Anemia, and Colon cancer

Diseases related with Anemia and Colon cancer

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


Top matches:

Medium match HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME


Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.

HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME Is also known as familial platelet disorder with associated myeloid malignancy|thrombocytopenia, autosomal dominant, 5|fps/aml syndrome|fpd/aml syndrome|familial platelet syndrome with predisposition to acute myelogenous leukemia|thrombocytopenia 5 with increased suscepti

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY THROMBOCYTOPENIA WITH NORMAL PLATELETS-HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME

Medium match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Medium match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

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Other less relevant matches:

Medium 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

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low match PEUTZ-JEGHERS SYNDROME


Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.

PEUTZ-JEGHERS SYNDROME Is also known as hamartomatous intestinal polyposis|polyps and spots syndrome|pjs

Related symptoms:

  • Neoplasm
  • Anemia
  • Vomiting
  • Abdominal pain
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

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

Top 5 symptoms//phenotypes associated to Anemia and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Stomach cancer Hematochezia Weight loss Hamartomatous polyposis Epistaxis Clubbing Gastrointestinal carcinoma

Rare Symptoms - Less than 30% cases


Hypoalbuminemia Congestive heart failure Hypokalemia Nausea and vomiting Intestinal polyposis Failure to thrive Intestinal obstruction Pallor Splenomegaly Neoplasm of the colon Paresthesia Neoplasm of the rectum Neoplasm of the small intestine Esophageal neoplasm Telangiectasia Clubbing of fingers Multiple myeloma Thrombocytopenia Leukemia Diarrhea Neutropenia Edema Myelodysplasia Macrocephaly Rectal prolapse Increased mean corpuscular volume Seizures Hyperpigmentation of the skin Stroke Delayed cranial suture closure Acute myeloid leukemia Abnormal dermatoglyphics Hypoplasia of the radius Absent thumb Abnormality of the hand Myeloid leukemia Triphalangeal thumb Hypoplastic ilia Vertebral fusion Osteosarcoma Macrocytic anemia Congenital glaucoma Aplastic anemia Thrombocytosis 11 pairs of ribs Bone marrow hypocellularity Premature birth Hydrops fetalis Atrial septal defect Microcephaly Growth delay Hypertelorism Micrognathia Strabismus Cleft palate Flexion contracture High palate Intrauterine growth retardation Downslanted palpebral fissures Ventricular septal defect Short neck Abnormal heart morphology Short thumb Glaucoma Retrognathia Cleft lip Abnormal cardiac septum morphology Lethargy Narrow chest Cleft upper lip Nausea Webbed neck Coarctation of aorta Pancytopenia Depressed nasal ridge Anemia of inadequate production Hypoplastic anemia Reticulocytopenia Urticaria Abnormal pigmentation of the oral mucosa Cervix cancer Neoplasm of the nose Fever Dysphagia Constipation Coarse facial features Abnormality of the liver Skin rash Abdominal distention Eosinophilia Sarcoma Large hands Biliary tract neoplasm Hypermelanotic macule Neurofibromas Irregular hyperpigmentation Lipoma Paraganglioma Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the stomach Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Melanonychia Abnormality of the gallbladder Unilateral cleft lip Hypoplastic sacral vertebrae Parietal foramina Congenital hypoplastic anemia Everted upper lip vermilion Partial duplication of thumb phalanx Erythroid hypoplasia Branchial cyst Persistence of hemoglobin F Intellectual disability Elevated red cell adenosine deaminase activity Bifid thoracic vertebrae Transient erythroblastopenia Hypoplastic coccygeal vertebrae Breast carcinoma Pancreatic adenocarcinoma Macule Abnormality of the ureter Renal cell carcinoma Neoplasm of the lung Multiple renal cysts Abnormality of the respiratory system Abnormality of the gastrointestinal tract Abnormality of the nose Nasal polyposis Enlarged polycystic ovaries Multiple lentigines Gastrointestinal infarctions Arteriovenous fistula Short stature Jaundice Hepatic vascular malformations Increased antibody level in blood Osteopenia Lymphadenopathy Nephropathy Polyneuropathy Generalized muscle weakness Decreased antibody level in blood Nephrotic syndrome Tall stature Bone pain Hypercalcemia Pleural effusion Pathologic fracture Intrapulmonary shunt Abnormality of blood and blood-forming tissues Amyloidosis Acute kidney injury Spinal cord compression Neoplasm of the pancreas Elevated serum creatinine Vertebral compression fractures Prostate cancer Increased IgA level Abnormality of the bladder Increased IgG level Functional abnormality of the gastrointestinal tract Juvenile gastrointestinal polyposis Hepatic arteriovenous malformation Abnormality of vitamin B12 metabolism Arthritis Bruising susceptibility Abnormal bleeding Neoplasm of the skin Menorrhagia Petechiae Acute lymphoblastic leukemia Acute leukemia Chronic myelomonocytic leukemia Ventriculomegaly Dilatation Visual loss Arrhythmia Joint hypermobility Pulmonary arteriovenous malformation Mitral valve prolapse Abnormality of extrapyramidal motor function Hemiparesis Mitral regurgitation Hemangioma Aortic aneurysm Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Arteriovenous malformation Cavernous hemangioma Cerebral arteriovenous malformation Monoclonal immunoglobulin M proteinemia Paraproteinemia Adenocarcinoma of the colon Cough Patchy alopecia Glossitis Decreased taste sensation Cryptorchidism Hypertension Respiratory distress Headache Hernia Dyspnea Umbilical hernia Carcinoma Vertigo Protein-losing enteropathy Chest pain Cyanosis Diplopia Portal hypertension Hamartoma Polycythemia Hemoptysis Hematemesis Melena Intussusception Multiple gastric polyps Duodenal adenocarcinoma Peripheral edema Dystrophic fingernails Hyperproteinemia Lymphedema Plasmacytoma Muscle weakness Cataract Hepatomegaly Alopecia Autoimmunity Nail dystrophy Malabsorption Abnormality of skin pigmentation Tapered finger Nail dysplasia Anorexia Hypocalcemia Furrowed tongue Abnormality of the fingernails Abnormal intestine morphology Cachexia Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Sparse body hair Generalized hyperpigmentation Thromboembolism Xerostomia Abnormality of the vasculature Hypomagnesemia Dystrophic toenail Giant hypertrophic gastritis



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