Anemia, and Renal cell carcinoma

Diseases related with Anemia and Renal cell carcinoma

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


Top matches:

Low match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Low match PEUTZ-JEGHERS SYNDROME


Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.

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

Related symptoms:

  • Neoplasm
  • Anemia
  • Vomiting
  • Abdominal pain
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME

Low match BLUE RUBBER BLEB NEVUS


Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLUE RUBBER BLEB NEVUS

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Other less relevant matches:

Low 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

Low match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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 MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME


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

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

Top 5 symptoms//phenotypes associated to Anemia and Renal cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Breast carcinoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Renal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Nevus Pain Visual loss Clear cell renal cell carcinoma Rectal prolapse Hemangioma Gastrointestinal hemorrhage

Rare Symptoms - Less than 30% cases


Renal cyst Hyperhidrosis Polycythemia Melanoma Renal neoplasm Gastrointestinal carcinoma Posterior uveitis Gastrointestinal infarctions Cerebellar hemangioblastoma Hemangioblastoma Skin rash Hypermelanotic macule Leukemia Glaucoma Carcinoid tumor Pancreatic cysts Pheochromocytoma Neoplasm of the pancreas Hamartoma Neoplasm of the endocrine system Headache Bone pain Edema Intussusception Neurofibromas Intestinal bleeding Abnormality of the mouth Iron deficiency anemia Nasal polyposis Paraganglioma Diarrhea Fever Lymphoma Abnormality of the respiratory system Multiple renal cysts Hydrocephalus Visual impairment Thrombocytopenia Peripheral neuropathy Blindness Abnormality of the ureter Macule Intestinal obstruction Malabsorption Abdominal pain Overgrowth Severe vision loss Weight loss Autism Freckling Osteomalacia Multiple cafe-au-lait spots Kyphoscoliosis Tibial bowing Osteopenia Overweight Brain neoplasm Hyperactivity Increased reactive oxygen species production Gangrene Meningioma Myocardial fibrosis Pulmonary fibrosis Astrocytoma Aqueductal stenosis Parathyroid adenoma Complete atrioventricular canal defect Osteoporosis Hypoglycemia Precocious puberty Hypophosphatemia Genu valgum Recurrent fractures Tetralogy of Fallot Abnormality of the cardiovascular system Mitral valve prolapse Coarctation of aorta Anomalous pulmonary venous return Abnormality of skin pigmentation Aganglionic megacolon Cafe-au-lait spot Sensorimotor neuropathy Peripheral axonal neuropathy Paresthesia Facial asymmetry Pulmonic stenosis Sensory axonal neuropathy Spina bifida Pruritus Attention deficit hyperactivity disorder Atherosclerosis Paralysis Venous thrombosis Reduced bone mineral density Incoordination Autistic behavior Sarcoma Hypertrophic cardiomyopathy Back pain Specific learning disability Clitoral hypertrophy Hypsarrhythmia Global developmental delay Night sweats Hypercalcemia Nephroblastoma Retinoblastoma Papillary renal cell carcinoma Fibrosarcoma Burkitt lymphoma Small cell lung carcinoma Cutaneous melanoma Hearing impairment Sensorineural hearing impairment Vertigo Retinal detachment Progressive visual loss Tinnitus Hypokalemia Exocrine pancreatic insufficiency Obesity Subarachnoid hemorrhage Papilledema Hyperaldosteronism Capillary hemangioma Facial paralysis Choroidal neovascularization Adrenal pheochromocytoma Retinal neovascularization Epididymal cyst Papillary cystadenoma of the epididymis Retinal capillary hemangioma Pulmonary capillary hemangiomatosis Spinal hemangioblastoma Secondary hyperaldosteronism Falls Brow ptosis Rhabdomyosarcoma Depressivity Nasolacrimal duct obstruction Glioma Schwannoma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Soft tissue sarcoma Pseudoarthrosis Single ventricle Tibial pseudoarthrosis Subcutaneous neurofibromas Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Renal artery stenosis Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Abnormal heart morphology Abnormal salivary gland morphology Abnormality of cardiovascular system morphology Visceral angiomatosis Abnormal pigmentation of the oral mucosa Cervix cancer Neoplasm of the nose Growth delay Subcutaneous nodule Abnormality of coagulation Prolonged bleeding time Pathologic fracture Microcytic anemia Abnormality of the vasculature Arteriovenous malformation Volvulus Medulloblastoma Chronic lymphatic leukemia Cavernous hemangioma Biliary tract neoplasm Melena Venous malformation Multiple enchondromatosis Cerebellar medulloblastoma Chronic disseminated intravascular coagulation Abnormality of the kidney Abdominal distention Gynecomastia Accelerated skeletal maturation Growth abnormality Polycystic kidney dysplasia Psoriasiform dermatitis Melanocytic nevus Clubbing Melanonychia Esophageal neoplasm Vitiligo Hypocholesterolemia Muscular hypotonia Gait disturbance Rod-cone dystrophy Abnormality of movement Retinal degeneration Hepatic failure Hepatic steatosis Peripheral demyelination Chronic diarrhea Abnormality of retinal pigmentation Reduced tendon reflexes Abnormality of the coagulation cascade Acanthocytosis Fat malabsorption Decreased LDL cholesterol concentration Neoplasm of the colon Enlarged polycystic ovaries Neoplasm of the rectum Neoplasm of the small intestine Abnormality of the gallbladder Pancreatic adenocarcinoma Arteriovenous fistula Multiple lentigines Stomach cancer Abetalipoproteinemia Abnormality of the nose Abnormality of the gastrointestinal tract Neoplasm of the lung Vomiting Steatocystoma multiplex Increased HDL cholesterol concentration Ovarian neoplasm Clubbing of fingers Intellectual disability, mild Retrobulbar optic neuritis Keratitis Pericarditis Joint swelling Xerostomia Abnormal cranial nerve morphology Abnormality of the optic nerve Abnormality of the retinal vasculature Synovitis Erythema nodosum Iridocyclitis Ataxia Abnormal choroid morphology Polyarticular arthritis Large vessel vasculitis Abnormal inflammatory response Skin ulcer Delayed speech and language development Behavioral abnormality Cardiomyopathy Respiratory insufficiency Abnormality of the skeletal system Macrocephaly Dysarthria Cognitive impairment Intellectual disability Ptosis Abnormal facial shape Hypertelorism Scoliosis Short stature Seizures Aortic aneurysm Hyperpigmentation of the skin Multiple myeloma Precocious puberty with Sertoli cell tumor Ovarian cyst Intestinal polyposis Biliary tract abnormality Neoplasm of the breast Hamartomatous polyposis Hematemesis Thrombophlebitis Bloody diarrhea Testicular neoplasm Intestinal polyp Uterine neoplasm Thyroid nodule Congenital shortened small intestine Endolymphatic sac tumor Cataract Pulmonary arterial hypertension Papule Limitation of joint mobility Nephropathy Stage 5 chronic kidney disease Ichthyosis Lymphadenopathy Dry skin Camptodactyly of finger Splenomegaly Retinopathy Erythema Facial palsy Photophobia Arthralgia Dyspnea Neoplasm of the ear



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