Breast carcinoma, and Skin rash

Diseases related with Breast carcinoma and Skin rash

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Skin rash 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

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

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

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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 COWDEN SYNDROME 7; CWS7


Related symptoms:

  • Neoplasm
  • Macrocephaly
  • Papule
  • Neoplasm of the skin
  • Hemangioma


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 7; CWS7

Low match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Top 5 symptoms//phenotypes associated to Breast carcinoma and Skin rash

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cataract 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 Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal cell carcinoma Alopecia Pain Strabismus Abnormality of the cardiovascular system Microphthalmia Visual impairment Abnormality of skin pigmentation Scoliosis Papule Weight loss Carcinoma

Rare Symptoms - Less than 30% cases


Hyperkeratosis Erythema Attention deficit hyperactivity disorder Ovarian neoplasm Delayed eruption of teeth Hamartomatous polyposis Hypodontia Tetraplegia Hemangioma Neoplasm of the pancreas Malabsorption Meningioma Ovarian cyst Intestinal polyposis Abnormal blistering of the skin Visual loss Global developmental delay Hyperactivity Retinal vascular proliferation Intellectual disability, mild Retinal hemorrhage Supernumerary ribs Macrocephaly Goiter Delayed speech and language development Eosinophilia Cognitive impairment Muscular hypotonia Autism Uveitis Supernumerary nipple Kyphoscoliosis Keratitis Gynecomastia Retinal detachment Nevus Failure to thrive Leukemia Pruritus Hashimoto thyroiditis Neoplasm of the skin Back pain Fibroadenoma of the breast Leiomyosarcoma Ataxia Gastrointestinal stroma tumor Hypothyroidism Microcephaly Cafe-au-lait spot Accelerated skeletal maturation Precocious puberty Autistic behavior Spasticity Hypertension Headache Diarrhea Dilatation Hyperhidrosis Abdominal pain Optic atrophy Fever Breast aplasia Diabetes mellitus Hyperpigmented streaks Jaundice Fatigue Nail dystrophy Scarring alopecia of scalp Hypohidrotic ectodermal dysplasia Scarring Nail pits Atrophic, patchy alopecia Sparse hair Ductal carcinoma in situ Trichilemmoma Breast hypoplasia Papillary thyroid carcinoma Papilloma Pallor Recurrent infections Gait disturbance Congestive heart failure Telangiectasia Thick nail Pancreatitis Pancreatic adenocarcinoma Hypopigmentation of the skin Nail dysplasia Fine hair Lymphedema Hyperpigmentation of the skin Abnormality of the dentition Increased bone mineral density Hemivertebrae Coarse hair Increased level of L-fucose in urine Hyperostosis Hypoplastic nipples Generalized osteosclerosis Chronic pancreatitis Pustule Immunodeficiency Hypoplasia of the fovea Anodontia Conical tooth Exocrine pancreatic insufficiency Colon cancer Melanoma Ridged nail Ectodermal dysplasia Abnormality of the vasculature Hypopigmented skin patches Cerebral cortical atrophy Delayed gross motor development Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Aspiration pneumonia Hypoventilation Leukopenia Micrognathia Aspiration Spastic tetraplegia Febrile seizures Iris coloboma Lethargy Coloboma Agenesis of corpus callosum Pneumonia Hearing impairment High palate Thrombocytopenia Hydrocele testis Progressive macrocephaly Varicocele Thyroid adenoma Angioid streaks of the fundus Colonic diverticula Subcutaneous lipoma Furrowed tongue Skin tags Myopia Thyroiditis Hyperthyroidism Palmoplantar hyperkeratosis Intention tremor Hypoplasia of the maxilla Narrow mouth Pectus excavatum Kyphosis Encephalopathy Cerebral atrophy Umbilical hernia Abnormality of dental enamel Telangiectasia of the skin Hemiplegia/hemiparesis Abnormality of dental morphology Encephalitis Spina bifida occulta Osteolysis Abnormality of the fingernails Abnormality of the nail Irregular hyperpigmentation Abnormality of the hair Skin ulcer Blue sclerae Pulmonary arterial hypertension Oral cleft Corneal opacity Finger syndactyly Camptodactyly of finger Abnormality of immune system physiology Hearing abnormality Hypertonia Abnormal hand morphology Ventriculomegaly Hepatomegaly Motor delay Nystagmus Growth delay Generalized hypotonia Broad nail Ridged fingernail Abnormal toenail morphology Abnormal chorioretinal morphology Absent hand Asymmetric growth Deviation of finger Cerebral ischemia Verrucae Hypoplastic fingernail Dystrophic toenail Abnormality of the thyroid gland Chronic myelogenous leukemia Brow ptosis Hematemesis Gastrointestinal carcinoma Clear cell renal cell carcinoma Intussusception Intestinal polyp Testicular neoplasm Bloody diarrhea Thrombophlebitis Intestinal bleeding Thyroid nodule Neoplasm of the breast Nasal polyposis Rectal prolapse Biliary tract abnormality Pancreatic cysts Multiple myeloma Clubbing of fingers Uterine neoplasm Congenital shortened small intestine Vitiligo Respiratory insufficiency Abnormal heart morphology Depressivity Abnormality of cardiovascular system morphology Behavioral abnormality Blindness Cardiomyopathy Hydrocephalus Abnormality of the skeletal system Endolymphatic sac tumor Dysarthria Peripheral neuropathy Anemia Ptosis Abnormal facial shape Hypertelorism Precocious puberty with Sertoli cell tumor Abnormality of the mouth Abnormality of the ureter Glaucoma Uterine leiomyoma Decreased fumarate hydratase activity Papillary renal cell carcinoma type 2 Multiple cutaneous leiomyomas Cutaneous leiomyoma Uterine leiomyosarcoma Vaginal neoplasm Barrett esophagus Papillary renal cell carcinoma Obesity Bladder neoplasm Low back pain Renal neoplasm Abnormality of the musculature Basal cell carcinoma Nephroblastoma Hematuria Cutaneous leiomyosarcoma Type II diabetes mellitus Iron deficiency anemia Polycystic kidney dysplasia Hamartoma Macule Hypermelanotic macule Intestinal obstruction Clubbing Melanocytic nevus Psoriasiform dermatitis Growth abnormality Acne Abdominal distention Abnormality of the kidney Edema Isosexual precocious puberty Premature thelarche Adrenogenital syndrome Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Osteoporosis Osteopenia Tibial pseudoarthrosis Carcinoid tumor Neoplasm of the central nervous system Lisch nodules Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Dural ectasia Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Fibular bowing Epigastric pain Myocardial fibrosis Optic nerve glioma Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Neurofibrosarcoma Soft tissue sarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Brain neoplasm Neoplasm of the endocrine system Hypoglycemia Lymphoma Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Overgrowth Specific learning disability Gastrointestinal hemorrhage Recurrent fractures Bone pain Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Pulmonic stenosis Paralysis Hypertrophic cardiomyopathy Aganglionic megacolon Sensorimotor neuropathy Gangrene Neurofibromas Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Pulmonary fibrosis Spina bifida Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Sarcoma Incoordination Reduced bone mineral density Venous thrombosis Atherosclerosis Transitional cell carcinoma of the bladder



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