Melanoma, and Gastroesophageal reflux

Diseases related with Melanoma and Gastroesophageal reflux

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

Top matches:

High 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

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Related symptoms:

  • Neoplasm
  • Dysphagia
  • Obesity
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESOPHAGEAL CANCER

Other less relevant matches:

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

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

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

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Related symptoms:

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MELANOMA

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.

HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about HYPERPLASTIC POLYPOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Gastroesophageal reflux

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Nausea Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cough Hypertension Dysphagia Ascites Cirrhosis Pain Nausea and vomiting Respiratory distress Hepatomegaly Abdominal pain

Rare Symptoms - Less than 30% cases

Hemoptysis Edema Oral-pharyngeal dysphagia Allergy Portal hypertension Lymphadenopathy Asthma Squamous cell carcinoma Malabsorption Esophageal neoplasm Failure to thrive Diarrhea Respiratory tract infection Scarring Pulmonary fibrosis Abnormal lung morphology Bronchiectasis Clubbing Neoplasm of the pancreas Gastrointestinal hemorrhage Fatigue Vomiting Seizures Abdominal distention Chronic infection Erythema Echogenic fetal bowel Papule Leukemia Skin rash Hepatosplenomegaly Myalgia Arthralgia Osteoporosis Arrhythmia Thrombocytopenia Headache Pruritus Ichthyosis Cellular metachromasia Biliary tract obstruction Microscopic nephrocalcinosis Tachycardia Recurrent fractures Sudden cardiac death Elevated sweat chloride Absent vas deferens Hypotension Abnormal blistering of the skin Obstructive azoospermia Recurrent bronchopulmonary infections Telangiectasia Bone pain Bone marrow hypocellularity Splenomegaly Retinopathy Anemia Stomach cancer Epidermal acanthosis Thickened skin Palmoplantar hyperkeratosis Poor suck Poor appetite Parakeratosis Abnormality of the mouth Hiatus hernia Esophagitis Follicular hyperkeratosis Oral leukoplakia Hypergranulosis Neoplasm of the breast Esophageal stricture Leukopenia Abnormality of the lymphatic system Plantar hyperkeratosis Freckling Abnormality of the hair Clubbing of toes Abnormality of the mediastinum Abnormality of extrapyramidal motor function Nevus Dry skin Diffuse palmoplantar hyperkeratosis Esophageal carcinoma Abnormality of esophagus physiology Abnormal large intestine morphology Esophageal leukoplakia Osteolysis Shock Nasal polyposis Steatorrhea Dyskinesia Decreased antibody level in blood Dehydration Insulin resistance Sinusitis Recurrent pneumonia Nephrocalcinosis Pancreatitis Azoospermia Tachypnea Hypercalciuria Intestinal obstruction Emphysema Malnutrition Male infertility Delayed puberty Bronchitis Obstructive lung disease Wheezing Exocrine pancreatic insufficiency Secretory diarrhea Chronic lung disease Chronic obstructive pulmonary disease Cor pulmonale Abnormality of the pancreas Biliary cirrhosis Ileus Pneumothorax Rectal prolapse Chronic pancreatitis Infertility Abnormality of the liver Sarcoma Asthenia Urticaria Meconium ileus Loss of consciousness Hypermelanotic macule Abnormality of blood and blood-forming tissues Acute leukemia Flushing Pancreatic adenocarcinoma Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Productive cough Immunologic hypersensitivity Impaired temperature sensation Elevated hepatic transaminase Telangiectasia macularis eruptiva perstans Diabetes mellitus Recurrent respiratory infections Recurrent infections Dilatation Immunodeficiency Growth delay Chronic leukemia Ectodermal dysplasia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Exertional dyspnea Postural instability Abnormal cerebellum morphology Proximal muscle weakness Mental deterioration Developmental regression Irritability Pallor Paralysis Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Confusion Falls Sensory neuropathy Neurodegeneration Muscle cramps Generalized muscle weakness Myoclonus Fasciculations Progressive hearing impairment Hypercholesterolemia EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Hallucinations Urinary incontinence Progressive muscle weakness Involuntary movements Clumsiness Choreoathetosis Psychosis Memory impairment Rigidity Dementia Poor head control Hodgkin lymphoma Generalized hypotonia Global developmental delay Ovarian papillary adenocarcinoma Non-Hodgkin lymphoma Dysgerminoma Ovarian carcinoma Ovarian neoplasm Ataxia Back pain Breast carcinoma Increased body weight Lymphoma Constipation Abnormality of metabolism/homeostasis Hearing impairment Muscle weakness Rod-cone dystrophy Cerebellar atrophy Pes cavus Visual loss Depressivity Dystonia Behavioral abnormality Hypertonia Blindness Spasticity Gait disturbance Tremor Optic atrophy Skeletal muscle atrophy Dysarthria Peripheral neuropathy Hyperkinesis Slurred speech Palmoplantar keratoderma Central sleep apnea Dyspnea Pneumonia Congestive heart failure Respiratory insufficiency Fever Ganglioneuroma Central hypoventilation Pulmonary arterial hypertension Breathing dysregulation Neuroblastoma Abnormal autonomic nervous system physiology Aganglionic megacolon Decreased fetal movement Oligohydramnios Cyanosis Scaling skin Polyhydramnios Alveolar cell carcinoma Hyperkeratosis Hernia Ground-glass opacification on pulmonary HRCT Honeycomb lung Reticular pattern on pulmonary HRCT Hypocapnia Crackles Increased antibody level in blood Pulmonary insufficiency Right ventricular failure Clubbing of fingers Pulmonary infiltrates Polycythemia Interstitial pulmonary abnormality Small for gestational age Muscular hypotonia Incoordination Action tremor Decerebrate rigidity Mood changes Paranoia Psychomotor deterioration Exaggerated startle response Torsion dystonia Proximal amyotrophy Abnormal anterior horn cell morphology Loss of speech Muscle fibrillation Amyotrophic lateral sclerosis Personality changes Spinal muscular atrophy Apathy Psychotic episodes Cherry red spot of the macula Sensorineural hearing impairment Abnormality of the neck Strabismus Intellectual disability Increased body mass index Recurrent singultus Barrett esophagus Retinoblastoma Abnormality of the voice Therapeutic abortion Abnormal intestine morphology Chest pain Obesity Zebra bodies GM2-ganglioside accumulation Internuclear ophthalmoplegia Neoplasm of the stomach


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