Hepatomegaly, and Melanoma

Diseases related with Hepatomegaly and Melanoma

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

Top matches:

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

Low match OVARIAN CANCER

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Other less relevant matches:

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

Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BUDD-CHIARI SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Melanoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Abdominal pain Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Ascites Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Weight loss Nausea and vomiting Nausea Jaundice Cirrhosis Splenomegaly Hepatocellular carcinoma Sarcoma Fever Gastrointestinal hemorrhage Lymphadenopathy

Rare Symptoms - Less than 30% cases

Vomiting Carious teeth Constipation Gastroesophageal reflux Neoplasm of the lung Hyperkeratosis Abdominal distention Ovarian neoplasm Respiratory distress Epidermoid cyst Cognitive impairment Stomach cancer Intestinal obstruction Myocardial infarction Fatigue Neoplasm of the pancreas Back pain Squamous cell carcinoma Colon cancer Palmoplantar keratoderma Poor appetite Breast carcinoma Oral leukoplakia Abdominal mass Hepatitis Ovarian carcinoma Abnormality of the dentition Elevated hepatic transaminase Neoplasm of the central nervous system Abnormality of the nail Abnormality of the peritoneum Gastrointestinal obstruction Testicular neoplasm Alopecia Cataract Respiratory insufficiency Hyperhidrosis Nail dystrophy Abnormality of the hair Abnormal blistering of the skin Ichthyosis Intermittent jaundice Mediastinal lymphadenopathy Giant cell hepatitis Diarrhea Pruritus Coma Cholestasis Elevated alkaline phosphatase Intrahepatic cholestasis Conjugated hyperbilirubinemia Fat malabsorption Corneal dystrophy Abnormality of the liver Ileus Glomerulonephritis Membranoproliferative glomerulonephritis Dark urine Chronic infection Membranous nephropathy Acute hepatitis Fulminant hepatitis Anemia Cachexia Abnormality of the fingernails Thickened skin Laryngomalacia Polycythemia Esophageal neoplasm Esophageal carcinoma Abnormality of esophagus physiology Abnormal large intestine morphology Esophageal leukoplakia Hypertension Scarring Stroke Malabsorption Portal hypertension Thromboembolism Abnormality of the mediastinum Acute hepatic failure Varicose veins Hypercoagulability Esophageal varix Peritonitis Cholecystitis Gastrointestinal infarctions Portal vein thrombosis Budd-Chiari syndrome Reduced protein C activity Diffuse palmoplantar hyperkeratosis Clubbing of toes Anonychia Ectodermal dysplasia Natal tooth Hamartoma Thick nail Skin plaque Abnormality of nail color Steatocystoma multiplex Dysphagia Edema Hernia Postural instability Epidermal acanthosis Plantar hyperkeratosis Short stature Palmoplantar hyperkeratosis Poor suck Oral-pharyngeal dysphagia Parakeratosis Abnormality of the mouth Hiatus hernia Esophagitis Follicular hyperkeratosis Hypergranulosis Esophageal stricture Failure to thrive Thoracic kyphoscoliosis Congenital hypertrophy of retinal pigment epithelium Restrictive ventilatory defect Dyspnea Cough Abnormality of skin pigmentation Hematuria Chest pain Abnormal lung morphology Lymphedema Nephroblastoma Emphysema Macule Recurrent respiratory infections Hemoptysis Pulmonary infiltrates Multiple renal cysts Renal neoplasm Atelectasis Abnormality of female internal genitalia Pneumothorax Bronchiolitis Chylothorax Abnormality of the lymphatic system Respiratory failure Hydrocephalus Shagreen patch Functional intestinal obstruction Hepatosplenomegaly Anorexia Exocrine pancreatic insufficiency Chronic fatigue Neoplasm of the liver Intestinal pseudo-obstruction Intermittent diarrhea Extrahepatic cholestasis Pancreatic adenocarcinoma Oropharyngeal squamous cell carcinoma Optic atrophy Peritoneal abscess Pancreatic squamous cell carcinoma Abnormality of metabolism/homeostasis Lymphoma Increased body weight Hodgkin lymphoma Dysgerminoma Non-Hodgkin lymphoma Ovarian papillary adenocarcinoma Seizures Abnormal urinary color Bronchiolitis obliterans Duodenal polyposis Multiple impacted teeth Adrenocortical adenoma Papillary thyroid carcinoma Hepatoblastoma Keloids Diabetes mellitus Chondrosarcoma Absent gallbladder Intestinal polyp Adrenocortical carcinoma Colorectal polyposis Medulloblastoma Cholangiocarcinoma Fibroadenoma of the breast Osteoma Multiple gastric polyps Unerupted tooth Adenomatous colonic polyposis Odontoma Duodenal adenocarcinoma Small intestine carcinoid Desmoid tumors Glioma Intestinal polyposis Renal angiomyolipoma Hyperpigmentation of the skin Retinal hamartoma Ungual fibroma Cystic lung disease Pulmonary lymphangiomyomatosis Chylopericardium Intellectual disability Kyphoscoliosis Intellectual disability, moderate Leukemia Infertility Horseshoe kidney Thyroid carcinoma Hyperextensible skin Precocious puberty Chorioretinal atrophy Agenesis of permanent teeth Neurofibromas Multiple lipomas Increased number of teeth Increased circulating cortisol level Brain neoplasm Astrocytoma Hepatic vein thrombosis


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