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8,897 Possible Causes for Anemia, Muscle Hypotonia, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[en.wikipedia.org] Showing of 26 5%-29% of people have these symptoms Hemolytic anemia 0001878 Membranoproliferative glomerulonephritis 0000793 Percent of people who have these symptoms is not[rarediseases.info.nih.gov] SEC23B-CDG – The mutation of the SEC23B gene causes a disorder known as congenital dyserythropoietic anemia type 2 (or HEMPAS).[rarediseases.org]

  • Celiac Disease

    anemia.[ncbi.nlm.nih.gov] The child has failure to thrive, apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[merckmanuals.com] Celiac disease may present with hematological abnormalities including long-standing anemia.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    A CELLULE FALCIFORMI ANEMIA CONGENITA DISERITROPOIETICA ANEMIA DI FANCONI ANEMIA SIDEROBLASTICA ANGELMAN SINDROME DI ANGIOEDEMA DI QUINCK ANGIOMA ANOMALIA MITRALICA CONGENITA[birdfoundation.org] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Wolman Disease

    […] responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia[ncbi.nlm.nih.gov] In this report, the most common presenting symptom was hypotonia (75%), and muscle weakness was a presenting symptom in 59% of patients.[emedicine.medscape.com] Later, severe anemia and cachexia become apparent.[orpha.net]

    Missing: UDP-GlcNAc Decreased
  • Acute Hepatic Porphyria

    Four new chapters cover anemias unique to the newborn period, pathology of LHC and other histiocytic disorders, tumors of the spleen, and pathology and classification of myeloproliferative[books.google.com] E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias[icd10data.com] Manifestations of porphyria include gastrointestinal, neurologic, and psychologic symptoms, cutaneous photosensitivity, pigmentation of the face (and later of the bones), and anemia[medical-dictionary.thefreedictionary.com]

    Missing: UDP-GlcNAc Decreased
  • Niemann-Pick Disease

    NPC1-depleted embryos presented with thrombocytopenia and mild anemia as studied by flow cytometry and real-time QPCR for specific blood cell markers.[ncbi.nlm.nih.gov] […] tone (hypotonia) Episodes of lactic acidosis (accumulation of lactic acid in the body and brain) that may impair breathing and kidney function Heart problems Diagnosis Diagnosis[rarediseases.about.com] Other examples include the defective gene that causes sickle cell anemia.[geneticliteracyproject.org]

    Missing: UDP-GlcNAc Decreased
  • Propionic Acidemia

    Anemia was corrected, and the growth rate and mental development improved significantly.[ncbi.nlm.nih.gov] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Commonly reported findings included seizures, arrhythmia, leucopenia, and anemia. Developmental and cognitive disabilities were reported in the majority of individuals.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hypophosphatasia

    Relatively few conditions are associated with a low serum alkaline phosphatase including Wilson's disease, hypophosphatasia, pernicious anemia and untreated hypothyroidism[ncbi.nlm.nih.gov] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Three clinical types are recognized: [1] infantile (symptoms beginning between birth and 6 months and characterized by severe softening of bones, fever, anemia, vomiting,[annals.org]

    Missing: UDP-GlcNAc Decreased
  • Lesch Nyhan Syndrome

    Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.[ninds.nih.gov] […] tone or soft muscles (hypotonia).[thinkgenetic.com] 2016 2017 2018 2019 Billable/Specific Code Applicable To Amino-acid deficiency anemia Orotaciduric anemia Type 1 Excludes Lesch-Nyhan syndrome ( E79.1 ) Arthropathy M12.9[icd10data.com]

    Missing: UDP-GlcNAc Decreased
  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    Causes of Microcytic Anemia Is It Anemia? Is It Microcytic?[pedsinreview.aappublications.org] hypotonia, hepatomegaly and coma.[malacards.org] This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy).[oaanews.org]

    Missing: UDP-GlcNAc Decreased

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