Breast carcinoma, and Telangiectasia

Diseases related with Breast carcinoma and Telangiectasia

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


Top matches:

Medium 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

Medium 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 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 COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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 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 BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

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

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Meningioma Seizures Lymphoma Hamartomatous polyposis Hashimoto thyroiditis Skeletal muscle atrophy Intention tremor Cataract Diabetes mellitus Pectus excavatum Short stature Micrognathia Leukemia High palate Myopia Narrow mouth Hypothyroidism Hypoplasia of the maxilla Hearing impairment Kyphosis Gynecomastia Goiter Muscle weakness Hyperthyroidism Hodgkin lymphoma Sarcoma Multiple cafe-au-lait spots Intellectual disability, mild Palmoplantar hyperkeratosis Thyroiditis Furrowed tongue Fibroadenoma of the breast Transitional cell carcinoma of the bladder Neoplasm of the skin Squamous cell carcinoma Progressive macrocephaly Varicocele Thyroid adenoma Subcutaneous lipoma Colonic diverticula Ataxia Pain Ovarian cyst Angioid streaks of the fundus Neoplasm of the pancreas Skin tags Ovarian neoplasm Hydrocele testis Colon cancer

Rare Symptoms - Less than 30% cases


Myeloid leukemia Prematurely aged appearance Telangiectasia of the skin Hamartoma Neoplasm of the adrenal cortex Cutis marmorata Acute lymphoblastic leukemia Renal neoplasm Abnormality of the testis Cellular immunodeficiency Neoplasm of the breast Multiple lipomas Decreased proportion of CD4-positive T cells Mucosal telangiectasiae Nausea and vomiting Alopecia Neoplasm of the lung Lipoma Broad thumb Intestinal polyposis Subcutaneous nodule Myopathy Frontal bossing Macrocephaly Ovarian carcinoma Arteriovenous malformation Global developmental delay Premature graying of hair Soft tissue sarcoma Thyroid carcinoma Osteosarcoma Intracranial hemorrhage Aplasia/Hypoplasia of the skin Abnormality of the cardiovascular system Abnormality of the hair Pancreatic adenocarcinoma Abnormal cerebellum morphology Convex nasal ridge Abdominal pain Weight loss Jaundice Exocrine pancreatic insufficiency Failure to thrive Type II diabetes mellitus Cognitive impairment Neurological speech impairment Peripheral neuropathy Tremor Elevated hepatic transaminase Immunodeficiency Decreased antibody level in blood Recurrent infections Lymphopenia Cafe-au-lait spot Tall stature Renal cell carcinoma Abnormality of the vasculature Capillary hemangioma Scaphocephaly Increased level of L-fucose in urine Microcephaly Prolactin excess Nystagmus Abnormality of the optic nerve Acute myeloid leukemia Cellulitis Cystic hygroma Strabismus Papilledema Megalencephaly Chronic pancreatitis Long penis Generalized hyperkeratosis Fibroma Fatigue Papilloma Enlarged polycystic ovaries Cavernous hemangioma Bone cyst Macule Cachexia Astrocytoma Abnormality of the uterus Aortic aneurysm Pancreatitis Irregular hyperpigmentation Abnormality of the thyroid gland Melanocytic nevus Spasticity Cerebellar atrophy Macroglossia Gait disturbance Palmoplantar keratoderma Polymicrogyria Joint hypermobility Uterine neoplasm Papule Abdominal wall muscle weakness Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Dystonia Abnormal large intestine morphology Autism Overgrowth Dysarthria Adenoma sebaceum Flexion contracture Hand polydactyly Angina pectoris Dysdiadochokinesis Visceral angiomatosis Incoordination Anemia Hypopigmented skin patches Chronic diarrhea Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Subcutaneous hemorrhage Exotropia Neoplasm of the central nervous system Sebaceous gland carcinoma Nevus Monoclonal immunoglobulin M proteinemia Oropharyngeal squamous cell carcinoma Peritoneal abscess Pancreatic squamous cell carcinoma Nephroblastoma Progressive encephalopathy Acute leukemia Brain neoplasm Medulloblastoma Prostate cancer Rhabdomyosarcoma Stomach cancer Adrenocortical carcinoma Lung adenocarcinoma Neoplasm of the nervous system Plethora Extrahepatic cholestasis Long philtrum Wide nose Joint hyperflexibility Dolichocephaly Hypoglycemia Macrotia Delayed skeletal maturation Short nose Impaired lymphocyte transformation with phytohemagglutinin Anteverted nares Lymphedema Muscular hypotonia Prostate neoplasm Carious teeth Neoplasm of the colon Functional intestinal obstruction Intermittent diarrhea Onychomycosis Dilatation Neoplasm of the thyroid gland Hypoplasia of dental enamel Acrokeratosis Pseudopapilledema Basal cell carcinoma Colorectal polyposis Follicular thyroid carcinoma Cutis marmorata telangiectatica congenita Onycholysis Ridged nail Intestinal polyp Thin nail Patchy alopecia Abnormality of the penis Delayed gross motor development Enlarged cerebellum Intestinal pseudo-obstruction Lymphadenopathy Neoplasm of the liver Narrow palate Chronic fatigue Poor appetite Back pain Anorexia Hepatosplenomegaly Trichilemmoma Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Endometrial carcinoma Diarrhea Headache Decreased/absent ankle reflexes Congestive heart failure Hypertension Visual impairment Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Immunoglobulin IgG2 deficiency Behavioral abnormality Progressive spinal muscular atrophy Non-Hodgkin lymphoma Progressive cerebellar ataxia Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Abnormality of the dentition Rod-cone dystrophy Elevated alpha-fetoprotein Small hand Sparse scalp hair Myocardial infarction Decreased testicular size Chest pain Coma Hypopigmentation of the skin Nephropathy Osteoporosis Retinal degeneration Retinopathy Joint stiffness Proptosis Micropenis Hyperkeratosis Hypogonadism Chorea Abnormal spermatogenesis Abnormality of retinal pigmentation Glucose intolerance Limb ataxia Abnormality of the immune system Sinusitis Abnormal vertebral morphology Resting tremor Combined immunodeficiency Athetosis IgA deficiency Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Bronchiectasis Choreoathetosis Chronic myelogenous leukemia Lymphoproliferative disorder Conjunctival telangiectasia Abnormality of chromosome stability Hepatitis Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Apraxia Hypopigmentation of hair B-cell lymphoma Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Pancytopenia Hepatocellular carcinoma Decreased body weight Insulin resistance Pneumonia Poliosis Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Abnormal hair whorl Distal muscle weakness Chorioretinitis Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints Delayed puberty White forelock Acral lentiginous melanoma Generalized hypotonia Pili torti Downslanted palpebral fissures Recurrent respiratory infections Truncal ataxia Myoclonus Atrial septal defect Hydrocephalus Gait ataxia Difficulty walking Abnormality of the liver Brachydactyly Motor delay Delayed speech and language development Anxiety Low-set ears Respiratory tract infection Hypertelorism Slender build Chondrocalcinosis Skin ulcer Laryngomalacia Polydipsia Myelodysplasia Abnormality of the voice Lipodystrophy Dermal atrophy Polyneuropathy Atherosclerosis Rocker bottom foot Macular degeneration Type I diabetes mellitus Spontaneous abortion Hypergonadotropic hypogonadism Hoarse voice Increased bone mineral density Narrow face Abnormality of the thorax Polyuria Lack of skin elasticity Distal amyotrophy Peripheral arterial stenosis Abnormality of the cerebral vasculature Abnormality of eye movement Abnormality of movement Progeroid facial appearance Posterior subcapsular cataract Unsteady gait Alopecia of scalp High pitched voice Premature loss of teeth Subcapsular cataract Secondary amenorrhea Scleroderma Lipoatrophy Decreased fertility Polyphagia Pulmonary artery stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brachycephaly, related diseases and genetic alterations Wide nasal bridge and Short philtrum, related diseases and genetic alterations Depressed nasal bridge and Talipes, related diseases and genetic alterations Spasticity and Weight loss, related diseases and genetic alterations

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