Congestive heart failure, and Colon cancer

Diseases related with Congestive heart failure and Colon cancer

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


Top matches:

High 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

High match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

High 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

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Other less relevant matches:

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match DESMOID TUMOR


A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Low 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

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 LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Low 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

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Top 5 symptoms//phenotypes associated to Congestive heart failure 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
Carcinoma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intestinal polyposis Anemia Gastrointestinal hemorrhage Seizures Stomach cancer Hematochezia Clubbing Hypoalbuminemia Stroke Hamartomatous polyposis Malabsorption Weight loss Hypertension

Rare Symptoms - Less than 30% cases


Gastrointestinal carcinoma Neuroblastoma Neoplasm of the skin Anxiety Ovarian neoplasm Neoplasm of the pancreas Pituitary adenoma Neoplasm of the breast Paresthesia Splenomegaly Pancreatic adenocarcinoma Depressivity Recurrent paroxysmal headache Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Flexion contracture Edema Hepatocellular carcinoma Vomiting Subcutaneous nodule Autoimmunity Nausea and vomiting Hepatomegaly Macrocephaly Hypokalemia Telangiectasia Failure to thrive Epistaxis Clubbing of fingers Jaundice Portal hypertension Diarrhea Chest pain Headache Desmoid tumors Ventriculomegaly Abdominal mass Dilatation Visual loss Epidermoid cyst Arrhythmia Fibroma Arthritis Joint hypermobility Mitral valve prolapse Abnormality of the abdominal wall Abnormality of extrapyramidal motor function Hemangioma Hemiparesis Pulmonary arteriovenous malformation Nail dystrophy Alopecia Cataract Muscle weakness Juvenile gastrointestinal polyposis Intrapulmonary shunt Hepatic arteriovenous malformation Respiratory distress Mitral regurgitation Cerebral arteriovenous malformation Cavernous hemangioma Arteriovenous malformation Aortic dissection Subarachnoid hemorrhage Iron deficiency anemia Aortic aneurysm Abnormality of the upper urinary tract Melena Abnormality of the musculature Histiocytosis Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Prolonged prothrombin time Chronic hepatic failure Cholangitis Cholestatic liver disease Ulcerative colitis Acute hepatic failure Uveitis Thyroiditis Amyloidosis Vitamin K deficiency Abnormal biliary tract morphology Intestinal obstruction Arthralgia Osteolysis Abnormality of skin pigmentation Limitation of joint mobility Sepsis Hydronephrosis Myalgia Adenocarcinoma of the large intestine Palmar telangiectasia Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Abnormality of retinal pigmentation Lymphedema Tapered finger Dysgraphia Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Leiomyosarcoma Amaurosis fugax Prostate cancer Abnormality of creatine metabolism Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Breast carcinoma Increased intracranial pressure Hallucinations Memory impairment Neoplasm of the skeletal system Neoplasm of the rectum Dyskinesia Gastrointestinal stroma tumor Paraganglioma of head and neck Glomus jugular tumor Extraadrenal pheochromocytoma Chemodectoma Episodic paroxysmal anxiety Pulsatile tinnitus Paraganglioma Cardiac diverticulum Pheochromocytoma Renal cell carcinoma Cranial nerve paralysis Palpitations Tachycardia Hyperhidrosis Urinary tract neoplasm Migraine Neurological speech impairment Nail dysplasia Aplasia/Hypoplasia of the eyebrow Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Sparse body hair Hypoplastic toenails Furrowed tongue Cachexia Abnormal intestine morphology Abnormality of the fingernails Hypocalcemia Hyperpigmentation of the skin Abnormality of the thyroid gland Anorexia Dystrophic toenail Dystrophic fingernails Attention deficit hyperactivity disorder Hypertonia Abnormal pyramidal sign Irritability Developmental regression Cryptorchidism Constipation Behavioral abnormality Gait disturbance Protein-losing enteropathy Dysarthria Visual impairment Muscular hypotonia Decreased taste sensation Glossitis Patchy alopecia Peripheral edema Celiac disease Cholelithiasis Generalized amyotrophy Profuse pigmented skin lesions Abnormality of circulating adrenocorticotropin level Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Blue nevus Intellectual disability Hepatocellular adenoma Pigmented micronodular adrenocortical disease Cardiac myxoma Histiocytoma Bronchogenic cyst Uterine neoplasm Nodular goiter Intra-oral hyperpigmentation Short stature Fibroadenoma of the breast Ventricular septal defect Glaucoma Abnormal heart morphology Thrombocytopenia Cyanosis Atrial septal defect Short neck Downslanted palpebral fissures Microcephaly Intrauterine growth retardation High palate Cleft palate Strabismus Micrognathia Hypertelorism Growth delay Vestibular Schwannoma Increased urinary cortisol level Cleft lip Cafe-au-lait spot Hemoptysis Increased circulating cortisol level Growth hormone excess Hypermelanotic macule Polycystic ovaries Rectal prolapse Hematemesis Polycythemia Nevus Sudden cardiac death Hirsutism Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Prolactin excess Neoplasm of the endocrine system Diplopia Pituitary prolactin cell adenoma Pituitary growth hormone cell adenoma Abnormal prolactin level Osteochondroma Thyroid adenoma Adrenocortical carcinoma Testicular neoplasm Hamartoma Thyroid carcinoma Enlarged polycystic ovaries Multiple lentigines Schwannoma Red hair Hypoplasia of the musculature Ovarian cyst Parathyroid adenoma Retrognathia Pallor Inflammation of the large intestine Transient erythroblastopenia Umbilical hernia Renal insufficiency Fever Cough Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Bifid thoracic vertebrae Osteoporosis Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Encephalopathy Dyspnea Parietal foramina Hepatitis Pleural effusion Intussusception Pancreatitis Type I diabetes mellitus Hepatic fibrosis Cholestasis Ascites Osteopenia Cirrhosis Pruritus Hernia Scarring Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Congenital hypoplastic anemia Unilateral cleft lip Abnormal cardiac septum morphology Webbed neck Bone marrow hypocellularity Hydrops fetalis Short thumb Depressed nasal ridge Pancytopenia Coarctation of aorta Premature birth Hypoplasia of the radius Neutropenia Nausea Cleft upper lip Vertigo Narrow chest Lethargy Leukemia Abnormal dermatoglyphics Abnormality of the hand Reticulocytopenia Thrombocytosis Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Macrocytic anemia Myelodysplasia Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Elevated urinary catecholamines



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