Autoimmunity, and Gastrointestinal hemorrhage

Diseases related with Autoimmunity and Gastrointestinal hemorrhage

In the following list you will find some of the most common rare diseases related to Autoimmunity and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.


Top matches:

Low match IMMUNE THROMBOCYTOPENIC PURPURA


Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.

IMMUNE THROMBOCYTOPENIC PURPURA Is also known as idiopathic thrombocytopenic purpura|immune thrombocytopenia|immune thrombocytopenic purpura|thrombocytopenic purpura, autoimmune|itp

Related symptoms:

  • Immunodeficiency
  • Thrombocytopenia
  • Autoimmunity
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNE THROMBOCYTOPENIC PURPURA

Low match VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

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Other less relevant matches:

Low match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Low match GRAY PLATELET SYNDROME; GPS


The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.

GRAY PLATELET SYNDROME; GPS Is also known as bleeding disorder, platelet-type, 4|bdplt4|platelet alpha-granule deficiency

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Skin rash
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about GRAY PLATELET SYNDROME; GPS

Low match CONGENITAL FACTOR X DEFICIENCY


Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.

CONGENITAL FACTOR X DEFICIENCY Is also known as f10 deficiency|congenital stuart factor deficiency|stuart-prower factor deficiency

Related symptoms:

  • Respiratory tract infection
  • Abnormality of the liver
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FACTOR X DEFICIENCY

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Bruising susceptibility Common - Between 50% and 80% cases
Epistaxis Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Petechiae Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Gastrointestinal hemorrhage. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autoimmune thrombocytopenia Abnormal bleeding Purpura Menorrhagia Splenomegaly Skin rash Hepatomegaly Prolonged bleeding time Platelet antibody positive Fatigue Gingival bleeding Thromboembolism Hematuria

Rare Symptoms - Less than 30% cases


Intracranial hemorrhage Internal hemorrhage Absence of alpha granules Fever Immunodeficiency Pain Hemolytic anemia Abnormal intestine morphology Elevated erythrocyte sedimentation rate Autoimmune hemolytic anemia Myelofibrosis Antiphospholipid antibody positivity Abnormality of the liver Hematochezia Antinuclear antibody positivity Nail dystrophy Alopecia Xerostomia Abnormal thrombocyte morphology Ecchymosis Diarrhea Joint hemorrhage Cerebral hemorrhage Arterial thrombosis Aplasia/Hypoplasia of the eyebrow Calcinosis cutis Hypoalbuminemia Clubbing Palmar telangiectasia Hypoplastic toenails Sparse body hair Lip telangiectasia Colon cancer Cachexia Generalized hyperpigmentation Abnormality of the vasculature Hypomagnesemia Dystrophic toenail Clubbing of fingers Furrowed tongue Hypokalemia Hypocalcemia Generalized abnormality of skin Edema Weight loss Intestinal polyposis Malabsorption Paresthesia Vomiting Abnormality of skin pigmentation Tapered finger Nail dysplasia Macrocephaly Abnormality of the fingernails Anorexia Cataract Muscle weakness Neoplasm Lymphedema Seizures Hyperpigmentation of the skin Abdominal pain Dystrophic fingernails Small for gestational age Protein-losing enteropathy Intestinal atresia Absent eyebrow Combined immunodeficiency Thyroiditis Hashimoto thyroiditis Alopecia of scalp Severe combined immunodeficiency Abnormality of abdomen morphology Duodenal atresia Hypoplasia of the thymus Ectopic calcification Psoriasiform dermatitis Duodenal stenosis Bloody diarrhea Microcolon Rectal abscess Jejunal atresia Gastrointestinal atresia Decreased proportion of CD8-positive T cells Jejunoileal ulceration Congenital cystic adenomatoid malformation of the lung Peritoneal abscess Inflammation of the large intestine Type I diabetes mellitus Stomach cancer Polyhydramnios Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Decreased taste sensation Growth delay Intrauterine growth retardation Abnormality of the skeletal system Ventricular septal defect Sparse hair Lymphopenia Scarring Mucosal telangiectasiae Anal atresia Abdominal distention Sepsis Intestinal malrotation Decreased antibody level in blood Hepatitis Omphalocele Thickened skin Sclerodactyly Cirrhosis Abnormality of the gastric mucosa Chronic noninfectious lymphadenopathy Lymphadenopathy Nephrotic syndrome Vasculitis Eosinophilia Urticaria Nephritis Increased antibody level in blood Iron deficiency anemia Reticulocytosis Increased IgA level Cyclic neutropenia Follicular hyperplasia Malar rash Increased IgM level Autoimmune neutropenia Increased IgG level Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Antineutrophil antibody positivity Hepatosplenomegaly Abnormal blistering of the skin Increased proportion of HLA DR+ T cells Hypospadias Mitral valve prolapse Aortic valve stenosis Abnormality of the genitourinary system Systemic lupus erythematosus Impaired platelet aggregation Reduced factor VIII activity Prolonged bleeding after surgery Gastrointestinal angiodysplasia Prolonged whole-blood clotting time Patent ductus arteriosus Neutropenia Heterotopia Anisocytosis Increased mean platelet volume Anisopoikilocytosis Abnormal platelet function Abnormal platelet aggregation Reduced prothrombin consumption Depressivity Anxiety Falls Decreased lymphocyte apoptosis Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Lichenification Encephalitis Elevated hepatic transaminase Myalgia Arthritis Pruritus Ascites Cholestasis Telangiectasia Skin ulcer Hyperbilirubinemia Elevated alkaline phosphatase Gastroesophageal reflux Steatorrhea Telangiectasia of the skin Scleroderma Keratoconjunctivitis sicca Irregular hyperpigmentation Raynaud phenomenon Calcinosis Esophageal varix Biliary cirrhosis Jaundice Respiratory insufficiency Smooth muscle antibody positivity Respiratory tract infection Increased B cell count Deep venous thrombosis Extramedullary hematopoiesis Myeloproliferative disorder Decreased platelet glycoprotein IIb-IIIa Impaired collagen-induced platelet aggregation Reduced von Willebrand factor activity Impaired thrombin-induced platelet aggregation Reduced quantity of Von Willebrand factor Abnormality of the coagulation cascade Dysphagia Abnormality of coagulation Abnormality of the musculature Arthropathy Amyloidosis Prolonged partial thromboplastin time Prolonged prothrombin time Spontaneous hematomas Intramuscular hematoma Lupus anticoagulant Reduced factor X activity Abnormality of the ductus choledochus



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