Hypertension, and Melanoma

Diseases related with Hypertension and Melanoma

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

Top matches:

The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

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 WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Other less relevant matches:

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

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

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 CMM1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.

DENYS-DRASH SYNDROME Is also known as drash syndrome|wilms tumor-disorder of sex development syndrome|wilms tumor-dsd syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Renal insufficiency
  • Micropenis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENYS-DRASH SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Melanoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Meningioma Rare - less than 30% cases
Carcinoma Rare - less than 30% cases
Nephroblastoma Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Renal cell carcinoma Renal neoplasm Micropenis Behavioral abnormality Abnormality of retinal pigmentation Nephropathy Polyphagia Premature graying of hair Aplasia/Hypoplasia of the skin Decreased fertility Lipoatrophy Secondary amenorrhea Telangiectasia of the skin Scleroderma Myeloid leukemia Ovarian neoplasm Prematurely aged appearance Subcapsular cataract Premature loss of teeth Alopecia of scalp High pitched voice Polydipsia Squamous cell carcinoma Breast carcinoma Increased bone mineral density Hoarse voice Hypergonadotropic hypogonadism Spontaneous abortion Type I diabetes mellitus Macular degeneration Atherosclerosis Laryngomalacia Polyuria Sarcoma Dermal atrophy Lipodystrophy Abnormality of the voice Myelodysplasia Pulmonary artery stenosis Abnormality of the thorax Rocker bottom foot Neoplasm of the lung Peripheral arterial stenosis Posterior subcapsular cataract Ambiguous genitalia Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Edema Renal insufficiency Proteinuria Stage 5 chronic kidney disease Nephrotic syndrome Gastrointestinal carcinoma Abnormality of the genital system Abnormality of the genitourinary system Glomerulosclerosis Focal segmental glomerulosclerosis Gonadal dysgenesis Male pseudohermaphroditism Gonadoblastoma Diffuse mesangial sclerosis Premature arteriosclerosis Neoplasm of the small intestine Progeroid facial appearance Slender build Osteosarcoma Abnormality of the cerebral vasculature Abnormality of the hair Lack of skin elasticity Chondrocalcinosis Pili torti Abnormality of the testis White forelock Subcutaneous calcification Thyroid carcinoma Enlarged joints Arteriosclerosis Narrow nasal ridge Chorioretinitis Soft tissue sarcoma Abnormal hair whorl Poliosis Narrow face Type II diabetes mellitus Skin ulcer Thickened skin Hydrocephalus EEG abnormality Abnormality of the nervous system Mental deterioration Nevus Dandy-Walker malformation Hemiparesis Generalized hirsutism Spasticity Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Increased intracranial pressure Encephalitis Intracranial hemorrhage Ventriculomegaly Ataxia Melanocytic nevus Fibrosarcoma Obesity Falls Renal cyst Lymphoma Polycythemia Retinoblastoma Papillary renal cell carcinoma Burkitt lymphoma Generalized hypotonia Clear cell renal cell carcinoma Small cell lung carcinoma Cerebellar hemangioblastoma Hemangioblastoma Intellectual disability Seizures Global developmental delay Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Insulin resistance Small hand Diabetes mellitus Hyperkeratosis Proptosis Joint stiffness Retinopathy Leukemia Retinal degeneration Hypopigmentation of the skin Osteoporosis Coma Chest pain Convex nasal ridge Decreased testicular size Myocardial infarction Sparse scalp hair Decreased body weight Hypogonadism Rod-cone dystrophy Abnormality of neuronal migration Choroid plexus papilloma Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Spinal cord compression Astrocytoma Papilloma Numerous congenital melanocytic nevi Alopecia Short stature Pain Cataract Visual impairment Peripheral neuropathy Skeletal muscle atrophy Congestive heart failure Abnormality of the dentition Steroid-resistant nephrotic syndrome


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