Breast carcinoma, and Erythema

Diseases related with Breast carcinoma and Erythema

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


Top matches:

Low match FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME


Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.

FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME Is also known as telangiectasia, cutaneous, and cancer syndrome, familial

Related symptoms:

  • Neoplasm
  • Alopecia
  • Carcinoma
  • Carious teeth
  • Convex nasal ridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CUTANEOUS TELANGIECTASIA AND OROPHARYNGEAL CANCER PREDISPOSITION SYNDROME

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 ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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Other less relevant matches:

Low match FAMILIAL PANCREATIC CARCINOMA


Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

FAMILIAL PANCREATIC CARCINOMA Is also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|fammmpc|familial pancreatic cancer

Related symptoms:

  • Neoplasm
  • Diabetes mellitus
  • Abdominal pain
  • Weight loss
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PANCREATIC CARCINOMA

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

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

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

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

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Melanoma Diabetes mellitus Leukemia Microcephaly Short stature Neoplasm of the pancreas Gynecomastia Colon cancer Sarcoma Narrow mouth Scoliosis Intention tremor Telangiectasia Alopecia Squamous cell carcinoma Meningioma

Rare Symptoms - Less than 30% cases


Myeloid leukemia Telangiectasia of the skin Hyperthyroidism Aplasia/Hypoplasia of the skin Thyroiditis Premature graying of hair Hashimoto thyroiditis Skin tags Hydrocele testis Furrowed tongue Hamartomatous polyposis Ovarian cyst Palmoplantar hyperkeratosis Subcutaneous lipoma Colonic diverticula Neoplasm of the lung Angioid streaks of the fundus Recurrent pneumonia Thyroid adenoma Abnormality of the hair Varicocele Progressive macrocephaly Transitional cell carcinoma of the bladder Fibroadenoma of the breast Prematurely aged appearance Visual impairment Hodgkin lymphoma High palate Abnormality of the dentition Hyperkeratosis Hypopigmentation of the skin Nail dystrophy Abnormal blistering of the skin Sparse scalp hair Fine hair Increased bone mineral density Hearing impairment Micrognathia Soft tissue sarcoma Abnormality of the cardiovascular system Osteosarcoma Type II diabetes mellitus Abnormality of the testis Myopia Renal neoplasm Intellectual disability, mild Kyphosis Pectus excavatum Hypothyroidism Acute lymphoblastic leukemia Fever Hypoplasia of the maxilla Goiter Lymphoma Strabismus Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Onycholysis Skeletal muscle atrophy Peripheral neuropathy Spasticity Failure to thrive Elevated hepatic transaminase Pancreatic adenocarcinoma Exocrine pancreatic insufficiency Ataxia Ovarian neoplasm Jaundice Weight loss Pain Abdominal pain Neoplasm of the skin Ridged nail Convex nasal ridge Respiratory tract infection Chorioretinitis Abnormality of the cerebral vasculature Prostate cancer Hypohidrotic ectodermal dysplasia Rhabdomyosarcoma Stomach cancer Adrenocortical carcinoma Lung adenocarcinoma Scarring alopecia of scalp Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Supernumerary ribs Plethora Hyperpigmented streaks Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the colon Neoplasm of the adrenal cortex Prostate neoplasm Hypertelorism Progeroid facial appearance Posterior subcapsular cataract Muscular hypotonia Pulmonary artery stenosis Retinal vascular proliferation Medulloblastoma Acute leukemia Brain neoplasm White forelock Nail pits Abnormal hair whorl Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints Poliosis Subcutaneous calcification Neoplasm of the small intestine Gastrointestinal carcinoma Thyroid carcinoma Premature arteriosclerosis Progressive encephalopathy Slender build Renal insufficiency Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Pili torti Retinal hemorrhage Chondrocalcinosis Lack of skin elasticity Acral lentiginous melanoma Nephroblastoma Peripheral arterial stenosis Respiratory distress Round face Prominent forehead Tetraplegia Supernumerary nipple Hyperostosis Premature loss of teeth Keratitis Coarse hair Eosinophilia Hemivertebrae Hyperpigmentation of the skin Lymphedema Nail dysplasia Ectodermal dysplasia Nevus Hypodontia Uveitis Delayed eruption of teeth Retinal detachment Abnormality of skin pigmentation Malabsorption Optic atrophy Microphthalmia Visual loss Papule Kyphoscoliosis Skin rash Pallor Sparse hair Hypoplastic nipples Pustule Breast aplasia Neonatal respiratory distress Macrotia Proteinuria Narrow chest Scarring Breast hypoplasia Cyanosis Nephrotic syndrome Abnormal lung morphology Sparse and thin eyebrow Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Focal segmental glomerulosclerosis Abnormality of the vasculature Ectopic kidney Interstitial pulmonary abnormality Fragile skin Tubular atrophy Decreased glomerular filtration rate Crossed fused renal ectopia Respiratory acidosis Junctional split Generalized osteosclerosis Thick nail Conical tooth Anodontia Hypoplasia of the fovea Alopecia of scalp Decreased testicular size Subcapsular cataract Lymphopenia Polycystic ovaries Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Truncal ataxia Abnormal vertebral morphology Athetosis Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Choreoathetosis Pancytopenia Apraxia Spinal muscular atrophy Glucose intolerance Decreased antibody level in blood Chromosome breakage Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder B-cell lymphoma Recurrent bronchitis Recurrent lower respiratory tract infections Combined immunodeficiency Severe combined immunodeficiency Hepatocellular carcinoma Hypopigmentation of hair IgA deficiency Abnormality of the immune system Multiple cafe-au-lait spots Resting tremor Hepatitis Chorea Cellular immunodeficiency Pancreatitis Anemia Cognitive impairment Muscle weakness Nystagmus Increased level of L-fucose in urine Chronic pancreatitis Fatigue Dysarthria Sebaceous gland carcinoma Onychomycosis Patchy alopecia Thin nail Basal cell carcinoma Hypoplasia of dental enamel Carious teeth Flexion contracture Tremor Progressive cerebellar ataxia Neurological speech impairment Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Delayed puberty Distal muscle weakness Gait disturbance Abnormality of the liver Anxiety Difficulty walking Gait ataxia Myoclonus Dystonia Cerebellar atrophy Chronic lymphatic leukemia Abnormality of chromosome stability Secondary amenorrhea Chest pain Narrow face Skin ulcer Insulin resistance Abnormality of retinal pigmentation Decreased body weight Myocardial infarction Coma Hypergonadotropic hypogonadism Small hand Nephropathy Retinal degeneration Retinopathy Joint stiffness Proptosis Micropenis Hoarse voice Spontaneous abortion Osteoporosis Abnormality of the thorax Scleroderma Lipoatrophy Decreased fertility Polyphagia High pitched voice Polyuria Rocker bottom foot Polydipsia Type I diabetes mellitus Myelodysplasia Abnormality of the voice Lipodystrophy Dermal atrophy Laryngomalacia Atherosclerosis Macular degeneration Hypogonadism Rod-cone dystrophy Conjunctival telangiectasia Aplasia/Hypoplasia of the thymus Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Increased sensitivity to ionizing radiation Defective B cell differentiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia IgE deficiency Hepatosplenomegaly Behavioral abnormality Extrahepatic cholestasis Congestive heart failure Hypertension Pancreatic squamous cell carcinoma Peritoneal abscess Oropharyngeal squamous cell carcinoma Functional intestinal obstruction Ovarian carcinoma Intermittent diarrhea Nausea and vomiting Intestinal pseudo-obstruction Neoplasm of the liver Chronic fatigue Poor appetite Back pain Anorexia Lymphadenopathy Atrophic, patchy alopecia



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