Breast carcinoma, and Nephrolithiasis
Diseases related with Breast carcinoma and Nephrolithiasis
In the following list you will find some of the most common rare diseases related to Breast carcinoma and Nephrolithiasis that can help you solving undiagnosed cases.
Medium match HYPERPARATHYROIDISM 4; HRPT4
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).
HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primaryRelated symptoms:
- Renal insufficiency
- Abnormality of the kidney
More info about HYPERPARATHYROIDISM 1; HRPT1
Low match COMPLETE ANDROGEN INSENSITIVITY SYNDROME
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.
COMPLETE ANDROGEN INSENSITIVITY SYNDROME Is also known as cais|complete androgen resistance syndromeRelated symptoms:
- Inguinal hernia
More info about COMPLETE ANDROGEN INSENSITIVITY SYNDROME
Other less relevant matches:
Low match PEUTZ-JEGHERS SYNDROME
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.
PEUTZ-JEGHERS SYNDROME Is also known as hamartomatous intestinal polyposis|polyps and spots syndrome|pjsRelated symptoms:
- Abdominal pain
- Gastrointestinal hemorrhage
More info about PEUTZ-JEGHERS SYNDROME
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1Related symptoms:
- Short stature
- Growth delay
- Failure to thrive
More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS
Low match MCCUNE-ALBRIGHT SYNDROME; MAS
Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).
MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndromeRelated symptoms:
- Hearing impairment
- Abnormal facial shape
- Depressed nasal bridge
More info about MCCUNE-ALBRIGHT SYNDROME; MAS
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 intestinalRelated symptoms:
More info about PEUTZ-JEGHERS SYNDROME; PJS
Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).Related symptoms:
- Breast carcinoma
- Colon cancer
More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
BAP1-RELATED TUMOR PREDISPOSITION SYNDROME Is also known as tumor susceptibility linked to germline bap1 mutationsRelated symptoms:
More info about BAP1-RELATED TUMOR PREDISPOSITION SYNDROME
Low match GAPO SYNDROME
GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophyRelated symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Growth delay
More info about GAPO SYNDROME
Top 5 symptoms//phenotypes associated to Breast carcinoma and Nephrolithiasis
|Symptoms // Phenotype||% cases|
|Neoplasm||Common - Between 50% and 80% cases|
|Carcinoma||Uncommon - Between 30% and 50% cases|
|Nevus||Uncommon - Between 30% and 50% cases|
|Gynecomastia||Uncommon - Between 30% and 50% cases|
|Renal cell carcinoma||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Breast carcinoma and Nephrolithiasis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesNeoplasm of the pancreas Hyperparathyroidism Hypercalcemia
Rare Symptoms - Less than 30% casesAbnormality of the ureter Infertility Primary amenorrhea Anemia Vomiting Abdominal pain Intestinal obstruction Macule Growth delay Short stature Amenorrhea Leukemia Abdominal distention Ovarian neoplasm Nasal polyposis Hypogonadism Depressed nasal bridge Gastrointestinal carcinoma Hearing impairment Rectal prolapse Cafe-au-lait spot Osteopenia Hemangioma Nephrocalcinosis Hypercalciuria Polycystic kidney dysplasia Hypophosphatemia Hamartomatous polyposis Ovarian cyst Hyperhidrosis Intestinal polyposis Abnormality of the kidney Primary hyperparathyroidism Thyroid nodule Parathyroid carcinoma Diarrhea Hypertelorism Intellectual disability Headache Precocious puberty with Sertoli cell tumor Malignant mesothelioma Uveal melanoma Colon cancer Cutaneous melanoma Lung adenocarcinoma Basal cell carcinoma Edema Renal neoplasm Meningioma Congenital shortened small intestine Prostate cancer Papule Melanoma Squamous cell carcinoma Endolymphatic sac tumor Intussusception Uterine neoplasm Biliary tract abnormality Iron deficiency anemia Vitiligo Abnormality of the mouth Hypermelanotic macule Clubbing Clubbing of fingers Multiple myeloma Melanocytic nevus Psoriasiform dermatitis Pancreatic cysts Neoplasm of the breast Clear cell renal cell carcinoma Nystagmus Hematemesis Thrombophlebitis Growth abnormality Accelerated skeletal maturation Bloody diarrhea Dilatation Testicular neoplasm Intestinal polyp Hamartoma Intestinal bleeding Delayed skeletal maturation Micrognathia Underdeveloped supraorbital ridges Atherosclerosis Abnormal palate morphology Abnormality of the outer ear Increased intracranial pressure Hypopigmented skin patches Abnormality of pelvic girdle bone morphology Hyperextensible skin Sparse eyebrow Abnormality of the thorax Keratoconus Prematurely aged appearance Hypoplastic nipples Ectrodactyly Palpebral edema Aminoaciduria Abnormality of the clavicle Skin tags Decreased skull ossification Oligospermia Abnormality of the neck Abnormality of the cerebral vasculature Nasolacrimal duct obstruction Fingernail dysplasia Thick nasal alae Asymmetry of the thorax Dysmenorrhea Tetraamelia Hypoplastic areola Sparse eyelashes Sparse and thin eyebrow Low-set ears High forehead Visual impairment Myopia Optic atrophy Frontal bossing Anteverted nares Abnormality of the dentition Long philtrum Midface retrusion Arrhythmia Monostotic fibrous dysplasia Alopecia Glaucoma Mandibular prognathia Umbilical hernia Abnormality of the metaphysis EEG abnormality Cleft lip Abnormality of the pinna Broad forehead Hypotrichosis Joint hyperflexibility Cleft upper lip Everted lower lip vermilion Delayed eruption of teeth Ectodermal dysplasia Small nail Choanal atresia Abnormal form of the vertebral bodies Hypertension Hyperthyroidism Large cafe-au-lait macules with irregular margins Gastrointestinal infarctions Testicular gonadoblastoma Aplasia/Hypoplasia of the fallopian tube Gastrointestinal hemorrhage Neoplasm of the lung Multiple renal cysts Abnormality of the respiratory system Abnormality of the gastrointestinal tract Abnormality of the nose Stomach cancer Enlarged polycystic ovaries Multiple lentigines Arteriovenous fistula Absent axillary hair Pancreatic adenocarcinoma Abnormality of the gallbladder Neoplasm of the small intestine Neoplasm of the rectum Neoplasm of the colon Esophageal neoplasm Biliary tract neoplasm Melanonychia Abnormal pigmentation of the oral mucosa Cervix cancer Neoplasm of the nose Microcephaly Absent pubic hair Aplasia of the uterus Intrauterine growth retardation Retinoblastoma Renal insufficiency Recurrent fractures Ventricular hypertrophy Left ventricular hypertrophy Neoplasm of the endocrine system Hyperphosphaturia Elevated circulating parathyroid hormone level Generalized osteoporosis Parathyroid adenoma Peptic ulcer Carcinoid tumor Parathyroid hyperplasia Male pseudohermaphroditism Aortic valve calcification Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Cryptorchidism Tremor Inguinal hernia Osteoporosis Sensory neuropathy Muscle cramps Failure to thrive Hydrocephalus Precocious puberty in females Osteomalacia Goiter Elevated alkaline phosphatase Precocious puberty Rickets Acne Hyperostosis Adrenal insufficiency Neurofibromas Pathologic fracture Abnormality of the thyroid gland Freckling Growth hormone excess Aspiration Syringomyelia Increased circulating cortisol level Prolactin excess Pituitary adenoma Osteosarcoma Pituitary hypothyroidism Craniofacial hyperostosis Pseudohypoparathyroidism Multinodular goiter Myelofibrosis Axillary freckling Polyostotic fibrous dysplasia Neoplasm of the skin Decreased liver function Microphthalmia Chromosome breakage Corneal opacity Anal atresia Esotropia Renal hypoplasia Short thumb Bone marrow hypocellularity Horseshoe kidney Myelodysplasia Acute myeloid leukemia Anteriorly placed anus Lipoma Acute leukemia Peters anomaly Tall stature Medulloblastoma Chromosomal breakage induced by crosslinking agents T-cell acute lymphoblastic leukemias Abnormal facial shape Blindness Congestive heart failure Hyperactivity Hypothyroidism Autoimmunity Synophrys Facial asymmetry Hirsutism Early balding
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