Breast carcinoma, and Dilatation

Diseases related with Breast carcinoma and Dilatation

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


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Medium match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

Medium 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 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

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Other less relevant matches:

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 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 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 MUIR-TORRE SYNDROME


Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.

MUIR-TORRE SYNDROME Is also known as cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas|multiple keratoacanthoma, muir-torre type

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Nevus
  • Lymphoma


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUIR-TORRE SYNDROME

Low match CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as combined 17-hydroxylase/17,20-lyase deficiency|cah due to 17-alpha-hydroxylase deficiency

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypertension
  • Hypospadias


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Low match CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY Is also known as cah due to 11-beta-hydroxylase deficiency|cyp11b1 deficiency

Related symptoms:

  • Short stature
  • Feeding difficulties
  • Hypertension
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Intestinal polyposis Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Lymphoma Gynecomastia Carcinoma Intestinal polyp Hamartoma Ovarian neoplasm Reduced bone mineral density Osteoporosis Nevus Meningioma Headache Macrocephaly Multiple cafe-au-lait spots Scoliosis Seizures Hodgkin lymphoma Pain Intellectual disability Delayed skeletal maturation Leukemia Hamartomatous polyposis Enlarged polycystic ovaries

Rare Symptoms - Less than 30% cases


Astrocytoma Congenital adrenal hyperplasia Increased circulating ACTH level Long penis Cognitive impairment Decreased circulating renin level Decreased fertility in females Delayed speech and language development Muscle weakness Micrognathia Uterine neoplasm Hypoplasia of the vagina Incoordination Failure to thrive Hypoglycemia Neoplasm of the central nervous system Cafe-au-lait spot Clitoral hypertrophy Overgrowth Endometrial carcinoma Colonic diverticula Adenoma sebaceum Polycystic ovaries Hypokalemia Decreased fertility Hydrocephalus Autism Generalized hyperpigmentation Aortic root aneurysm Primary adrenal insufficiency Adrenocorticotropic hormone excess Abnormal EKG Hyperaldosteronism Global developmental delay Decreased circulating cortisol level Intellectual disability, mild Hypertelorism Tall stature Neoplasm of the pancreas Hashimoto thyroiditis Hemangioma Accelerated skeletal maturation Abnormality of the kidney Diarrhea Multiple lipomas Transitional cell carcinoma of the bladder Cutis marmorata Decreased fertility in males Lipoma Colon cancer Subcutaneous nodule Telangiectasia Intracranial hemorrhage Neoplasm of the skin Palmoplantar keratoderma Papule Depressivity Melanocytic nevus Broad thumb Frontal bossing Hypervolemia Neoplasm of the breast Macule Myopathy Abnormal circulating aldosterone Pectus excavatum Arteriovenous malformation Ovarian cyst Skeletal muscle atrophy Merkel cell skin cancer Ductal carcinoma in situ Dysdiadochokinesis Cavernous hemangioma Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Hand polydactyly Cutis marmorata telangiectatica congenita Trichilemmoma Cellular immunodeficiency Multiple trichilemmomata Neoplasm of the thyroid gland Lobular carcinoma in situ Muscular hypotonia Anteverted nares Short nose Long philtrum Bone cyst Palmoplantar hyperkeratosis Macrotia Neurological speech impairment Dolichocephaly Joint hyperflexibility Wide nose Furrowed tongue Fibroadenoma of the breast Progressive macrocephaly Acrokeratosis Decreased proportion of CD4-positive T cells Abnormality of the vasculature Papilloma Thyroiditis Hyperthyroidism Fibroma Papilledema Acute myeloid leukemia Prolactin excess Cellulitis Cystic hygroma Generalized hyperkeratosis Skin tags Megalencephaly Mucosal telangiectasiae Abnormality of the thyroid gland Hydrocele testis Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Thyroid adenoma Varicocele Follicular thyroid carcinoma Colorectal polyposis Scaphocephaly Pseudopapilledema Abnormality of the uterus Laryngeal carcinoma Lymphedema Abnormality of creatine metabolism Bilateral cryptorchidism Hyponatremia Ambiguous genitalia Hirsutism Stroke Vomiting Feeding difficulties Decreased circulating androgen level Abnormal sex determination Renal salt wasting Female external genitalia in individual with 46,XY karyotype Dysmenorrhea Primary gonadal insufficiency Ambiguous genitalia, male Elevated circulating luteinizing hormone level Absence of secondary sex characteristics Decreased serum estradiol Decreased serum testosterone level Hyperkalemia Menstrual irregularities Sparse pubic hair Increased circulating androgen level Early onset of sexual maturation Female sexual dysfunction Abnormality of the labia majora Hyperpigmented genitalia Accelerated bone age after puberty Ectopic adrenal gland Abnormality of prenatal development or birth Fused labia minora Enlarged ovaries Abnormal vagina morphology Premature adrenarche Hypernatriuria Adrenogenital syndrome Ambiguous genitalia, female Hypovolemia Abnormality of the menstrual cycle Urogenital sinus anomaly Decreased circulating aldosterone level Elevated circulating follicle stimulating hormone level Sparse axillary hair Narrow palate Subcutaneous hemorrhage Renal neoplasm Basal cell carcinoma Hyperlipidemia Vasculitis Abnormality of the ear Neoplasm of the adrenal cortex Abnormal large intestine morphology Abdominal wall muscle weakness Visceral angiomatosis Chondrosarcoma Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Aortic aneurysm Cachexia Delayed gross motor development Neoplasm of the liver Hereditary nonpolyposis colorectal carcinoma Male pseudohermaphroditism Cryptorchidism Sparse body hair Hypoplasia of the uterus Hypergonadotropic hypogonadism Primary amenorrhea Decreased testicular size Delayed puberty Micropenis Hypospadias Benign genitourinary tract neoplasm Hematological neoplasm Malignant genitourinary tract tumor Benign gastrointestinal tract tumors Salivary gland neoplasm Melanoma Keratoacanthoma Duodenal adenocarcinoma Sebaceous gland carcinoma Neoplasm of the stomach Goiter Myopia Hypopigmented skin patches Visual loss Autistic behavior Hypertrophic cardiomyopathy Osteopenia Kyphoscoliosis Weight loss Glaucoma Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Attention deficit hyperactivity disorder Behavioral abnormality Blindness Cardiomyopathy Respiratory insufficiency Abnormality of the skeletal system Dysarthria Peripheral neuropathy Visual impairment Paralysis Pruritus Ptosis Tetralogy of Fallot Spina bifida Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Specific learning disability Pulmonic stenosis Gastrointestinal hemorrhage Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Malabsorption Anemia Abnormal facial shape Venous thrombosis Orthokeratosis Clubbing Psoriasiform dermatitis Polycystic kidney dysplasia Growth abnormality Abdominal distention Abdominal pain Hyperhidrosis Edema Hypergranulosis Hypermelanotic macule Parakeratosis Squamous cell carcinoma Scaling skin Abnormality of the nail Thickened skin Epidermal acanthosis Abnormality of the skin Hyperkeratosis Intestinal obstruction Iron deficiency anemia Precocious puberty with Sertoli cell tumor Thrombophlebitis Endolymphatic sac tumor Congenital shortened small intestine Thyroid nodule Gastrointestinal carcinoma Clear cell renal cell carcinoma Intussusception Testicular neoplasm Bloody diarrhea Hematemesis Abnormality of the ureter Intestinal bleeding Nasal polyposis Rectal prolapse Biliary tract abnormality Pancreatic cysts Multiple myeloma Clubbing of fingers Abnormality of the mouth Vitiligo Atherosclerosis Sarcoma Increased intracranial pressure Brow ptosis Brachydactyly Motor delay High palate Low-set ears Cataract Ataxia Hearing impairment Generalized hypotonia Tibial pseudoarthrosis Tremor Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Downslanted palpebral fissures Atrial septal defect Neuroma Abnormal cerebellum morphology Drooling Cranial nerve paralysis Lymphopenia Exotropia Chronic diarrhea Intention tremor Decreased antibody level in blood Macroglossia Hypoplasia of the maxilla Kyphosis Polymicrogyria Joint hypermobility Nausea and vomiting Intellectual disability, moderate Proximal muscle weakness Hypothyroidism Narrow mouth Recurrent infections Immunodeficiency Neurofibrosarcoma Vestibular Schwannoma Back pain Overweight Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Gangrene Increased reactive oxygen species production Severe vision loss Anomalous pulmonary venous return Osteomalacia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Precocious puberty Complete atrioventricular canal defect Night sweats Embryonal rhabdomyosarcoma Leiomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Paraganglioma Gastrointestinal stroma tumor Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Abnormality of hair growth rate



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