Anemia, and Gastrointestinal hemorrhage

Diseases related with Anemia and Gastrointestinal hemorrhage

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


Top matches:

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III


Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III Is also known as anemia with multinucleated erythroblasts|erythroreticulosis, hereditary benign|congenital dyserythropoietic anemia type 3|cda type 3|dyserythropoietic anemia, congenital, type iii|cda iii|cda type iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Fatigue
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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

Low match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

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 NEUROENDOCRINE TUMOR OF STOMACH


Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

NEUROENDOCRINE TUMOR OF STOMACH Is also known as gnet|net of stomach|gastric net|gastric neuroendocrine tumor

Related symptoms:

  • Hepatomegaly
  • Weight loss
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Hepatic failure


SOURCES: ORPHANET MENDELIAN

More info about NEUROENDOCRINE TUMOR OF STOMACH

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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

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

Symptoms // Phenotype % cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Petechiae Uncommon - Between 30% and 50% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Iron deficiency anemia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Purpura Bruising susceptibility Epistaxis Abnormal bleeding

Rare Symptoms - Less than 30% cases


Splenomegaly Hyperbilirubinemia Absence of alpha granules Elevated hepatic transaminase Hepatomegaly Neoplasm Myelofibrosis Menorrhagia Abnormal thrombocyte morphology Ecchymosis Hemolytic anemia Gingival bleeding Heterotopia Ascites Diarrhea Headache Chronic noninfectious lymphadenopathy Nausea and vomiting Lymphadenopathy Anorexia Melena Paraganglioma Platelet antibody positive Internal hemorrhage Anisocytosis Prolonged bleeding time Elevated erythrocyte sedimentation rate Reticulocytosis Antinuclear antibody positivity Autoimmune hemolytic anemia Increased IgA level Vasculitis Increased antibody level in blood Leukoencephalopathy Abnormality of the cerebral white matter Abnormality of movement Inability to walk Gliosis Cerebral calcification Abnormality of extrapyramidal motor function Hemiparesis Leukodystrophy Hemiplegia Nephritis Loss of speech Abnormality of the vasculature Fever Hepatosplenomegaly Nephrotic syndrome Follicular hyperplasia Eosinophilia Urticaria Antiphospholipid antibody positivity Antineutrophil antibody positivity Malar rash Abnormal pulmonary valve cusp morphology Protracted diarrhea Bloody diarrhea Facial telangiectasia Cardiogenic shock Bronchospasm Zollinger-Ellison syndrome Lack of bowel sounds Bowel urgency Atypical pulmonary carcinoid tumor Hematemesis Dermatological manifestations of systemic disorders Hematuria 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 Intermittent diarrhea Increased serum serotonin Increased IgM level Smooth muscle antibody positivity Autoimmune neutropenia Increased IgG level Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Mental deterioration Decreased lymphocyte apoptosis Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased B cell count Increased circulating ACTH level Weight loss Hepatic failure Hypotension Palpitations Tricuspid regurgitation Poor appetite Episodic abdominal pain Carcinoid tumor Right ventricular failure Abnormal pyramidal sign Neutropenia Osteopenia Absent gallbladder Ketoacidosis Maternal diabetes Duodenal atresia Intestinal atresia Biliary atresia Pancreatic hypoplasia Meckel diverticulum Annular pancreas Anteriorly placed anus Diabetic ketoacidosis Acholic stools Jejunal atresia Short stature Proptosis Jaundice Pallor Severe intrauterine growth retardation Tracheoesophageal fistula Increased mean corpuscular volume Leiomyosarcoma Arrhythmia Abdominal pain Tachycardia Pulmonary infiltrates Pheochromocytoma Adrenocortical adenoma Mediastinal lymphadenopathy Gastrointestinal stroma tumor Hyperglycemia Adrenal overactivity Growth delay Intrauterine growth retardation Diabetes mellitus Malabsorption Sepsis Intestinal malrotation Macrocytic anemia Multiple myeloma Dystonia Cyclic neutropenia Falls Hypertension Abnormal blistering of the skin Intracranial hemorrhage Cerebral hemorrhage Thromboembolism Arterial thrombosis Intellectual disability Depressivity Seizures Global developmental delay Ataxia Spasticity Dysarthria Tremor Gait disturbance Anxiety Reduced prothrombin consumption Anemia of inadequate production Oral cavity bleeding Poikilocytosis Congenital hypoplastic anemia Erythroid hyperplasia Increased serum iron Abnormal erythrocyte morphology Abnormal cellular phenotype Post-partum hemorrhage Increased total iron binding capacity Abnormal platelet aggregation Abnormal proerythroblast morphology Abnormal erythroid lineage cell morphology Hemosiderinuria Hypospadias Patent ductus arteriosus Increased mean platelet volume Anisopoikilocytosis Abnormal platelet function Reduced quantity of Von Willebrand factor



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Abnormality of mitochondrial metabolism, related diseases and genetic alterations Delayed speech and language development and Hyporeflexia, related diseases and genetic alterations Cardiomyopathy and Congenital diaphragmatic hernia, related diseases and genetic alterations Cardiomyopathy and Facial palsy, related diseases and genetic alterations Muscle weakness and Nephrolithiasis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more