Melanoma, and Abdominal pain

Diseases related with Melanoma and Abdominal pain

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

Top matches:

Medium 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

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

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

Other less relevant matches:

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

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match UVEAL MELANOMA

Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

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

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Top 5 symptoms//phenotypes associated to Melanoma and Abdominal pain

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Basal cell carcinoma Breast carcinoma

Rare Symptoms - Less than 30% cases

Telangiectasia Colon cancer Exocrine pancreatic insufficiency Neoplasm of the pancreas Restrictive ventilatory defect Anorexia Severe vision loss Lymphadenopathy Diabetes mellitus Visual impairment Squamous cell carcinoma Cataract Dyspnea Abnormality of skin pigmentation Gastrointestinal hemorrhage Abnormal lung morphology Jaundice Pancreatic adenocarcinoma Hypopigmentation of the skin Nevus Respiratory distress Ovarian carcinoma Ovarian neoplasm Vomiting Back pain Hyperkeratosis Ascites Nausea and vomiting Visual loss Retinal detachment Increased intraocular pressure Abnormality of refraction Inflammatory abnormality of the eye Melanocytic nevus Freckling Ocular pain Menometrorrhagia Acanthosis nigricans Vitreous hemorrhage Cutaneous melanoma Mydriasis Metamorphopsia Freckles in sun-exposed areas Ulcerative colitis Partial albinism Gingival bleeding Colitis Hypopigmentation of hair Prolonged bleeding time Iris hypopigmentation Pulmonary fibrosis Albinism Inflammation of the large intestine Squamous cell carcinoma of the skin Abnormality of visual evoked potentials Ocular albinism Hematochezia Abnormality of the optic nerve Abnormal thrombocyte morphology Impaired platelet aggregation Abnormal fundus morphology Choroidal nevus Zonular cataract Cutaneous photosensitivity Postnatal growth retardation Erythema Sparse hair Skin rash Leukemia Abnormal blistering of the skin Overgrowth Eczema Sparse scalp hair Hypogonadism Erythroderma Striae distensae Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Acantholysis Lamellar cataract Osteopenia Hyperhidrosis Uveal melanoma Intellectual disability Photopsia Subretinal fluid Inferior lens subluxation Choroidal melanoma Iris melanoma Ciliary body melanoma Abnormal visual accommodation Abnormality of the hair Short stature Osteoporosis Growth delay Feeding difficulties Frontal bossing Edema Diarrhea Abnormality of the dentition Alopecia Prominent forehead Abnormality of dental enamel Blindness Amblyopia Seizures Intestinal pseudo-obstruction Intermittent diarrhea Extrahepatic cholestasis Functional intestinal obstruction Oropharyngeal squamous cell carcinoma Peritoneal abscess Pancreatic squamous cell carcinoma Cognitive impairment Chronic fatigue Fever Optic atrophy Hydrocephalus Recurrent respiratory infections Respiratory failure Cough Hematuria Neoplasm of the liver Poor appetite Myocardial infarction Hodgkin lymphoma Abnormality of metabolism/homeostasis Constipation Gastroesophageal reflux Nausea Abdominal distention Lymphoma Increased body weight Dysgerminoma Sarcoma Non-Hodgkin lymphoma Ovarian papillary adenocarcinoma Ataxia Pancreatitis Chronic pancreatitis Increased level of L-fucose in urine Hepatosplenomegaly Elevated hepatic transaminase Chest pain Lymphedema Long eyelashes Photophobia Nystagmus Strabismus Myopia Cardiomyopathy Renal insufficiency Immunodeficiency Recurrent infections Malabsorption Pulmonary lymphangiomyomatosis Astigmatism Bruising susceptibility Neutropenia Abnormal bleeding Epidermal acanthosis Epistaxis Thickened skin Chylopericardium Cystic lung disease Nephroblastoma Abnormality of female internal genitalia Emphysema Macule Hemoptysis Pulmonary infiltrates Multiple renal cysts Renal neoplasm Atelectasis Pneumothorax Ungual fibroma Bronchiolitis Chylothorax Abnormality of the lymphatic system Abnormal urinary color Shagreen patch Bronchiolitis obliterans Renal angiomyolipoma Retinal hamartoma Acrokeratosis


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