Melanoma, and Diarrhea

Diseases related with Melanoma and Diarrhea

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


Top matches:

Low match FAMILIAL PANCREATIC CARCINOMA


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 BENIGN CHRONIC PEMPHIGUS; BCPM


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

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


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

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Other less relevant matches:

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Low 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

Low match 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 malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

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

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6


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

Low match GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS


Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see {604936}), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).

Related symptoms:

  • Diarrhea
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS

Top 5 symptoms//phenotypes associated to Melanoma and Diarrhea

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Breast carcinoma Ovarian carcinoma Telangiectasia Fatigue Cataract Ovarian neoplasm Nausea and vomiting

Rare Symptoms - Less than 30% cases


Ataxia Visual impairment Frontal bossing Vomiting Lymphoma Hyperkeratosis Diabetes mellitus Hodgkin lymphoma Leukemia Melanocytic nevus Overgrowth Basal cell carcinoma Severe vision loss Acrokeratosis Immunodeficiency Recurrent infections Hypopigmentation of the skin Myopia Neoplasm of the pancreas Jaundice Colon cancer Squamous cell carcinoma Exocrine pancreatic insufficiency Pancreatic adenocarcinoma Anorexia Back pain Short stature Intellectual disability Scaphocephaly Dysdiadochokinesis Intracranial hemorrhage Hand polydactyly Cutis marmorata Macule Abnormality of the thyroid gland Multiple lipomas Cystic hygroma Cellulitis Multiple cafe-au-lait spots Acute myeloid leukemia Hashimoto thyroiditis Hamartoma Hyperthyroidism Papilledema Abnormality of the vasculature Pancreatitis Thyroiditis Ovarian papillary adenocarcinoma Lipoma Renal cell carcinoma Lobular carcinoma in situ Palmoplantar hyperkeratosis Incoordination Chronic diarrhea Abnormality of the kidney Papule Joint hypermobility Polymicrogyria Palmoplantar keratoderma Hypoplasia of the maxilla Abnormal cerebellum morphology Macroglossia Decreased antibody level in blood Intention tremor Broad thumb Subcutaneous nodule Exotropia Skin tags Cafe-au-lait spot Increased level of L-fucose in urine Gynecomastia Lymphopenia Neoplasm of the skin Cranial nerve paralysis Drooling Chronic pancreatitis Hemangioma Increased intracranial pressure Hypopigmented skin patches Goiter Prolactin excess Furrowed tongue Megalencephaly Fibroadenoma of the breast Endometrial carcinoma Increased body weight Colorectal polyposis Abdominal distention Progressive macrocephaly Ascites Pseudopapilledema Mucosal telangiectasiae Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Nausea Cutis marmorata telangiectatica congenita Varicocele Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Gastroesophageal reflux Constipation Merkel cell skin cancer Abnormality of metabolism/homeostasis Respiratory distress Multiple trichilemmomata Follicular thyroid carcinoma Dysgerminoma Meningioma Papilloma Hydrocele testis Arteriovenous malformation Abnormality of the uterus Astrocytoma Ovarian cyst Intestinal polyposis Bone cyst Cellular immunodeficiency Long penis Cavernous hemangioma Enlarged polycystic ovaries Hamartomatous polyposis Thyroid adenoma Fibroma Proximal muscle weakness Generalized hyperkeratosis Neoplasm of the central nervous system Non-Hodgkin lymphoma Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Intestinal polyp Intellectual disability, moderate Cognitive impairment Hypothyroidism Lamellar cataract Abnormal blistering of the skin Eczema Cutaneous photosensitivity Sparse scalp hair Erythroderma Striae distensae Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Acantholysis Nystagmus Skin rash Strabismus Cardiomyopathy Blindness Renal insufficiency Dyspnea Photophobia Malabsorption Astigmatism Bruising susceptibility Neutropenia Abnormal bleeding Nevus Abnormality of skin pigmentation Sparse hair Epidermal acanthosis Oropharyngeal squamous cell carcinoma Hepatosplenomegaly Elevated hepatic transaminase Lymphadenopathy Sarcoma Poor appetite Chronic fatigue Neoplasm of the liver Intestinal pseudo-obstruction Intermittent diarrhea Extrahepatic cholestasis Functional intestinal obstruction Peritoneal abscess Erythema Pancreatic squamous cell carcinoma Growth delay Feeding difficulties Edema Abnormality of the dentition Alopecia Prominent forehead Osteoporosis Hyperhidrosis Hypogonadism Osteopenia Postnatal growth retardation Gastrointestinal hemorrhage Epistaxis Narrow mouth Brachydactyly Generalized hypotonia Hearing impairment Scoliosis Hypertelorism Failure to thrive Micrognathia Muscle weakness Low-set ears High palate Delayed speech and language development Motor delay Skeletal muscle atrophy Seizures Macrocephaly Downslanted palpebral fissures Tremor Hydrocephalus Atrial septal defect Myopathy Intellectual disability, mild Kyphosis Headache Dilatation Pectus excavatum Autism Global developmental delay Freckles in sun-exposed areas Abnormal lung morphology Colitis Thickened skin Long eyelashes Amblyopia Abnormality of the hair Abnormality of dental enamel Acanthosis nigricans Inflammation of the large intestine Albinism Pulmonary fibrosis Restrictive ventilatory defect Prolonged bleeding time Freckling Menometrorrhagia Hypopigmentation of hair Iris hypopigmentation Gingival bleeding Abnormality of visual evoked potentials Ocular albinism Hematochezia Abnormality of the optic nerve Ulcerative colitis Abnormal thrombocyte morphology Impaired platelet aggregation Squamous cell carcinoma of the skin Partial albinism Abnormality of the liver



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