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815 Possible Causes for Anemia, Congenital Pain Insensitivity

  • Gastrointestinal Neoplasm

    These polyps may ulcerate and erode the overlying mucosa, bleed, and cause chronic anemia.[emedicine.medscape.com] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] A slowly bleeding tumor may lead to anemia. Digested blood may cause the stool to become black or tarry.[cancercenter.com]

  • Thrombocytopenia

    The anemia was secondary to chronic blood loss due to ulceration at the site of an ileocolonic anastomosis performed during infancy.[ncbi.nlm.nih.gov] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] Those with severe hydrops fetalis (see this term) related anemia will need an in utero transfusion and transfusions can be required after birth for those with severe anemia[orpha.net]

  • Hypogonadotropic Hypogonadism

    There is also an improvement in sexual symptoms, anemia, LDL cholesterol, and lipoprotein (a).[ncbi.nlm.nih.gov] More than 100 pathogenic variants in the SCN9A gene have been reported (HGMD Professional 2017.1), associated with congenital insensitivity to pain (28/1049, erythromelalgia[centogene.com] In general, HH may be associated with mild anemia, but this condition does rarely cause any symptoms.[symptoma.com]

  • Channelopathy-Associated Congenital Insensitivity to Pain

    Complete hemogram revealed iron deficiency anemia. Other hematological and biochemical investigations including serum uric acid levels were normal.[e-ijd.org] Congenital pain insensitivity is a rare genetic disorder characterized by the inability to perceive pain.[symptoma.com] Interestingly, tight control of the patient's diabetes does not improve NL 5 Reply get MRI spine renal function test full neurology examination 0 Reply ️SICKLE CELL ANEMIA[dailyrounds.org]

  • Pyruvate Kinase Deficiency

    Pyruvate kinase deficiency is a rare cause of hemolytic anemia and, in its most severe form, requires splenectomy in childhood.[ncbi.nlm.nih.gov] Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat),[ncbi.nlm.nih.gov] Hemolytic anemia due to deficiency of erythrocytic pyruvate kinase is a rare autosomal recessive disorder.[ncbi.nlm.nih.gov]

  • Amegakaryocytic Thrombocytopenia

    We report a case of acquired amegakaryocytic thrombocytopenia which, despite aggressive immunosuppressive treatment, rapidly progressed to aplastic anemia.[ncbi.nlm.nih.gov] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors :[wikiwand.com] […] thrombocytopenia (AAT), a rare entity characterized by severe thrombocytopenia and the absence of megakaryocytes in the bone marrow, may mimic or precede the diagnosis of aplastic anemia[ncbi.nlm.nih.gov]

  • Autosomal Recessive Osteopetrosis Type 7

    AR 191 677 FANCB Fanconi anemia XL 11 21 FANCC Fanconi anemia AR 94 64 FANCD2 * Fanconi anemia AR 21 61 FANCE Fanconi anemia AR 4 17 FANCF Fanconia anemia AR 7 16 FANCG Fanconi[blueprintgenetics.com] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[ipfs.io] Congenital hypoplastic anaemia Congenital insensitivity to pain Congenital myasthenia -- Congenital myotonia Congenital spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia[socialstyrelsen.se]

  • Juvenile Polyposis Syndrome

    In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia.[ncbi.nlm.nih.gov] Congenital Insensitivity to Pain with Anhidrosis Yasuhiro Indo. Initial Posting: August 5, 2008; Last Update: April 17, 2014.[ncbi.nlm.nih.gov] A 27-year-old woman presented in 2005 with severe anemia. Gastroscopy revealed severe gastric polyposis. Histopathology confirmed juvenile polyposis.[ncbi.nlm.nih.gov]

  • Roy-Maroteaux-Kremp Syndrome

    Syndrome Tetrasomy X Thai Symphalangism Syndrome Thakker Donnai Syndrome THAUVIN-ROBINET-FAIVRE SYNDROME Theodor Hertz Goodman Syndrome thiamine-responsive megaloblastic anemia[rgd.mcw.edu] […] dystrophy with cataracts and intellectual disability Congenital Pain Insensitivity Congenital Symmetric Circumferential Skin Creases Conn's syndrome Contiguous Abcd1/Dxs1375e[rgd.mcw.edu] FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Congenital Hypoplastic Anemia[rgd.mcw.edu]

  • LIG4 Syndrome

    The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi disease (Fanconi anemia).[humpath.com] […] to pain, congenital, with anhidrosis 256800 N UP62 19q13.33 Striatonigral degeneration, infantile 271930 N XF5 Xq22.1 Nuclear RNA export factor 5 300319 O CRL Xq25-q26 Dent[institutobernabeu.com] anemia: a joint Seattle and Paris analysis of results in 700 patients.[springermedizin.de]

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