Ataxia, and Colon cancer

Diseases related with Ataxia and Colon cancer

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


Top matches:

Medium match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

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 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 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 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 Ataxia and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Rare - less than 30% cases
Basal cell carcinoma Rare - less than 30% cases
Pancreatic adenocarcinoma Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Ovarian neoplasm Breast carcinoma Neoplasm of the pancreas Telangiectasia Weight loss Abdominal pain Fatigue Migraine Hepatocellular carcinoma Neuroblastoma Visual field defect Anxiety Hemiplegia/hemiparesis Increased intracranial pressure Hallucinations Memory impairment Paresthesia Dyskinesia Abnormal pyramidal sign Nausea and vomiting Malabsorption Neurological speech impairment Intestinal polyposis Attention deficit hyperactivity disorder Developmental regression Irritability Pituitary adenoma Prostate cancer Cardiac diverticulum Medulloblastoma Brain neoplasm Nevus Abnormality of abdomen morphology Colorectal polyposis Juvenile colonic polyposis Hyperplastic colonic polyposis Adenomatous colonic polyposis Urinary tract neoplasm Neoplasm of the rectum Dysgraphia Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Depressivity Glioblastoma multiforme Leiomyosarcoma Amaurosis fugax Constipation Muscular hypotonia Behavioral abnormality Dilatation Epistaxis Abnormality of extrapyramidal motor function Mitral valve prolapse Joint hypermobility Stroke Arthritis Arrhythmia Visual loss Ventriculomegaly Mitral regurgitation Anemia Increased level of L-fucose in urine Chronic pancreatitis Exocrine pancreatic insufficiency Melanoma Pancreatitis Jaundice Diabetes mellitus Pain Hemiparesis Hemangioma Hypertonia Pulmonary arteriovenous malformation Gait disturbance Dysarthria Visual impairment Flexion contracture Seizures Juvenile gastrointestinal polyposis Intrapulmonary shunt Hepatic arteriovenous malformation Gastrointestinal carcinoma Aortic aneurysm Cerebral arteriovenous malformation Hamartomatous polyposis Cavernous hemangioma Arteriovenous malformation Hematochezia Aortic dissection Subarachnoid hemorrhage Iron deficiency anemia Clubbing Cerebellar medulloblastoma



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