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34 Possible Causes for Affected Females Have Been Reported, Hematemesis, Muscular Atrophy

  • Hemophilia

    Although many hemophilia B carrier females do not have symptoms, an estimated 10-25% will develop mild symptoms and females have also been reported with moderate and severe[rarediseases.org] […] involvement include: • Fever • Abdominal distention and pain • Melena (bloody stool) • Hip flexion contracture (iliopsoas muscle spasm due to retroperitoneal hemorrhage) • Hematemesis[physio-pedia.com] […] cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS: Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes Gastrointestinal: Hematemesis[emedicine.com]

  • Factor VII Deficiency

    Although FVII gene mutations are extremely heterogeneous, several recurrent mutations have been reported, a few of them relatively frequent.[ncbi.nlm.nih.gov] Bleeding isolated to a single organ or system (eg, hematuria, hematemesis, hemoptysis) is less likely to be due to a hemostatic abnormality than to a local cause such as neoplasm[emedicine.medscape.com] In females, menorrhagia is prevalent and affects two thirds of the patients of fertile age.[ncbi.nlm.nih.gov]

  • Hemophilia B

    Thus the vast majority of affected individuals are males although rare females have been reported.[wohproject.org] Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes GI - Hematemesis[emedicine.medscape.com] Approximately four cases have been reported in the medical literature.[rarediseases.org]

  • Motor Neuron Disease

    Some MNDs, such as ALS and some forms of spinal muscular atrophy, are fatal.[ninds.nih.gov] In extremely rare cases, affected females have been reported. The incidence of Hunter syndrome is estimated at one in 100,000-150,000 male births.[rarediseases.org] Symptoms can include abdominal pain and vomiting of blood (hematemesis). Lesions can develop that cause a hole to form in the stomach or intestines (perforation).[rarediseases.org]

  • Plummer-Vinson Syndrome

    This is further supported by evidence of mitochondrial damage similar to progressive muscular dystrophy in pharyngeal muscles of mice with iron deficiency anemia.[dovepress.com] It is known to affect white female mainly but cases have been reported from other ethnic group in the literature.[ispub.com] She denied chest pain, dyspnea, abdominal pain, hematemesis, and had no history of reflux. Physical exam was unremarkable.[raredisorders.imedpub.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Atrophy, Type I 1 Spinal Muscular Atrophy, Type II 1 Spinal Muscular Atrophy, Type III 1 Spinal Muscular Atrophy, Type IV 1 Spinocerebellar Ataxia 21 1 Spinocerebellar Ataxia[preventiongenetics.com] Siblings of affected infants have a 1 in 4 chance of being affected by this disorder.[rarediseases.org] 【転移性石灰化】*metastatic calcification 【転移性腫瘍】*metastatic tumor 【転子下骨折】*subtrochanteric fracture (癲) 【癲癇】*epilepsy (ト) 【トリコチロマニー】*trichotilomania *trichologia ( 抜毛癖) (吐) 【吐血】*hematemesis[medo.jp]

  • Peutz-Jeghers Syndrome

    The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[invitae.com] Affected Populations Turcot syndrome affects males and females in equal numbers. Approximately 150 cases have been reported in the medical literature.[rarediseases.org] A 41-years-old woman complained of repeated, self-limited episodes of hematemesis. She presented with anaemia.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    atrophy P seudohypoparathyroidism R enal coloboma (Papillorenal) syndrome R etinoblastoma R othmund–Thomson syndrome R ubinstein–Taybi syndrome (CREBBP, EP300) S ilver–Russell[gfhev.de] It is an X-linked recessive condition and expected to be found in males, but on rare occasions, affected females have been reported.[symptoma.com] Symptoms can include abdominal pain and vomiting of blood (hematemesis). Lesions can develop that cause a hole to form in the stomach or intestines (perforation).[rarediseases.org]

  • Juvenile Polyp

    The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[invitae.com] To our knowledge, only 43 cases of JP affecting the stomach have been reported in the literature [ 14, 15, 16 ].[em-consulte.com] Spinal Muscular Atrophy, X-Linked Infantile Lisa Baumbach-Reardon, Stephanie J Sacharow, and Mary Ellen Ahearn.[ncbi.nlm.nih.gov]

  • Werner Syndrome

    atrophy and a tendency to diabetes mellitus, among others.[ncbi.nlm.nih.gov] However, there have been reports in the literature confirming that some affected males and females have reproduced.[rarediseases.org] We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome.[ncbi.nlm.nih.gov]

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