation.[msdmanuals.com]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Microcytic Anemia

    Pigmentation of the lips and oral mucosa, which may suggest Peutz-Jeghers syndrome.[patient.info] Multiple telangiectasias, which may be a feature of hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome.[patient.info]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Hemoptysis

    Telangiectasia, especially on the lips or buccal mucosa, may raise the diagnosis of hereditary hemorrhagic telangiectasia.[antimicrobe.org] Oral or genital ulcerations may be the initial presentation of a Beçhet disease. Calf tenderness may suggest the diagnosis of pulmonary embolism.[antimicrobe.org]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Pulmonary Arteriovenous Malformation

    Examine the lips, tongue, oral mucosa, and fingertips for small red spots.[evtoday.com] Telangiectasias are present in 90% of adult patients with HHT, usually beginning in their 20s and increasing with age.[evtoday.com]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Hereditary Hemorrhagic Telangiectasia

    Diagnosis HHT is a clinical diagnosis based on four features: Spontaneous, recurrent nosebleeds Telangiectasias of the lips, oral mucosa (inside the mouth), tongue, fingertips[texaschildrens.org] Skin and mucosa Telangiectasias of the skin and mucosa are common among patients with hereditary hemorrhagic telangiectasia and usually affect the face, lips, tongue, oral[cmaj.ca] Small red-to-violet lesions are found on the lips, oral and nasal mucosa, tongue, and tips of fingers and toes.[medical-dictionary.thefreedictionary.com]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Discoid Lupus Erythematosus

    Herein, we reported the first dermoscopic view for DLE affecting the lips and oral mucosa.[ncbi.nlm.nih.gov] Labial storiform telangiectasia could be a dermoscopic sign of coexisting SLE. 2018 The International Society of Dermatology.[ncbi.nlm.nih.gov]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Jejunal Vascular Anomaly with Hemorrhage

    Characteristic Mucocutaneous Telangiectasia Pictures and Photos of Hereditary Hemorrhagic Telangiectasias on his ears, face, lips, tongue, and oral and nasal mucosa.[gastrointestinalatlas.com] Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare genetically determined disorder that affects blood vessels throughout the body and results[gastrointestinalatlas.com] […] telangiectasias can be multiple and are found throughout the gastrointestinal tract, most commonly in the stomach and duodenum.( The severity of anemia is related to the number of telangiectasias[gastrointestinalatlas.com]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent
  • Hereditary Coagulopathy

    People with this disorder have small red-to-violet telangiectatic lesions on the face, lips, oral and nasal mucosa, and tips of the fingers and toes.[msdmanuals.com] Hereditary hemorrhagic telangiectasia (also called Osler-Weber-Rendu Syndrome) is a hereditary disorder of vascular malformation.[msdmanuals.com]

    Missing: α-N-Acetylgalactosaminidase Protein Decreased or Absent

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