Hepatomegaly, and Colon cancer

Diseases related with Hepatomegaly and Colon cancer

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

Top matches:

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

Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

FAMILIAL PANCREATIC CARCINOMA Is also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|fammmpc|familial pancreatic cancer

Related symptoms:

  • Neoplasm
  • Diabetes mellitus
  • Abdominal pain
  • Weight loss
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PANCREATIC CARCINOMA

High 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

Other less relevant matches:

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

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

BIRT-HOGG-DUBÉ SYNDROME Is also known as hornstein-knickenberg syndrome|fibrofolliculomas with trichodiscomas and acrochordons

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Papule
  • Renal cyst


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRT-HOGG-DUBÉ SYNDROME

Medium 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

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

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

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

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Intestinal polyposis Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Stomach cancer Sarcoma Abnormality of abdomen morphology Cafe-au-lait spot Multiple lipomas Intestinal polyp Epidermoid cyst Splenomegaly Fatigue Pain

Rare Symptoms - Less than 30% cases

Brain neoplasm Intellectual disability Cholangiocarcinoma Amyloidosis Pleural effusion Neoplasm of the pancreas Osteopenia Ascites Melanoma Lymphadenopathy Elevated hepatic transaminase Hepatosplenomegaly Jaundice Abnormality of retinal pigmentation Neoplasm of the skin Colorectal polyposis Glioma Fibroma Sepsis Osteolysis Intestinal obstruction Rhabdomyosarcoma Abdominal mass Desmoid tumors Leukemia Nephroblastoma Neurofibromas Multiple cafe-au-lait spots Acute lymphoblastic leukemia Astrocytoma Seizures Medulloblastoma Paresthesia Malabsorption Hyperpigmentation of the skin Abnormality of skin pigmentation Cataract Hypoalbuminemia Autoimmunity Anemia Anorexia Delayed skeletal maturation Glaucoma Clinodactyly of the 5th finger Protein-losing enteropathy Abnormal heart morphology Clinodactyly Hypothyroidism Microphthalmia Short nose Intellectual disability, mild Atrial septal defect Abnormality of cardiovascular system morphology High forehead Polyhydramnios Muscular dystrophy Triangular face Muscle weakness Wide nose Bulbous nose Long face Dolichocephaly Small for gestational age Deeply set eye Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Apnea Low-set, posteriorly rotated ears Ventriculomegaly Frontal bossing Ventricular septal defect Multiple gastric polyps Duodenal polyposis Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Osteoma Global developmental delay Fibroadenoma of the breast Multiple impacted teeth Adrenocortical carcinoma Absent gallbladder Chondrosarcoma Thoracic kyphoscoliosis Congenital hypertrophy of retinal pigment epithelium Short stature Abnormality of the skeletal system Low-set ears Dandy-Walker malformation Downslanted palpebral fissures Intrauterine growth retardation Epicanthus Depressed nasal bridge Cognitive impairment Cleft palate Generalized hypotonia Muscular hypotonia Abnormal facial shape Micrognathia Growth delay Microcephaly Hearing impairment Growth hormone deficiency Sloping forehead Hepatoblastoma Celiac disease Cholestatic liver disease Ulcerative colitis Acute hepatic failure Hepatocellular carcinoma Uveitis Thyroiditis Abnormality of the thyroid gland Prolonged prothrombin time Generalized amyotrophy Inflammation of the large intestine Portal hypertension Cholelithiasis Pancreatitis Type I diabetes mellitus Hepatic fibrosis Cholangitis Histiocytosis Hepatitis Elevated alkaline phosphatase of hepatic origin Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Palmar telangiectasia Vitamin D deficiency Abnormal biliary tract morphology Chronic hepatic failure Vitamin K deficiency Vitamin A deficiency Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Cholestasis Cirrhosis Ambiguous genitalia Aortic regurgitation Atrioventricular canal defect Aplasia/Hypoplasia of the cerebellum Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Abnormal lung lobation Microretrognathia Finger clinodactyly Multicystic kidney dysplasia Rhizomelia Depressed nasal ridge Short palpebral fissure Coarctation of aorta Abnormality of immune system physiology Abnormality of the skull Pruritus Congestive heart failure Scarring Abnormality of the liver Osteoporosis Encephalopathy Depressivity Renal insufficiency Fever Duodenal atresia Hypertension Vaginal neoplasm Premature chromatid separation Increased nuchal translucency Abnormal aortic morphology Subvalvular aortic stenosis Abnormality of the upper limb Keloids Neoplasm of the lung Papillary thyroid carcinoma Abnormality of blood and blood-forming tissues Multiple myeloma Vertebral compression fractures Elevated serum creatinine Spinal cord compression Acute kidney injury Sparse body hair Pathologic fracture Increased IgA level Increased antibody level in blood Generalized hyperpigmentation Hypercalcemia Bone pain Tall stature Nephrotic syndrome Prostate cancer Abnormality of the bladder Generalized muscle weakness Hypoplastic toenails Abnormality of the hair Clubbing Abnormal lung morphology Nevus Renal cyst Papule Aplasia/Hypoplasia of the eyebrow Increased IgG level Plasmacytoma Hyperproteinemia Paraproteinemia Abnormality of vitamin B12 metabolism Monoclonal immunoglobulin M proteinemia Functional abnormality of the gastrointestinal tract Decreased antibody level in blood Polyneuropathy Emphysema Furrowed tongue Breast carcinoma Hypomagnesemia Hematochezia Nausea and vomiting Dystrophic toenail Clubbing of fingers Diabetes mellitus Back pain Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Abnormality of the vasculature Squamous cell carcinoma Nephropathy Ovarian carcinoma Thromboembolism Pancreatic squamous cell carcinoma Peritoneal abscess Oropharyngeal squamous cell carcinoma Functional intestinal obstruction Pancreatic adenocarcinoma Extrahepatic cholestasis Poor appetite Intermittent diarrhea Intestinal pseudo-obstruction Neoplasm of the liver Chronic fatigue Xerostomia Exocrine pancreatic insufficiency Hypokalemia Cachexia Adrenocortical adenoma Vomiting Glioblastoma multiforme Ependymoma Neoplasm of the central nervous system Lisch nodules Macrocephaly Edema Diarrhea Gray matter heterotopias Alopecia Pituitary adenoma Hodgkin lymphoma Neuroblastoma Nail dystrophy Freckling Axillary freckling Acute myelomonocytic leukemia Hypermelanotic macule Precocious puberty Thyroid carcinoma Increased circulating cortisol level Dystrophic fingernails Increased number of teeth Agenesis of permanent teeth Chorioretinal atrophy Hyperextensible skin Adenocarcinoma of the colon Horseshoe kidney Infertility Carious teeth Intellectual disability, moderate Kyphoscoliosis Abnormality of the dentition Basal cell carcinoma Heterotopia Renal cell carcinoma Papillary renal cell carcinoma Salivary gland oncocytoma Fibrofolliculoma Cylindroma Spontaneous pneumothorax Pulmonary sequestration Clear cell renal cell carcinoma Abnormality of the fingernails Myalgia Medullary thyroid carcinoma Abnormal intestine morphology Pneumothorax Parathyroid adenoma Renal neoplasm Skin tags Arthralgia Hydronephrosis Lymphoma Abnormality of the abdominal wall Hypopigmentation of the skin Neutropenia Agenesis of corpus callosum Tapered finger Nail dysplasia Neoplasm of the breast Abnormality of the upper urinary tract Hypocalcemia Abnormality of the musculature Lymphedema Subcutaneous nodule Gastrointestinal hemorrhage Limitation of joint mobility Chest pain Adenocarcinoma of the large intestine


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