Breast carcinoma, and Nephrotic syndrome

Diseases related with Breast carcinoma and Nephrotic syndrome

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


Top matches:

Low match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Low 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 46,XY PARTIAL GONADAL DYSGENESIS


46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis|46,xy pgd

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


SOURCES: ORPHANET MENDELIAN

More info about 46,XY PARTIAL GONADAL DYSGENESIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

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 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

Low match PMM2-CDG


PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Nephrotic syndrome

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Lipodystrophy Atherosclerosis Insulin resistance Peripheral neuropathy Hypertension Sparse scalp hair Hypergonadotropic hypogonadism Short stature Renal neoplasm Cataract

Rare Symptoms - Less than 30% cases


Hypoalbuminemia Hyperkeratosis Diabetes mellitus Hypogonadism Rod-cone dystrophy Behavioral abnormality Abnormality of the dentition Skeletal muscle atrophy Visual impairment Focal segmental glomerulosclerosis Glomerulosclerosis Round face Back pain Joint stiffness Nail dystrophy Proteinuria Macrotia Narrow mouth Prominent forehead Respiratory distress Muscular hypotonia Hypertelorism Microcephaly Clitoral hypertrophy Proptosis Retinal degeneration Gynecomastia Narrow nasal ridge Abnormality of the cardiovascular system Abnormality of skin pigmentation Paralysis Hypertrophic cardiomyopathy Kyphoscoliosis Cardiomyopathy Abnormality of the skeletal system Seizures Intellectual disability Soft tissue sarcoma Generalized hypotonia Convex nasal ridge Growth delay Meningioma Progeroid facial appearance Muscle weakness Premature loss of teeth Flexion contracture Prematurely aged appearance High pitched voice Dermal atrophy Sarcoma Pruritus Nephroblastoma Alopecia Hyperparathyroidism Renal insufficiency Micropenis Delayed puberty Neoplasm of the endocrine system Abnormality of the kidney Primary hyperparathyroidism Parathyroid adenoma Hypospadias Abnormality of cardiovascular system morphology Recurrent fractures Hypophosphatemia Nephrolithiasis Carcinoid tumor Gastrointestinal stroma tumor Hypercalcemia Renal cell carcinoma Parathyroid carcinoma Leiomyosarcoma Decreased testicular size Loss of subcutaneous adipose tissue in limbs Neurofibrosarcoma Mottled pigmentation Optic nerve glioma Subcutaneous neurofibromas Tibial pseudoarthrosis Acute promyelocytic leukemia Cerebral artery stenosis Hematemesis Inguinal freckling Global developmental delay Spinal neurofibromas Arterial fibromuscular dysplasia Brow ptosis Plexiform neurofibroma Progressive clavicular acroosteolysis Ataxia Diarrhea Abnormality of the nervous system Elevated hepatic transaminase Thin upper lip vermilion Hypothyroidism Generalized lipodystrophy Cerebellar hypoplasia Hyporeflexia Encephalopathy Kyphosis Cerebellar atrophy Vestibular Schwannoma Vomiting Hepatomegaly Depressed nasal bridge Feeding difficulties Wide cranial sutures Breast aplasia Strabismus Failure to thrive Nystagmus Neuroma Single ventricle Embryonal rhabdomyosarcoma Multiple cafe-au-lait spots Astrocytoma Brain neoplasm Myocardial fibrosis Thin clavicles Gangrene Foot pain Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Freckling Pheochromocytoma Tibial bowing Neurofibromas Acroosteolysis of distal phalanges (feet) Pulmonary fibrosis Sensory axonal neuropathy Precocious puberty Incoordination Reduced bone mineral density Venous thrombosis Spina bifida Aqueductal stenosis Complete atrioventricular canal defect Axillary freckling Neoplasm of the central nervous system Renovascular hypertension Renal artery stenosis Abnormality of the eye Pseudoarthrosis Bird-like facies Limb-girdle muscle atrophy Epigastric pain Dural ectasia Fibular bowing Osteolytic defects of the distal phalanges of the hand Lisch nodules Anomalous pulmonary venous return Chronic myelogenous leukemia Renal phosphate wasting Aplasia/Hypoplasia of the clavicles Schwannoma Glioma Increased adipose tissue around the neck Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Night sweats Muscular hypotonia of the trunk Colon cancer Feeding difficulties in infancy Delayed cranial suture closure Proximal muscle weakness Rigidity Retrognathia Short nose Increased facial adipose tissue Myopathy Glucose intolerance Edema High palate Hypermelanotic macule Sparse hair Micrognathia Hearing impairment Reduced subcutaneous adipose tissue Hyperplastic labia majora Abnormal subcutaneous fat tissue distribution Olivopontocerebellar hypoplasia Reduced factor XI activity Spinal rigidity Reduced antithrombin III activity Postnatal growth retardation Scarring Abnormality of the amniotic fluid Hyperpigmentation of the skin Hyperglycemia Hyperostosis Congenital muscular dystrophy Hyperinsulinemia Hyperlipidemia Acanthosis nigricans Osteolysis Wormian bones Increased body weight Dental crowding Muscular dystrophy Large fontanelles Thin skin Hypertriglyceridemia Epidermal acanthosis Abnormality of the skin Dental malocclusion Full cheeks Sepsis Short distal phalanx of finger Hypotrichosis Congenital nephrotic syndrome Pontocerebellar atrophy Neoplasm of the pancreas Epileptic encephalopathy Atrophy/Degeneration affecting the brainstem IgA deficiency Pericardial effusion Premature ovarian insufficiency Truncal ataxia Hepatic fibrosis Amblyopia Pigmentary retinopathy Peripheral demyelination Esotropia Thrombocytosis Renal cyst Polyneuropathy Hepatic steatosis Cirrhosis Abnormality of eye movement Absent eyebrow Severe global developmental delay Abnormality of the liver Hypoplasia of teeth Broad distal phalanx of finger Inverted nipples Prominent superficial veins Arthropathy Stroke-like episode Short clavicles Micronodular cirrhosis Insulin-resistant diabetes mellitus Diffuse mesangial sclerosis Type I transferrin isoform profile Hypocholesterolemia Proximal tubulopathy Prolonged prothrombin time Olivopontocerebellar atrophy Prolonged partial thromboplastin time Calcinosis Nonimmune hydrops fetalis Bone pain Narrow nose Foamy urine Stiff elbow Down-sloping shoulders IgG deficiency Osteolytic defects of the phalanges of the hand Abnormality of the fingertips Vertebral compression fractures Sensorimotor neuropathy Cognitive impairment Cafe-au-lait spot Female external genitalia in individual with 46,XY karyotype Pneumonia Fever Abnormality of the labia Vanishing testis Testicular gonadoblastoma Ovarian gonadoblastoma Abnormal internal genitalia Abnormal sex determination Abnormality of the scrotum Hypoplasia of the vagina Respiratory tract infection Streak ovary Decreased testosterone in males Primary gonadal insufficiency Decreased fertility in females Urogenital sinus anomaly Elevated circulating luteinizing hormone level Abnormal vagina morphology Decreased serum estradiol Absence of secondary sex characteristics Recurrent respiratory infections Erythema Elevated circulating follicle stimulating hormone level Tubular atrophy Small hand Nephropathy Retinopathy Congestive heart failure Junctional split Respiratory acidosis Crossed fused renal ectopia Decreased glomerular filtration rate Onycholysis Fragile skin Narrow chest Interstitial pulmonary abnormality Ectopic kidney Neonatal respiratory distress Sparse eyelashes Recurrent pneumonia Sparse and thin eyebrow Abnormal lung morphology Fine hair Cyanosis Abnormal blistering of the skin Gonadoblastoma Sparse pubic hair Coma Barrett esophagus Left ventricular hypertrophy Ventricular hypertrophy Cutaneous leiomyosarcoma Decreased fumarate hydratase activity Papillary renal cell carcinoma type 2 Multiple cutaneous leiomyomas Cutaneous leiomyoma Uterine leiomyosarcoma Vaginal neoplasm Uterine leiomyoma Hypercalciuria Papillary renal cell carcinoma Bladder neoplasm Low back pain Abnormality of the musculature Basal cell carcinoma Neoplasm of the skin Hematuria Papule Skin rash Nephrocalcinosis Polycystic kidney dysplasia Sparse axillary hair Cryptorchidism Increased circulating gonadotropin level Gonadal dysgenesis Male infertility Adrenal insufficiency Azoospermia Primary amenorrhea Hypoplasia of penis Ambiguous genitalia Delayed skeletal maturation Polyarticular chondrocalcinosis Hyperphosphaturia Elevated alkaline phosphatase of bone origin Calcium nephrolithiasis Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Parathyroid hyperplasia Retinoblastoma Peptic ulcer Generalized osteoporosis Elevated circulating parathyroid hormone level Hypopigmentation of the skin Chest pain Aganglionic megacolon Ptosis Headache Intellectual disability, mild Blindness Hydrocephalus Respiratory insufficiency Macrocephaly Dysarthria Delayed speech and language development Anemia Abnormal facial shape Depressivity Scoliosis Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Dilatation Visual loss Chorioretinitis Paresthesia Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Peripheral axonal neuropathy Facial asymmetry Abnormal heart morphology Genu valgum Malabsorption Pulmonic stenosis Attention deficit hyperactivity disorder Autistic behavior Hypoglycemia Autism Weight loss Glaucoma Hyperactivity Abnormal hair whorl Cutaneous melanoma Type II diabetes mellitus Melanoma Premature graying of hair Squamous cell carcinoma Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Myelodysplasia Abnormality of the voice Laryngomalacia Macular degeneration Decreased fertility Type I diabetes mellitus Spontaneous abortion Hoarse voice Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Decreased body weight Myocardial infarction Polyphagia Lipoatrophy Arteriosclerosis Abnormality of the cerebral vasculature Enlarged joints Thyroid carcinoma White forelock Slender build Abnormality of the testis Pili torti Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Osteosarcoma Aplasia/Hypoplasia of the skin Posterior subcapsular cataract Pulmonary artery stenosis Neoplasm of the lung Alopecia of scalp Subcapsular cataract Ovarian neoplasm Secondary amenorrhea Myeloid leukemia Scleroderma Telangiectasia of the skin Prostate cancer



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Renal cyst, related diseases and genetic alterations Dysarthria and Bulbous nose, related diseases and genetic alterations Brachydactyly and Neurodegeneration, related diseases and genetic alterations Depressed nasal bridge and Flat face, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more