Melanoma, and Stroke

Diseases related with Melanoma and Stroke

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


Top matches:

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

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Other less relevant matches:

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match BUDD-CHIARI 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

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match JUVENILE POLYPOSIS SYNDROME; JPS


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

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Low match STROKE, ISCHEMIC


A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).See also hemorrhagic stroke, or intracerebral hemorrhage (ICH ).

STROKE, ISCHEMIC Is also known as cerebral infarction|cerebrovascular accident

Related symptoms:

  • Stroke
  • Cerebral hemorrhage


SOURCES: OMIM MENDELIAN

More info about STROKE, ISCHEMIC

Top 5 symptoms//phenotypes associated to Melanoma and Stroke

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases
Colon cancer Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Rare Symptoms - Less than 30% cases


Failure to thrive Congestive heart failure Hamartomatous polyposis Hematochezia Pain Clubbing Telangiectasia Epistaxis Anemia Polycythemia Portal hypertension Headache Stomach cancer Jaundice Abdominal pain Acute hepatic failure Nevus Global developmental delay Intellectual disability Spasticity Ventriculomegaly Mental deterioration Hemiparesis Ataxia Aciduria Thick lower lip vermilion Pancreatitis Abnormality of circulating adrenocorticotropin level Hyperammonemia Alkalosis Thyroid follicular hyperplasia Episodic ataxia Coma Sertoli cell neoplasm Cerebral edema Episodic vomiting Pigmentation of the sclera Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Gliosis Histiocytoma Postaxial polydactyly Cerebral atrophy Adenocarcinoma of the colon Hepatic vascular malformations Growth delay Depressed nasal bridge Epicanthus Peripheral neuropathy Anteverted nares Edema Vomiting Abnormality of cardiovascular system morphology Hepatic failure Hypospadias Encephalopathy Abnormal heart morphology Intra-oral hyperpigmentation Polydactyly Thin upper lip vermilion Irritability Lethargy Smooth philtrum Protein avoidance Confusion Episodic ammonia intoxication Hyperglutaminemia Pancreatic adenocarcinoma Schwannoma Pigmented micronodular adrenocortical disease Multiple lentigines Enlarged polycystic ovaries Neoplasm of the breast Cardiac myxoma Pituitary prolactin cell adenoma Testicular neoplasm Adrenocortical carcinoma Thyroid adenoma Osteochondroma Red hair Recurrent paroxysmal headache Abnormal prolactin level Pituitary growth hormone cell adenoma Adrenal pheochromocytoma Increased urinary cortisol level Fibroadenoma of the breast Vestibular Schwannoma Nodular goiter Hypertension associated with pheochromocytoma Uterine neoplasm Hepatocellular adenoma Blue nevus Bronchogenic cyst Multiple gastric polyps Low plasma citrulline Hirsutism Sudden cardiac death Subcutaneous nodule Cafe-au-lait spot Neoplasm of the skin Polycystic ovaries Hypermelanotic macule Ovarian neoplasm Growth hormone excess Increased circulating cortisol level Hypoplasia of the musculature Neoplasm of the pancreas Abnormal pigmentation of the oral mucosa Prolactin excess Pituitary adenoma Peripheral Schwannoma Neoplasm of the endocrine system Thyroid carcinoma Parathyroid adenoma Ovarian cyst Profuse pigmented skin lesions Duodenal adenocarcinoma Umbilical hernia Intussusception Elevated hepatic transaminase Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Hepatomegaly Fever Splenomegaly Weight loss Scarring Meningocele Malabsorption Nausea Cirrhosis Ascites Myocardial infarction Intestinal obstruction Thromboembolism Hepatocellular carcinoma Varicose veins Spinal cord compression Arachnoid cyst Esophageal varix Cranial nerve paralysis Generalized hypotonia Hydrocephalus Behavioral abnormality EEG abnormality Abnormality of the nervous system Dandy-Walker malformation Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Venous thrombosis Syringomyelia Renal hypoplasia/aplasia Arnold-Chiari malformation Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Generalized hyperpigmentation Hypercoagulability Peritonitis Melena Vertigo Juvenile gastrointestinal polyposis Cryptorchidism Macrocephaly Fatigue Respiratory distress Diarrhea Hernia Dyspnea Cough Chest pain Hepatic arteriovenous malformation Cyanosis Diplopia Hypokalemia Hypoalbuminemia Hamartoma Hemoptysis Clubbing of fingers Intestinal polyposis Rectal prolapse Hematemesis Intrapulmonary shunt Pulmonary arteriovenous malformation Cholecystitis Joint hypermobility Gastrointestinal infarctions Portal vein thrombosis Budd-Chiari syndrome Reduced protein C activity Hepatic vein thrombosis Dilatation Visual loss Arrhythmia Arthritis Mitral valve prolapse Gastrointestinal carcinoma Abnormality of extrapyramidal motor function Mitral regurgitation Hemangioma Aortic aneurysm Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Arteriovenous malformation Cavernous hemangioma Cerebral arteriovenous malformation Cerebral hemorrhage



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