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.


Top matches:

Medium match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about 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). 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

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 syndrome

Related symptoms:

  • Cryptorchidism
  • Tremor
  • Inguinal hernia
  • Osteoporosis
  • Infertility


SOURCES: ORPHANET MENDELIAN

More info about COMPLETE ANDROGEN INSENSITIVITY SYNDROME

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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|pjs

Related symptoms:

  • Neoplasm
  • Anemia
  • Vomiting
  • Abdominal pain
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


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 fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

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 syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

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 intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

Low match SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS


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:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Breast carcinoma
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS

Low match BAP1-RELATED TUMOR PREDISPOSITION SYNDROME


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 mutations

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Papule
  • Nevus
  • Melanoma


SOURCES: ORPHANET OMIM MENDELIAN

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 atrophy

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

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
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm of the pancreas Hyperparathyroidism Hypercalcemia

Rare Symptoms - Less than 30% cases


Abnormality 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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