Cardiomyopathy, and Colon cancer

Diseases related with Cardiomyopathy and Colon cancer

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


Top matches:

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 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

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

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Other less relevant matches:

Low 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 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3


COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 Is also known as colorectal cancer, susceptibility to, on chromosome 18

Related symptoms:

  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3

Low match BLOOD GROUP, VEL SYSTEM; VEL


The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by Daniels, 2002; Storry et al., 2013; Cvejic et al., 2013; Ballif et al., 2013).

Related symptoms:

  • Neoplasm
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, VEL SYSTEM; VEL

Low match POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2


Related symptoms:

  • Neoplasm
  • Colon cancer
  • Adenomatous colonic polyposis
  • Hyperplastic colonic polyposis
  • Juvenile colonic polyposis


SOURCES: MESH OMIM MENDELIAN

More info about POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2

Low match COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12


Colorectal cancer-12 is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}.

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 Is also known as colorectal cancer, susceptibility to, on chromosome 12q24

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Colon cancer
  • Colorectal polyposis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12

Low match HEREDITARY MIXED POLYPOSIS SYNDROME


Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.

HEREDITARY MIXED POLYPOSIS SYNDROME Is also known as crac1|chromosome 15q13-q14 duplication syndrome, 40-kb|hmps|colorectal adenoma and carcinoma 1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Colon cancer
  • Abnormality of abdomen morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MIXED POLYPOSIS SYNDROME

Low match DESMOPLASTIC/NODULAR MEDULLOBLASTOMA


Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nevus
  • Basal cell carcinoma
  • Colon cancer


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Pituitary adenoma Rare - less than 30% cases
Neoplasm of the pancreas Rare - less than 30% cases
Ovarian neoplasm Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Nevus Congestive heart failure Flexion contracture Fatigue Pancreatic adenocarcinoma Nausea and vomiting Basal cell carcinoma Gastrointestinal hemorrhage Stroke Anemia Atrial septal defect High palate Intrauterine growth retardation Visual field defect Downslanted palpebral fissures Ventricular septal defect Short neck Hemiplegia/hemiparesis Vomiting Edema Strabismus Thrombocytopenia Abnormal heart morphology Glaucoma Retrognathia Cleft lip Pallor Abnormal cardiac septum morphology Leukemia Lethargy Cleft palate Intestinal polyposis Micrognathia Abnormality of creatine metabolism Dysgraphia Amaurosis fugax Hepatocellular carcinoma Leiomyosarcoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Neoplasm of the skeletal system Neoplasm of the rectum Prostate cancer Cardiac diverticulum Urinary tract neoplasm Intellectual disability Narrow chest Microcephaly Growth delay Neuroblastoma Hypertelorism Failure to thrive Short stature Webbed neck Cleft upper lip Hypoplastic anemia Anemia of inadequate production Reticulocytopenia Unilateral cleft lip Parietal foramina Congenital hypoplastic anemia Everted upper lip vermilion Partial duplication of thumb phalanx Erythroid hypoplasia Branchial cyst Persistence of hemoglobin F Elevated red cell adenosine deaminase activity Aplastic anemia Bifid thoracic vertebrae Transient erythroblastopenia Hypoplastic coccygeal vertebrae Hypoplastic sacral vertebrae Adenomatous colonic polyposis Hyperplastic colonic polyposis Juvenile colonic polyposis Colorectal polyposis Abnormality of abdomen morphology Brain neoplasm Medulloblastoma Increased mean corpuscular volume 11 pairs of ribs Nausea Hypoplasia of the radius Neutropenia Premature birth Increased intracranial pressure Coarctation of aorta Pancytopenia Depressed nasal ridge Short thumb Hydrops fetalis Bone marrow hypocellularity Abnormal dermatoglyphics Abnormality of the hand Osteosarcoma Myelodysplasia Triphalangeal thumb Delayed cranial suture closure Congenital glaucoma Vertebral fusion Absent thumb Myeloid leukemia Acute myeloid leukemia Macrocytic anemia Thrombocytosis Hypoplastic ilia Breast carcinoma Neurological speech impairment Hallucinations Growth hormone excess Intrapulmonary shunt Juvenile gastrointestinal polyposis Hirsutism Sudden cardiac death Subcutaneous nodule Cafe-au-lait spot Neoplasm of the skin Polycystic ovaries Hypermelanotic macule Increased circulating cortisol level Pulmonary arteriovenous malformation Prolactin excess Neoplasm of the endocrine system Thyroid carcinoma Parathyroid adenoma Ovarian cyst Stomach cancer Hypoplasia of the musculature Red hair Schwannoma Multiple lentigines Hepatic arteriovenous malformation Gastrointestinal carcinoma Neoplasm of the breast Mitral regurgitation Ventriculomegaly Dilatation Visual loss Arrhythmia Arthritis Joint hypermobility Mitral valve prolapse Abnormality of extrapyramidal motor function Epistaxis Hemiparesis Telangiectasia Cerebral arteriovenous malformation Hemangioma Aortic aneurysm Clubbing Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Hematochezia Arteriovenous malformation Cavernous hemangioma Hamartomatous polyposis Enlarged polycystic ovaries Pituitary prolactin cell adenoma Memory impairment Constipation Intra-oral hyperpigmentation Seizures Muscular hypotonia Visual impairment Dysarthria Gait disturbance Hypertonia Behavioral abnormality Depressivity Abdominal pain Thyroid follicular hyperplasia Weight loss Anxiety Developmental regression Irritability Abnormal pyramidal sign Attention deficit hyperactivity disorder Malabsorption Paresthesia Dyskinesia Migraine Abnormality of circulating adrenocorticotropin level Sertoli cell neoplasm Testicular neoplasm Nodular goiter Adrenocortical carcinoma Thyroid adenoma Osteochondroma Recurrent paroxysmal headache Abnormal prolactin level Pituitary growth hormone cell adenoma Adrenal pheochromocytoma Increased urinary cortisol level Fibroadenoma of the breast Vestibular Schwannoma Hypertension associated with pheochromocytoma Pigmentation of the sclera Uterine neoplasm Bronchogenic cyst Histiocytoma Cardiac myxoma Pigmented micronodular adrenocortical disease Hepatocellular adenoma Blue nevus Profuse pigmented skin lesions Peripheral Schwannoma Abnormal pigmentation of the oral mucosa Cerebellar medulloblastoma



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