Melanoma, and Cyanosis

Diseases related with Melanoma and Cyanosis

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

Top matches:

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

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

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Other less relevant matches:

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Low match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

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

Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

Top 5 symptoms//phenotypes associated to Melanoma and Cyanosis

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Colon cancer Uncommon - Between 30% and 50% cases
Polycythemia Uncommon - Between 30% and 50% cases
Neoplasm of the pancreas Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Breast carcinoma Jaundice Seizures Pain Abdominal pain

Rare Symptoms - Less than 30% cases

Stomach cancer Clubbing Abnormal lung morphology Diarrhea Clubbing of fingers Cough Respiratory tract infection Dyspnea Congestive heart failure Respiratory distress Respiratory insufficiency Fever Hypertension Ataxia Fatigue Sarcoma Diabetes mellitus Exocrine pancreatic insufficiency Telangiectasia Weight loss Pancreatic adenocarcinoma Abnormality of the mouth Obstructive sleep apnea Cardiorespiratory arrest Chronic constipation Hypothermia Neuroblastoma Abnormality of the endocrine system Chronic lung disease Hypoxemia Abnormal pupil morphology Central hypoventilation Neoplasm of the central nervous system Hypoventilation Sleep apnea Polyphagia Anxiety Short nose Obesity Depressivity Constipation Posteriorly rotated ears Hyperhidrosis Low-set, posteriorly rotated ears Triangular mouth Apnea Postural instability Abnormality of the cardiovascular system Aganglionic megacolon Increased body weight Abnormal autonomic nervous system physiology Abnormality of temperature regulation Back pain Downslanted palpebral fissures Hematemesis Hamartoma Hemoptysis Hematochezia Intestinal polyposis Rectal prolapse Hamartomatous polyposis Melena Hypoalbuminemia Intussusception Multiple gastric polyps Duodenal adenocarcinoma Adenocarcinoma of the colon Hepatic vascular malformations Growth delay Abnormality of the nervous system Portal hypertension Hypokalemia Ganglioneuroma Macrocephaly Ganglioneuroblastoma Abnormality of the autonomic nervous system Hypercapnia Failure to thrive Cryptorchidism Anemia Headache Diplopia Hernia Umbilical hernia Stroke Vertigo Chest pain Gastrointestinal hemorrhage Epistaxis Snoring Muscular hypotonia Feeding difficulties Rhabdomyosarcoma Progressive encephalopathy Acute leukemia Osteosarcoma Brain neoplasm Medulloblastoma Prostate cancer Soft tissue sarcoma Acute lymphoblastic leukemia Adrenocortical carcinoma Lung adenocarcinoma Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Plethora Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the lung Hodgkin lymphoma Neoplasm of the adrenal cortex Ovarian carcinoma Poor appetite Chronic fatigue Neoplasm of the liver Intestinal pseudo-obstruction Intermittent diarrhea Extrahepatic cholestasis Functional intestinal obstruction Nephroblastoma Oropharyngeal squamous cell carcinoma Peritoneal abscess Pancreatic squamous cell carcinoma Leukemia Lymphoma Neoplasm of the skin Neoplasm of the colon Prostate neoplasm Cognitive impairment Alveolar cell carcinoma Interstitial pulmonary abnormality Exertional dyspnea Pulmonary infiltrates Right ventricular failure Pulmonary insufficiency Crackles Hypocapnia Pulmonary fibrosis Reticular pattern on pulmonary HRCT Honeycomb lung Ground-glass opacification on pulmonary HRCT Strabismus Squamous cell carcinoma Low-set ears Increased antibody level in blood Pancreatitis Anorexia Increased level of L-fucose in urine Lymphadenopathy Nausea and vomiting Elevated hepatic transaminase Hepatosplenomegaly Pneumonia Respiratory failure Gastroesophageal reflux Scaling skin Scarring Chronic pancreatitis Cirrhosis Pulmonary arterial hypertension Ovarian neoplasm Bronchiectasis Progressive neurologic deterioration


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