Hypertension, and Retinoblastoma

Diseases related with Hypertension and Retinoblastoma

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


Top matches:

Medium match RENAL CELL CARCINOMA, NONPAPILLARY; RCC


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

Low match DENYS-DRASH 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

Low match FRASIER SYNDROME


Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FRASIER SYNDROME

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Other less relevant matches:

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Low match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match VON HIPPEL-LINDAU SYNDROME; VHL


Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

Low match NEPHROBLASTOMA


Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

NEPHROBLASTOMA Is also known as wilms tumor|nephroblastoma|renal embryonic tumor

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROBLASTOMA

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Retinoblastoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Nephroblastoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Proteinuria Pheochromocytoma Retinal capillary hemangioma Adrenal pheochromocytoma Hematuria Male pseudohermaphroditism Gonadal dysgenesis Focal segmental glomerulosclerosis Paraganglioma Renal neoplasm

Rare Symptoms - Less than 30% cases


Episodic paroxysmal anxiety Visual loss Multiple renal cysts Congestive heart failure Weight loss Palpitations Retinal detachment Hypercalcemia Aniridia Hyperhidrosis Recurrent paroxysmal headache Obesity Hydrocephalus Pulsatile tinnitus Sensorineural hearing impairment Hypertension associated with pheochromocytoma Hypoglycemia Extraadrenal pheochromocytoma Renal cyst Fever Paraganglioma of head and neck Capillary hemangioma Hearing impairment Pancreatic cysts Stage 5 chronic kidney disease Nephrotic syndrome Glomerulosclerosis Papillary cystadenoma of the epididymis Polycythemia Ambiguous genitalia Pain Gonadoblastoma Amenorrhea Edema Hemangioblastoma Cerebellar hemangioblastoma Abnormality of the liver Vertigo Intellectual disability Pulmonary capillary hemangiomatosis Neoplasm of the ear Dilatation Secondary hyperaldosteronism Blindness Abdominal pain Spinal hemangioblastoma Nevus Progressive visual loss Epididymal cyst Lymphadenopathy Neurofibromas Hamartoma Exocrine pancreatic insufficiency Subarachnoid hemorrhage Tinnitus Papilledema Neoplasm of the pancreas Hemangioma Retinal neovascularization Premature pubarche Facial paralysis Neoplasm of the endocrine system Carcinoid tumor Choroidal neovascularization Posterior uveitis Hypokalemia Hyperaldosteronism Astrocytoma Overgrowth Sarcoma Infertility Hirsutism Abnormality of the cardiovascular system Recurrent urinary tract infections Gynecomastia Azoospermia Growth abnormality Polycystic ovaries Precocious puberty Hypospadias Abnormality of the thorax Abnormal spermatogenesis Clitoral hypertrophy Adrenal insufficiency Decreased fertility Congenital adrenal hyperplasia Lipoma Abnormality of the ovary Adrenal hyperplasia Osteopenia Short stature Neoplasm of the lung Hyperlipidemia Hemihypertrophy Neoplasm of the liver Hepatomegaly Delayed puberty Lactic acidosis Renal salt wasting Adrenocortical carcinoma Metabolic acidosis Pulmonary arterial hypertension Glomus jugular tumor Ketonemia Hepatocellular carcinoma Gout Xanthomatosis Xanthelasma Decreased glomerular filtration rate Hepatoblastoma Adrenogenital syndrome Chronic pancreatitis Spider hemangioma Elevated urinary catecholamines Polycystic kidney dysplasia Chemodectoma Pallor Ambiguous genitalia, male Streak ovary Gonadal dysgenesis with female appearance, male Ovarian gonadoblastoma Tremor Fatigue Conductive hearing impairment Nausea Sex reversal Chest pain Dysphonia Cerebral hemorrhage Episodic abdominal pain Vocal cord paralysis Flushing Sinus tachycardia Decreased serum estradiol Increased circulating gonadotropin level Elevated calcitonin Clear cell renal cell carcinoma Falls Lymphoma Melanoma Papillary renal cell carcinoma Fibrosarcoma Burkitt lymphoma Small cell lung carcinoma Glomerulopathy Micropenis Nephropathy Abnormality of the genital system Abnormality of the genitourinary system Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Primary amenorrhea Hypergonadotropic hypogonadism Cranial nerve compression Hypertensive retinopathy Gastrointestinal stroma tumor Visceral angiomatosis Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Telangiectasia of the skin Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Abnormality of the lymphatic system Multicystic kidney dysplasia Neuroendocrine neoplasm Vascular neoplasm Neoplasm of the middle ear Headache Anxiety Tachycardia Cranial nerve paralysis Neuroblastoma Increased intracranial pressure Migraine Panic attack Ataxia Episodic hyperhidrosis Elevated urinary epinephrine Elevated urinary dopamine Elevated urinary norepinephrine Positive regitine blocking test Paroxysmal vertigo Arachnoid hemangiomatosis Nystagmus Sensory neuropathy Cataract Visual impairment Gait disturbance Arrhythmia Glaucoma Abnormality of the kidney Neurological speech impairment Nausea and vomiting Reduced amygdala volume



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