Breast carcinoma, and Pheochromocytoma

Diseases related with Breast carcinoma and Pheochromocytoma

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


Top matches:

High 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

Medium match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Medium 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

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Other less relevant matches:

Medium match GARDNER SYNDROME


Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about GARDNER SYNDROME

Low match HYPERPLASTIC POLYPOSIS SYNDROME


Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.

HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about HYPERPLASTIC POLYPOSIS SYNDROME

Low match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

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 APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as apc-related afap|apc-related attenuated familial polyposis coli|apc-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Parathyroid adenoma Uncommon - Between 30% and 50% cases
Recurrent fractures Uncommon - Between 30% and 50% cases
Cafe-au-lait spot Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Schwannoma Sarcoma Hemangioma Neurofibromas Carcinoma Neoplasm of the endocrine system Pituitary adenoma

Rare Symptoms - Less than 30% cases


Profuse pigmented skin lesions Thyroid follicular hyperplasia Goiter Cardiac myxoma Vestibular Schwannoma Fibroadenoma of the breast Bone pain Thyroid carcinoma Venous thrombosis Carcinoid tumor Parathyroid carcinoma Paraganglioma Precocious puberty Hypophosphatemia Nephrolithiasis Freckling Primary hyperparathyroidism Astrocytoma Hyperparathyroidism Papule Hypercalcemia Hirsutism Anemia Pituitary prolactin cell adenoma Neoplasm of the skin Stroke Macrocephaly Congestive heart failure Testicular neoplasm Hypermelanotic macule Hypertension Ovarian neoplasm Nevus Growth hormone excess Increased circulating cortisol level Multiple lentigines Short stature Weight loss Scoliosis Red hair Subcutaneous nodule Osteoporosis Pain Osteochondroma Enlarged polycystic ovaries Ventricular hypertrophy Left ventricular hypertrophy Hypercalciuria Neoplasm of the breast Polycystic kidney dysplasia Nephrocalcinosis Adrenal pheochromocytoma Abnormality of the kidney Blue nevus Increased urinary cortisol level Abnormal prolactin level Nodular goiter Recurrent paroxysmal headache Hypertension associated with pheochromocytoma Uterine neoplasm Histiocytoma Pigmented micronodular adrenocortical disease Hepatocellular adenoma Pancreatic adenocarcinoma Renal insufficiency Thyroid adenoma Peripheral Schwannoma Abnormal pigmentation of the oral mucosa Pigmentation of the sclera Sertoli cell neoplasm Adrenocortical carcinoma Abnormality of circulating adrenocorticotropin level Intra-oral hyperpigmentation Pituitary growth hormone cell adenoma Bronchogenic cyst Intellectual disability Hyperphosphaturia Blue irides Abnormality of the eye Confusion Abnormality of the skin Palpitations Tall stature Gynecomastia Increased body weight Ischemic stroke Heart murmur Macule Striae distensae Bipolar affective disorder Macroorchidism Proximal muscle weakness Generalized hypopigmentation Fibroma Follicular hyperplasia Follicular thyroid carcinoma Uterine leiomyoma Myxoid subcutaneous tumors Cutaneous myxoma Abnormality of the thyroid gland Hashimoto thyroiditis Intestinal polyposis Papilloma Papillary thyroid carcinoma Trichilemmoma Myalgia Dyspnea Elevated circulating parathyroid hormone level Osteolysis Generalized osteoporosis Peptic ulcer Retinoblastoma Parathyroid hyperplasia Aortic valve calcification Hypoplasia of the musculature Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Growth delay Dysphagia Cranial nerve paralysis Respiratory distress Cerebral palsy Pathologic fracture Exostoses Osteosarcoma Chondrosarcoma Multiple exostoses Multiple enchondromatosis Hemangiomatosis Neoplasm of the adrenal cortex Neoplasm of the parathyroid gland Muscle weakness Fever Fatigue Mitral valve calcification Tibial pseudoarthrosis Stomach cancer Lymphoma Paralysis Attention deficit hyperactivity disorder Leukemia Pruritus Pulmonic stenosis Malabsorption Genu valgum Facial asymmetry Paresthesia Peripheral axonal neuropathy Abnormality of skin pigmentation Gastrointestinal hemorrhage Hypertrophic cardiomyopathy Specific learning disability Overgrowth Tetralogy of Fallot Abnormality of the cardiovascular system Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Aganglionic megacolon Sensorimotor neuropathy Spina bifida Atherosclerosis Autistic behavior Hypoglycemia Incoordination Cardiomyopathy Hypertelorism Abnormal facial shape Ptosis Cognitive impairment Delayed speech and language development Visual impairment Peripheral neuropathy Dysarthria Abnormality of the skeletal system Respiratory insufficiency Hydrocephalus Blindness Kyphoscoliosis Behavioral abnormality Intellectual disability, mild Headache Dilatation Abnormality of cardiovascular system morphology Depressivity Visual loss Abnormal heart morphology Hyperactivity Glaucoma Autism Reduced bone mineral density Back pain Ovarian cyst Acute promyelocytic leukemia Soft tissue sarcoma Pseudoarthrosis Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Neuroma Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Plexiform neurofibroma Dural ectasia Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Seizures Brow ptosis Sudden cardiac death Polycystic ovaries Colon cancer Neoplasm of the pancreas Prolactin excess Epigastric pain Leiomyosarcoma Clitoral hypertrophy Myocardial fibrosis Sensory axonal neuropathy Pulmonary fibrosis Tibial bowing Multiple cafe-au-lait spots Osteomalacia Renal cell carcinoma Severe vision loss Overweight Increased reactive oxygen species production Gangrene Meningioma Brain neoplasm Fibular bowing Aqueductal stenosis Complete atrioventricular canal defect Anomalous pulmonary venous return Night sweats Rhabdomyosarcoma Nasolacrimal duct obstruction Glioma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Ductal carcinoma in situ



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