Breast carcinoma, and Pruritus

Diseases related with Breast carcinoma and Pruritus

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


Top matches:

Medium 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

Medium 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 PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1


Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013). Genetic Heterogeneity of Central Precocious PubertyCentral precocious puberty-2 (CPPB2 ) is caused by mutation in the MKRN3 gene (OMIM ) on chromosome 15q11.

Related symptoms:

  • Short stature
  • Neoplasm
  • Obesity
  • Hypothyroidism
  • Abnormality of the cardiovascular system


SOURCES: OMIM MENDELIAN

More info about PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1

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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 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Low match APOCRINE GLAND SECRETION, VARIATION IN


APOCRINE GLAND SECRETION, VARIATION IN Is also known as cerumen, variation in|wet wax|ww|colostrum secretion, variation in|ear wax, wet/dry|axillary odor, variation in|ewwd

Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Abnormality of the ear


SOURCES: OMIM MENDELIAN

More info about APOCRINE GLAND SECRETION, VARIATION IN

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match PROSTATE CANCER


The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may include Problems passing urine, such as pain, difficulty starting or stopping the stream, or dribbling Low back pain Pain with ejaculation To diagnose prostate cancer, you doctor may do a digital rectal exam to feel the prostate for lumps or anything unusual. You may also get a blood test for prostate-specific antigen (PSA). These tests are also used in prostate cancer screening, which looks for cancer before you have symptoms. If your results are abnormal, you may need more tests, such as an ultrasound, MRI, or biopsy. Treatment often depends on the stage of the cancer. How fast the cancer grows and how different it is from surrounding tissue helps determine the stage. Men with prostate cancer have many treatment options. The treatment that's best for one man may not be best for another. The options include watchful waiting, surgery, radiation therapy, hormone therapy, and chemotherapy. You may have a combination of treatments. NIH: National Cancer Institute

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Neoplasm of the skin
  • Breast carcinoma
  • Neoplasm of the lung


SOURCES: OMIM MENDELIAN

More info about PROSTATE CANCER

Low match COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4


Related symptoms:

  • Neoplasm
  • Carcinoma
  • Breast carcinoma
  • Squamous cell carcinoma
  • Ovarian neoplasm


SOURCES: OMIM MESH MENDELIAN

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4

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

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Ovarian neoplasm

Rare Symptoms - Less than 30% cases


Hypermelanotic macule Facial asymmetry Cognitive impairment Hypertension Abnormality of the skeletal system Hydrocephalus Blindness Headache Dilatation Abnormality of cardiovascular system morphology Abnormal heart morphology Weight loss Overgrowth Abnormality of skin pigmentation Abdominal pain Abnormality of the cardiovascular system Cafe-au-lait spot Ptosis Precocious puberty Anomalous pulmonary venous return Obesity Accelerated skeletal maturation Hyperhidrosis Macule Spina bifida Coloboma Gastrointestinal stroma tumor Leukemia Scoliosis Back pain Intellectual disability Leiomyosarcoma Papule Short metacarpal Ectodermal dysplasia Intestinal malrotation Neoplasm of the lung Broad nasal tip Hypodontia Prostate cancer Caudal appendage Delayed eruption of teeth Dental malocclusion Cleft upper lip Abnormality of the foot Toe syndactyly Hypotrichosis Nail dystrophy Finger syndactyly Iris coloboma Postaxial hand polydactyly Nail dysplasia Short phalanx of finger Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Pointed chin Increased body weight Abnormality of the nail Short ribs Hoarse voice Abnormality of epiphysis morphology Abnormality of the skin Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Omphalocele Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Squamous cell carcinoma Cough Corneal opacity Brachydactyly Hernia Microphthalmia Syndactyly Abnormality of the dentition Ventricular septal defect Dysphagia Optic atrophy Intrauterine growth retardation Low-set ears Clinodactyly Cryptorchidism Cleft palate Strabismus Micrognathia Nystagmus Growth delay Microcephaly Hearing impairment Endometrial carcinoma Patent ductus arteriosus Microtia Cleft lip Spina bifida occulta Camptodactyly of finger Abnormal cardiac septum morphology Scarring Sparse hair Erythema Abnormality of the pinna Camptodactyly Joint laxity Inguinal hernia Ovarian carcinoma Hydronephrosis Umbilical hernia Gastroesophageal reflux Reduced visual acuity Polydactyly Agenesis of corpus callosum Alopecia Abnormality of dental enamel Arnold-Chiari malformation Renal hypoplasia/aplasia Labial hypoplasia Abnormal cornea morphology Ectopia cordis Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Hypoplasia of teeth Cholangitis Abnormality of the larynx Total anomalous pulmonary venous return Verrucae Ulcerative colitis Lower limb asymmetry Linear hyperpigmentation Hypoplastic pelvis Duodenal atresia Cholesteatoma Acute hepatic failure Abnormality of hair texture Bifid ureter Truncus arteriosus Abnormality of the middle ear Abnormal palmar dermatoglyphics Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the mediastinum Cleft ala nasi Papilloma Rough bone trabeculation Osteopathia striata Absent toenail Clitoral hypoplasia Nonproductive cough Abnormality of the pulmonary vasculature Abnormal adipose tissue morphology Inspiratory stridor Diastasis recti Myelomeningocele Oligodontia Ectropion Short finger Supernumerary nipple Open bite Mild short stature Anophthalmia Abnormality of dental morphology Stridor Chorioretinal coloboma Ectopia lentis Colitis Hand polydactyly Brittle hair Short metatarsal Midclavicular aplasia Dermal atrophy Reduced number of teeth Recurrent skin infections Ridged fingernail Abnormality of the ear Vertebral fusion Stenosis of the external auditory canal Short clavicles Apocrine hidrocystoma Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Giant cell tumor of bone Oligodactyly Narrow nasal bridge Ectrodactyly Facial cleft Aplasia cutis congenita Midclavicular hypoplasia Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Mixed hearing impairment Biliary tract abnormality Hypopigmentation of the skin Specific learning disability Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Gastrointestinal hemorrhage Venous thrombosis Lymphoma Recurrent fractures Peripheral axonal neuropathy Paresthesia Genu valgum Malabsorption Pulmonic stenosis Attention deficit hyperactivity disorder Atherosclerosis Reduced bone mineral density Autistic behavior Osteomalacia Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Multiple cafe-au-lait spots Incoordination Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Sarcoma Paralysis Hypertrophic cardiomyopathy Aqueductal stenosis Papillary renal cell carcinoma Decreased fumarate hydratase activity Papillary renal cell carcinoma type 2 Multiple cutaneous leiomyomas Cutaneous leiomyoma Uterine leiomyosarcoma Vaginal neoplasm Barrett esophagus Uterine leiomyoma Bladder neoplasm Seizures Low back pain Renal neoplasm Abnormality of the musculature Basal cell carcinoma Nephroblastoma Hematuria Skin rash Cataract Cutaneous leiomyosarcoma Hypertelorism Hypoglycemia Intellectual disability, mild Osteopenia Kyphoscoliosis Autism Glaucoma Hyperactivity Osteoporosis Visual loss Depressivity Behavioral abnormality Abnormal facial shape Cardiomyopathy Respiratory insufficiency Macrocephaly Dysarthria Peripheral neuropathy Visual impairment Delayed speech and language development Anemia Astrocytoma Parathyroid adenoma Precocious puberty with Sertoli cell tumor Melanocytic nevus Neoplasm of the pancreas Abnormality of the mouth Vitiligo Abnormality of the ureter Iron deficiency anemia Hamartoma Intestinal obstruction Clubbing Psoriasiform dermatitis Multiple myeloma Polycystic kidney dysplasia Growth abnormality Hemangioma Gynecomastia Nevus Abdominal distention Abnormality of the kidney Diarrhea Clubbing of fingers Ovarian cyst Isosexual precocious puberty Testicular neoplasm Endolymphatic sac tumor Congenital shortened small intestine Thyroid nodule Uterine neoplasm Gastrointestinal carcinoma Clear cell renal cell carcinoma Intussusception Intestinal polyp Bloody diarrhea Intestinal polyposis Thrombophlebitis Hematemesis Intestinal bleeding Hamartomatous polyposis Neoplasm of the breast Nasal polyposis Rectal prolapse Pancreatic cysts Edema Premature thelarche Pheochromocytoma Chronic myelogenous leukemia Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Neoplasm of the central nervous system Lisch nodules Renal phosphate wasting Renovascular hypertension Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Complete atrioventricular canal defect Renal artery stenosis Axillary freckling Adrenogenital syndrome Arterial fibromuscular dysplasia Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Acne Type II diabetes mellitus Hypothyroidism Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Spinal neurofibromas Embryonal rhabdomyosarcoma Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Hereditary nonpolyposis colorectal carcinoma



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