Breast carcinoma, and Osteoporosis

Diseases related with Breast carcinoma and Osteoporosis

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


Top matches:

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

Medium 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

Medium 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:

Medium match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

Medium match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match MCCUNE-ALBRIGHT SYNDROME


McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

MCCUNE-ALBRIGHT SYNDROME Is also known as gonadotropin-independent female-limited sexual precocity

Related symptoms:

  • Optic atrophy
  • Macrocephaly
  • Abnormality of the dentition
  • Kyphosis
  • Mandibular prognathia


SOURCES: ORPHANET MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME

Low match HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Clinodactyly
  • Osteoporosis


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9

Low match PARTIAL ANDROGEN INSENSITIVITY SYNDROME


Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS; see this term) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.

PARTIAL ANDROGEN INSENSITIVITY SYNDROME Is also known as familial incomplete male pseudohermaphroditism, type 1|androgen insensitivity, partial, with or without breast cancer|reifenstein syndrome|partial androgen resistance syndrome|pais

Related symptoms:

  • Cryptorchidism
  • Hypospadias
  • Osteoporosis
  • Hypogonadism
  • Micropenis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL ANDROGEN INSENSITIVITY SYNDROME

Low match 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY


46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

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

Symptoms // Phenotype % cases
Reduced bone mineral density Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Decreased testicular size Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Recurrent fractures Hypertension Neoplasm of the breast Gynecomastia Congestive heart failure Sarcoma Macrocephaly Decreased fertility Neoplasm of the thyroid gland Hyperparathyroidism Hypophosphatemia Osteopenia Meningioma Ovarian neoplasm Carcinoma

Rare Symptoms - Less than 30% cases


Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Secondary amenorrhea Lipoatrophy Abnormality of the voice Premature graying of hair Rocker bottom foot Abnormality of the thorax Cryptorchidism Laryngomalacia Hypospadias Atherosclerosis Hypergonadotropic hypogonadism Increased bone mineral density Narrow face Prematurely aged appearance Precocious puberty Neoplasm of the lung Soft tissue sarcoma Clitoral hypertrophy Failure to thrive Bone pain Mitral valve prolapse Sparse body hair Neoplasm of the oral cavity Premature arteriosclerosis Neoplasm of the small intestine Subcutaneous calcification Abnormal hair whorl Polycystic ovaries Progeroid facial appearance White forelock Abnormality of the testis Pili torti Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Skin ulcer Osteosarcoma Renal neoplasm Delayed puberty Abnormality of the hair Abnormality of the cerebral vasculature Male pseudohermaphroditism Nephrolithiasis Alopecia Behavioral abnormality Abnormality of the dentition Skeletal muscle atrophy Peripheral neuropathy Visual impairment Parathyroid carcinoma Hyperkeratosis Aortic valve calcification Hypercalcemia Carcinoid tumor Parathyroid adenoma Primary hyperparathyroidism Neoplasm of the endocrine system Abnormality of retinal pigmentation Diabetes mellitus Pain Leukemia Decreased body weight Convex nasal ridge Type II diabetes mellitus Retinal degeneration Calf muscle hypertrophy Hyperglycemia Dural ectasia Epigastric pain Premature ovarian insufficiency Hyperinsulinemia Aplasia/Hypoplasia of the eyebrow Neoplasm of the skin Finger clinodactyly Aortic valve stenosis Pseudoarthrosis Thin skin Coronary artery atherosclerosis Leiomyosarcoma Glycosuria Single ventricle Insulin-resistant diabetes mellitus Fragile nails Osteolytic defects of the phalanges of the hand Prominent superficial veins Exercise-induced myalgia Abnormality of the pulmonary artery Abnormal hair quantity Generalized lipodystrophy Primary gonadal insufficiency Fasting hyperinsulinemia Abnormality of the Achilles tendon Decreased fertility in females Intervertebral disc degeneration Hypertriglyceridemia Limitation of joint mobility Hip dysplasia Micrognathia Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Optic nerve glioma Tibial pseudoarthrosis Abnormality of creatine metabolism Brow ptosis Neurofibrosarcoma Neuroma Vestibular Schwannoma Abnormal sex determination Pes planus Subcutaneous neurofibromas Embryonal rhabdomyosarcoma Hypotrichosis Female external genitalia in individual with 46,XY karyotype Axillary freckling Renovascular hypertension Patchy hypo- and hyperpigmentation Congenital cataract Decreased fertility in males Hypoplasia of the vagina Renal artery stenosis Thin vermilion border Short palm Hepatic steatosis Dysmenorrhea Progressive clavicular acroosteolysis Enlarged polycystic ovaries Sclerosis of hand bone Cleft palate Sparse axillary hair Gastrointestinal stroma tumor Hypoplasia of the uterus Generalized hyperpigmentation Increased circulating cortisol level Hearing abnormality Macroorchidism Long penis Testicular neoplasm Hearing impairment Primary amenorrhea Delayed skeletal maturation Sensorineural hearing impairment Incomplete male pseudohermaphroditism Clinodactyly Elevated circulating follicle stimulating hormone level Aplasia of the uterus Oligospermia Abnormality of the rib cage Male infertility Bifid scrotum Azoospermia Infertility Microphallus Cleft lip Perineal hypospadias Female pseudohermaphroditism Anosmia Absent vas deferens Hypogonadotrophic hypogonadism Gonadal neoplasm Sparse pubic hair Decreased serum testosterone level Abnormality of circulating leptin level Mandibular prognathia Papule Talipes Subcutaneous nodule Hemiplegia/hemiparesis Hamartoma Arteriovenous malformation Lower limb asymmetry Venous insufficiency Visceral angiomatosis Excessive wrinkled skin Lymphangioma Upper limb asymmetry Optic atrophy Kyphosis Skeletal dysplasia Hyperthyroidism Decreased serum estradiol Absence of secondary sex characteristics Prolonged bleeding time Open bite Goiter Abnormality of vision Abnormal palate morphology Elevated circulating luteinizing hormone level Elevated hepatic transaminase Abnormality of dental enamel Ambiguous genitalia, male Tall stature Abnormality of the face Carious teeth Abnormality of the eye Fibular bowing Hypsarrhythmia Neoplasm of the central nervous system Myeloid leukemia Slender build Posterior subcapsular cataract Pulmonary artery stenosis Alopecia of scalp Premature loss of teeth Subcapsular cataract Scleroderma Enlarged joints Polyphagia High pitched voice Squamous cell carcinoma Polyuria Polydipsia Myelodysplasia Thyroid carcinoma Arteriosclerosis Dermal atrophy Seizures Anemia Cognitive impairment Ptosis Abnormal facial shape Hypertelorism Scoliosis Intellectual disability Narrow nasal ridge Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Gastrointestinal carcinoma Poliosis Chorioretinitis Cutaneous melanoma Lipodystrophy Melanoma Dysarthria Elevated circulating parathyroid hormone level Abnormality of the parathyroid gland Mitral valve calcification Parathyroid hyperplasia Retinoblastoma Peptic ulcer Generalized osteoporosis Hyperphosphaturia Elevated alkaline phosphatase of bone origin Polycystic kidney dysplasia Hypercalciuria Nephrocalcinosis Left ventricular hypertrophy Ventricular hypertrophy Abnormality of the kidney Calcium nephrolithiasis Polyarticular chondrocalcinosis Macular degeneration Chest pain Type I diabetes mellitus Spontaneous abortion Hoarse voice Insulin resistance Sparse scalp hair Myocardial infarction Coma Cataract Hypopigmentation of the skin Small hand Nephropathy Retinopathy Joint stiffness Proptosis Rod-cone dystrophy Delayed speech and language development Abnormality of the skeletal system Lisch nodules Pulmonary fibrosis Severe vision loss Renal cell carcinoma Osteomalacia Freckling Tibial bowing Neurofibromas Sensory axonal neuropathy Increased reactive oxygen species production Back pain Incoordination Venous thrombosis Spina bifida Sensorimotor neuropathy Cafe-au-lait spot Overweight Gangrene Renal insufficiency Paraganglioma Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Night sweats Myocardial fibrosis Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Aqueductal stenosis Astrocytoma Brain neoplasm Aganglionic megacolon Coarctation of aorta Respiratory insufficiency Depressivity Autism Weight loss Glaucoma Hyperactivity Abnormal heart morphology Visual loss Abnormality of cardiovascular system morphology Hypoglycemia Dilatation Headache Intellectual disability, mild Blindness Cardiomyopathy Hydrocephalus Kyphoscoliosis Hypertrophic cardiomyopathy Abnormality of the cardiovascular system Peripheral axonal neuropathy Tetralogy of Fallot Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Abnormality of skin pigmentation Paresthesia Autistic behavior Facial asymmetry Genu valgum Malabsorption Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Paralysis Decreased circulating androgen level



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thin upper lip vermilion, related diseases and genetic alterations Downslanted palpebral fissures and Cough, related diseases and genetic alterations Delayed speech and language development and Renal agenesis, related diseases and genetic alterations Cryptorchidism and Postaxial polydactyly, related diseases and genetic alterations

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