Carcinoma, and Renal cyst

Diseases related with Carcinoma and Renal cyst

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


Top matches:

High match MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as msh3-related attenuated familial polyposis coli|msh3-related attenuated fap|msh3-related afap

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Astrocytoma
  • Stomach cancer
  • Papilloma


SOURCES: ORPHANET OMIM MENDELIAN

More info about MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

High 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

High match BIRT-HOGG-DUBÉ SYNDROME


Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

BIRT-HOGG-DUBÉ SYNDROME Is also known as hornstein-knickenberg syndrome|fibrofolliculomas with trichodiscomas and acrochordons

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Papule
  • Renal cyst


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRT-HOGG-DUBÉ SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

Medium match HYPERPARATHYROIDISM-JAW TUMOR SYNDROME


Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hpt-jt

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

Medium match PARATHYROID CARCINOMA


Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.

PARATHYROID CARCINOMA Is also known as prtc

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARATHYROID CARCINOMA

Medium match PEUTZ-JEGHERS SYNDROME; PJS


Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

Medium match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Medium 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

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Top 5 symptoms//phenotypes associated to Carcinoma and Renal cyst

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Renal cell carcinoma Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Fibroma Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Carcinoma and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nevus Abnormality of the kidney Polycystic kidney dysplasia Hypercalcemia Renal neoplasm Hypertension Nephroblastoma Hamartoma Headache Nephrolithiasis Dilatation Intestinal polyp Testicular neoplasm Thyroid carcinoma Hypercalciuria Nephrocalcinosis Primary hyperparathyroidism Parathyroid carcinoma Hypophosphatemia Hyperparathyroidism Neoplasm of the endocrine system Parathyroid adenoma Peptic ulcer Intestinal polyposis Elevated circulating parathyroid hormone level Clear cell renal cell carcinoma Papillary renal cell carcinoma Astrocytoma

Rare Symptoms - Less than 30% cases


Brain neoplasm Colon cancer Carcinoid tumor Parathyroid hyperplasia Nausea Intellectual disability, moderate Vomiting Stomach cancer Intellectual disability Muscle weakness Fatigue Dysphagia Constipation Polycythemia Osteoporosis Abnormality of the parathyroid morphology Nausea and vomiting Bone pain Pancreatitis Polydipsia Renal hamartoma Lipoma Episodic abdominal pain Chondrocalcinosis Thyroid adenoma Pancreatic adenocarcinoma Shortened QT interval Infantile hypercalcemia Melanoma Uterine leiomyoma Mandibular pain Pancreatic cysts Multiple lipomas Hydrocephalus Skin tags Intestinal obstruction Pneumothorax Cafe-au-lait spot Neoplasm of the pancreas Neurofibromas Hemangioma Retinal detachment Precocious puberty Breast carcinoma Retinoblastoma Edema Hemangioblastoma Cerebellar hemangioblastoma Neoplasm of the ear Retinal capillary hemangioma Choroidal neovascularization Posterior uveitis Intellectual disability, mild Pulmonary capillary hemangiomatosis Behavioral abnormality Retinal neovascularization Secondary hyperaldosteronism Congestive heart failure Respiratory distress Spinal hemangioblastoma Papillary cystadenoma of the epididymis Seizures Adrenal pheochromocytoma Epididymal cyst Unerupted tooth Paraganglioma Small intestine carcinoid Sensorineural hearing impairment Hearing impairment Blindness Congenital hypertrophy of retinal pigment epithelium Visual loss Abnormality of the liver Vertigo Duodenal polyposis Desmoid tumors Progressive visual loss Tinnitus Hypokalemia Duodenal adenocarcinoma Abdominal mass Odontoma Exocrine pancreatic insufficiency Hyperactivity Subarachnoid hemorrhage Papilledema Multiple renal cysts Hyperaldosteronism Adenomatous colonic polyposis Capillary hemangioma Facial paralysis Multiple gastric polyps Pheochromocytoma Arrhythmia Heterotopia Glaucoma Angiofibromas Generalized hypopigmentation White hair Wolff-Parkinson-White syndrome Gingival fibromatosis Chylothorax Adenoma sebaceum Flank pain Shagreen patch Ependymoma Premature chromatid separation Renal angiomyolipoma Optic nerve glioma Hyperventilation Subependymal nodules Hypomelanotic macule Dental enamel pits Ungual fibroma Cardiac rhabdomyoma Cortical tubers Chordoma Pulmonary lymphangiomyomatosis Connective tissue nevi Rhabdomyoma Subungual fibromas Achromatic retinal patches Abnormality of the respiratory system Infantile spasms Respiratory failure Hypopigmentation of the skin Autism Hypothyroidism Dyspnea Irritability Autistic behavior Skin rash Attention deficit hyperactivity disorder Stroke Cough Abnormality of the cerebral white matter Sleep disturbance Chest pain Aortic aneurysm Gliosis Brain atrophy Focal-onset seizure Specific learning disability Cerebral calcification Generalized-onset seizure Cardiomegaly Fibroadenoma of the breast Subcutaneous nodule Hypoplasia of dental enamel Tachypnea CNS hypomyelination Osteoma Bloody diarrhea Cholangiocarcinoma Hurthle cell thyroid adenoma Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Arthralgia Abnormality of the head Recurrent pancreatitis Renal cortical adenoma Ossifying fibroma Ossifying fibroma of the jaw Generalized osteoporosis Weight loss Anorexia Hoarse voice Polyuria Diarrhea Hyperhidrosis Abdominal pain Abdominal distention Gynecomastia Accelerated skeletal maturation Growth abnormality Aortic valve calcification Hyperphosphaturia Melanocytic nevus Abnormality of the hair Papilloma Obesity Falls Lymphoma Fibrosarcoma Burkitt lymphoma Small cell lung carcinoma Papule Abnormal lung morphology Abnormality of retinal pigmentation Neoplasm of the skin Left ventricular hypertrophy Emphysema Abnormality of abdomen morphology Medullary thyroid carcinoma Pulmonary sequestration Spontaneous pneumothorax Cylindroma Fibrofolliculoma Salivary gland oncocytoma Osteopenia Recurrent fractures Ventricular hypertrophy Psoriasiform dermatitis Clubbing Colorectal polyposis Increased circulating cortisol level Carious teeth Infertility Hyperpigmentation of the skin Horseshoe kidney Hyperextensible skin Sarcoma Chorioretinal atrophy Agenesis of permanent teeth Increased number of teeth Neoplasm of the lung Medulloblastoma Kyphoscoliosis Glioma Adrenocortical adenoma Epidermoid cyst Papillary thyroid carcinoma Hepatoblastoma Keloids Thoracic kyphoscoliosis Chondrosarcoma Absent gallbladder Adrenocortical carcinoma Multiple impacted teeth Leukemia Abnormality of the dentition Hypermelanotic macule Rectal prolapse Macule Ovarian neoplasm Iron deficiency anemia Abnormality of the ureter Vitiligo Abnormality of the mouth Clubbing of fingers Multiple myeloma Ovarian cyst Biliary tract abnormality Nasal polyposis Precocious puberty with Sertoli cell tumor Neoplasm of the breast Hamartomatous polyposis Intestinal bleeding Hematemesis Thrombophlebitis Intussusception Gastrointestinal carcinoma Uterine neoplasm Thyroid nodule Congenital shortened small intestine Endolymphatic sac tumor Projection of scalp hair onto lateral cheek



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Leukoencephalopathy, related diseases and genetic alterations Brachydactyly and Premature birth, related diseases and genetic alterations Depressed nasal bridge and Premature birth, related diseases and genetic alterations Edema and Dental crowding, related diseases and genetic alterations Scoliosis and Iris coloboma, related diseases and genetic alterations Scoliosis and Microtia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more