Carcinoma, and Renal dysplasia

Diseases related with Carcinoma and Renal dysplasia

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


Top matches:

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match LIPOPROTEIN GLOMERULOPATHY


Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE ). The disorder had rarely been described in Caucasians.

LIPOPROTEIN GLOMERULOPATHY Is also known as lpg

Related symptoms:

  • Edema
  • Renal insufficiency
  • Carcinoma
  • Proteinuria
  • Abnormality of the kidney


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIPOPROTEIN GLOMERULOPATHY

Low match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

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Other less relevant matches:

Low 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

Low match HEPATITIS B VIRUS, SUSCEPTIBILITY TO


HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Low match KARYOMEGALIC INTERSTITIAL NEPHRITIS


Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin|systemic karyomegaly

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KARYOMEGALIC INTERSTITIAL NEPHRITIS

Low 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 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

Low match DESMOID TUMOR


A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Low 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

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the liver

Rare Symptoms - Less than 30% cases


Jaundice Papillary renal cell carcinoma Elevated hepatic transaminase Fibroma Malabsorption Intestinal polyposis Parathyroid adenoma Abnormality of retinal pigmentation Hepatocellular carcinoma Cirrhosis Colon cancer Neoplasm of the skin Renal cyst Proteinuria Gastrointestinal hemorrhage Renal neoplasm Retinoblastoma Clear cell renal cell carcinoma Stage 5 chronic kidney disease Cholestasis Hyperparathyroidism Hepatomegaly Parathyroid carcinoma Primary hyperparathyroidism Osteopenia Nephrolithiasis Abdominal pain Breast carcinoma Pain Hypercalcemia Hepatitis Astrocytoma Increased blood urea nitrogen Mild proteinuria Chronic tubulointerstitial nephritis Falls Obesity Normocytic anemia Lymphoma Melanoma Nephroblastoma Polycythemia Mesangial hypercellularity Hyperlipoproteinemia Glomerulopathy Stomach cancer Tubular atrophy Papilloma Splenomegaly Membranoproliferative glomerulonephritis Dark urine Chronic infection Nausea Membranous nephropathy Acute hepatitis Fulminant hepatitis Anemia Recurrent infections Respiratory tract infection Glomerulonephritis Vomiting Hematuria Fever Chronic kidney disease Nephritis Thyroid adenoma Nephronophthisis Glycosuria Tubulointerstitial nephritis Elevated serum creatinine Pneumonia Intellectual disability Fibrosarcoma Polycystic kidney dysplasia Abnormality of the upper urinary tract Abnormality of the abdominal wall Neoplasm of the breast Epidermoid cyst Abdominal mass Desmoid tumors Recurrent fractures Ventricular hypertrophy Left ventricular hypertrophy Nephrocalcinosis Hypercalciuria Hypophosphatemia Intestinal obstruction Neoplasm of the endocrine system Hyperphosphaturia Elevated circulating parathyroid hormone level Generalized osteoporosis Peptic ulcer Carcinoid tumor Parathyroid hyperplasia Aortic valve calcification Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Abnormality of the musculature Osteolysis Burkitt lymphoma Pneumothorax Small cell lung carcinoma Cerebellar hemangioblastoma Hemangioblastoma Papule Nevus Abnormal lung morphology Cafe-au-lait spot Abnormality of the hair Emphysema Multiple lipomas Abnormality of abdomen morphology Skin tags Medullary thyroid carcinoma Subcutaneous nodule Intestinal polyp Pulmonary sequestration Spontaneous pneumothorax Cylindroma Fibrofolliculoma Salivary gland oncocytoma Arthralgia Myalgia Hydronephrosis Sepsis Chest pain Limitation of joint mobility Nephropathy Renal artery stenosis Edema Pulmonic stenosis Coarse facial features Hepatosplenomegaly Deeply set eye Conductive hearing impairment Protruding ear Craniosynostosis Scarring Retinopathy Stroke Short philtrum Broad forehead Pruritus Delayed puberty Acidosis Anal atresia Abnormality of skin pigmentation Hepatic failure Flat face Short distal phalanx of finger Hypopigmentation of the skin Microcornea Hypodontia Triangular face Vesicoureteral reflux Round face Prominent nose Specific learning disability Macrotia Brachycephaly Tetralogy of Fallot Intrauterine growth retardation Short stature Hearing impairment Growth delay Hypertelorism Failure to thrive Micrognathia Strabismus Abnormal facial shape Cataract Cryptorchidism Depressed nasal bridge Myopia Downslanted palpebral fissures Upslanted palpebral fissure Frontal bossing Abnormality of the skeletal system Ventricular septal defect Atrial septal defect Congestive heart failure Intellectual disability, mild Dilatation Clinodactyly Visual loss Areflexia Delayed skeletal maturation Clinodactyly of the 5th finger Prominent forehead Pigmentary retinopathy Abnormality of the ribs Butterfly vertebral arch Arterial stenosis Dilatation of the cerebral artery Abnormality of the vasculature Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Peripheral arterial stenosis Cholestatic liver disease Thyroid carcinoma Abnormal pupil morphology Peripheral pulmonary artery stenosis Fat malabsorption Hypopigmentation of the fundus Butterfly vertebrae Posterior embryotoxon Abnormal anterior chamber morphology Biliary atresia Band keratopathy Papillary thyroid carcinoma Axenfeld anomaly Vitamin D deficiency Global developmental delay Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Exocrine pancreatic insufficiency Abnormality of the ureter Coarctation of aorta Spina bifida occulta Nephrotic syndrome Renal hypoplasia Hypertriglyceridemia Abnormal form of the vertebral bodies Exotropia Lymphedema Abnormal vertebral morphology Pointed chin Hemivertebrae Multicystic kidney dysplasia Finger clinodactyly Hypercholesterolemia Renal tubular acidosis Corneal dystrophy Renal hypoplasia/aplasia Portal hypertension Glomerulosclerosis Heart murmur Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Chorioretinal atrophy Long nose Prolonged neonatal jaundice Telangiectasia of the skin Keratoconus Polyarticular chondrocalcinosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Stroke, related diseases and genetic alterations Microphthalmia and Photophobia, related diseases and genetic alterations Low-set ears and Bulbous nose, related diseases and genetic alterations Strabismus and Rheumatoid arthritis, related diseases and genetic alterations Anemia and Dysarthria, related diseases and genetic alterations Scoliosis and Recurrent urinary tract infections, related diseases and genetic alterations

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