Breast carcinoma, and Hematuria

Diseases related with Breast carcinoma and Hematuria

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


Top matches:

High match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

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

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

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Other less relevant matches:

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 HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

Low match SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS


Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Breast carcinoma
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS

Low match BAP1-RELATED TUMOR PREDISPOSITION SYNDROME


BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.

BAP1-RELATED TUMOR PREDISPOSITION SYNDROME Is also known as tumor susceptibility linked to germline bap1 mutations

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Papule
  • Nevus
  • Melanoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BAP1-RELATED TUMOR PREDISPOSITION SYNDROME

Low match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

Low match MUIR-TORRE SYNDROME


Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.

MUIR-TORRE SYNDROME Is also known as cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas|multiple keratoacanthoma, muir-torre type

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Nevus
  • Lymphoma


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUIR-TORRE SYNDROME

Low match LI-FRAUMENI SYNDROME


Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Top 5 symptoms//phenotypes associated to Breast carcinoma and Hematuria

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Very Common - Between 80% and 100% cases
Leukemia Common - Between 50% and 80% cases
Colon cancer Uncommon - Between 30% and 50% cases
Neoplasm of the pancreas Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal neoplasm Renal cell carcinoma Pain Neoplasm of the skin Sarcoma Lymphoma Osteopenia Meningioma Soft tissue sarcoma Squamous cell carcinoma Melanoma Basal cell carcinoma Papule Hodgkin lymphoma

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Hypophosphatemia Hyperparathyroidism Neoplasm of the endocrine system Neoplasm of the lung Primary hyperparathyroidism Nevus Parathyroid adenoma Carcinoid tumor Osteosarcoma Hypertension Prostate cancer Osteoporosis Parathyroid carcinoma Behavioral abnormality Cutaneous melanoma Lung adenocarcinoma Hypercalcemia Visual impairment Short stature Nephrolithiasis Gastrointestinal stroma tumor Rhabdomyosarcoma Atherosclerosis Leiomyosarcoma Dilatation Nephroblastoma Back pain Pruritus Depressivity Ovarian neoplasm Cataract Recurrent fractures Brain neoplasm Hyperkeratosis Freckling Tibial bowing Glioma Nasolacrimal duct obstruction Gangrene Night sweats Paraganglioma Myocardial fibrosis Anomalous pulmonary venous return Multiple cafe-au-lait spots Complete atrioventricular canal defect Pheochromocytoma Osteomalacia Aqueductal stenosis Severe vision loss Astrocytoma Overweight Increased reactive oxygen species production Neurofibromas Bone pain Pulmonary fibrosis Attention deficit hyperactivity disorder Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Malabsorption Pulmonic stenosis Paralysis Gastrointestinal hemorrhage Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Kyphoscoliosis Autism Weight loss Abnormality of skin pigmentation Specific learning disability Sensory axonal neuropathy Sensorimotor neuropathy Clitoral hypertrophy Precocious puberty Incoordination Reduced bone mineral density Venous thrombosis Spina bifida Renal phosphate wasting Overgrowth Cafe-au-lait spot Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Schwannoma Acute promyelocytic leukemia Chronic myelogenous leukemia Laryngeal carcinoma Hyperlipidemia Neoplasm of the liver Intestinal polyposis Chondrosarcoma Adenoma sebaceum Colonic diverticula Intestinal polyp Endometrial carcinoma Hereditary nonpolyposis colorectal carcinoma Hematological neoplasm Neoplasm of the stomach Sebaceous gland carcinoma Duodenal adenocarcinoma Keratoacanthoma Salivary gland neoplasm Transitional cell carcinoma of the bladder Adrenocortical carcinoma Neoplasm of the adrenal cortex Neoplasm of the colon Impaired lymphocyte transformation with phytohemagglutinin Plethora Monoclonal immunoglobulin M proteinemia Neoplasm of the nervous system Stomach cancer Benign gastrointestinal tract tumors Medulloblastoma Acute leukemia Progressive encephalopathy Acute lymphoblastic leukemia Benign genitourinary tract neoplasm Malignant genitourinary tract tumor Vasculitis Orthokeratosis Lisch nodules Renovascular hypertension Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renal artery stenosis Hyperactivity Single ventricle Pseudoarthrosis Epigastric pain Dural ectasia Fibular bowing Neoplasm of the central nervous system Subcutaneous neurofibromas Plexiform neurofibroma Hypergranulosis Palmoplantar keratoderma Parakeratosis Scaling skin Abnormality of the nail Thickened skin Epidermal acanthosis Abnormality of the skin Malignant mesothelioma Inguinal freckling Uveal melanoma Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Glaucoma Intellectual disability Abnormal heart morphology Coma Congestive heart failure Abnormality of the dentition Alopecia Rod-cone dystrophy Hypogonadism Diabetes mellitus Micropenis Proptosis Joint stiffness Retinopathy Retinal degeneration Nephropathy Small hand Hypopigmentation of the skin Chest pain Polyarticular chondrocalcinosis Convex nasal ridge Decreased testicular size Type II diabetes mellitus Myocardial infarction Sparse scalp hair Decreased body weight Abnormality of retinal pigmentation Insulin resistance Skin ulcer Abnormality of the hair Narrow face Increased bone mineral density Hoarse voice Hypergonadotropic hypogonadism Skeletal muscle atrophy Elevated alkaline phosphatase of bone origin Type I diabetes mellitus Cutaneous leiomyosarcoma Skin rash Abnormality of the musculature Low back pain Bladder neoplasm Papillary renal cell carcinoma Uterine leiomyoma Barrett esophagus Vaginal neoplasm Uterine leiomyosarcoma Cutaneous leiomyoma Multiple cutaneous leiomyomas Papillary renal cell carcinoma type 2 Decreased fumarate hydratase activity Renal insufficiency Calcium nephrolithiasis Generalized osteoporosis Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Parathyroid hyperplasia Retinoblastoma Peptic ulcer Elevated circulating parathyroid hormone level Abnormality of the kidney Hyperphosphaturia Polycystic kidney dysplasia Hypercalciuria Nephrocalcinosis Left ventricular hypertrophy Ventricular hypertrophy Spontaneous abortion Macular degeneration Visual loss Hypertelorism Arteriosclerosis Narrow nasal ridge Chorioretinitis Abnormal hair whorl Poliosis Subcutaneous calcification Neoplasm of the small intestine Gastrointestinal carcinoma Premature arteriosclerosis Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Seizures Scoliosis Abnormal facial shape Thyroid carcinoma Ptosis Cognitive impairment Anemia Delayed speech and language development Dysarthria Macrocephaly Abnormality of the skeletal system Respiratory insufficiency Hydrocephalus Cardiomyopathy Blindness Intellectual disability, mild Headache Abnormality of cardiovascular system morphology Enlarged joints White forelock Laryngomalacia Telangiectasia of the skin Dermal atrophy Lipodystrophy Abnormality of the voice Myelodysplasia Polydipsia Abnormality of the thorax Rocker bottom foot Polyuria High pitched voice Premature graying of hair Polyphagia Decreased fertility Lipoatrophy Aplasia/Hypoplasia of the skin Scleroderma Slender build Progeroid facial appearance Abnormality of the testis Pili torti Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Posterior subcapsular cataract Myeloid leukemia Pulmonary artery stenosis Alopecia of scalp Premature loss of teeth Subcapsular cataract Prematurely aged appearance Secondary amenorrhea Prostate neoplasm



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