Breast carcinoma, and Osteopenia

Diseases related with Breast carcinoma and Osteopenia

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


Top matches:

High match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

High 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

High 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 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13


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
  • Delayed skeletal maturation
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13

Medium match HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8


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 as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8

Medium match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Medium match PANHYPOPITUITARISM


Insufficient production of all the anterior pituitary hormones.

PANHYPOPITUITARISM Is also known as pituitary dwarfism iv, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Fatigue
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANHYPOPITUITARISM

Medium match ESTROGEN RESISTANCE SYNDROME


Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.

ESTROGEN RESISTANCE SYNDROME Is also known as estrogen insensitivity

Related symptoms:

  • Pain
  • Delayed skeletal maturation
  • Osteoporosis
  • Abdominal pain
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ESTROGEN RESISTANCE SYNDROME

Medium match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Medium match FAMILIAL HYPERPROLACTINEMIA


Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.

FAMILIAL HYPERPROLACTINEMIA Is also known as familial isolated prolactin receptor deficiency

Related symptoms:

  • Osteoporosis
  • Hypogonadism
  • Osteopenia
  • Infertility
  • Amenorrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERPROLACTINEMIA

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

Symptoms // Phenotype % cases
Delayed skeletal maturation Common - Between 50% and 80% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases
Amenorrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the uterus Absence of secondary sex characteristics Delayed puberty Decreased testicular size Infertility Breast aplasia Hypogonadism Cleft palate Short stature Hearing impairment Neoplasm

Rare Symptoms - Less than 30% cases


Hypophosphatemia Gonadotropin deficiency Micropenis Parathyroid carcinoma Neoplasm of the endocrine system Primary hyperparathyroidism Hyperparathyroidism Hypercalcemia Pulmonary fibrosis Gynecomastia Azoospermia Reduced bone mineral density Depressivity Absence of pubertal development Nephrolithiasis Atherosclerosis Hypoglycemia Carcinoma Secondary amenorrhea Increased circulating gonadotropin level Hypopituitarism Overgrowth Aplasia/Hypoplasia of the breasts Cryptorchidism Breast hypoplasia Abnormality of secondary sexual hair Hypertelorism Carcinoid tumor Parathyroid adenoma Sensorineural hearing impairment Female hypogonadism Intellectual disability Pain Recurrent fractures Osteoporosis of vertebrae Anosmia Aplasia/hypoplasia of the uterus Subcutaneous neurofibromas Premature ovarian insufficiency Streak ovary Decreased serum estradiol Sparse pubic hair Acute promyelocytic leukemia Gonadal dysgenesis Optic nerve glioma Decreased fertility Plexiform neurofibroma Axillary freckling Ambiguous genitalia Arachnodactyly Inguinal freckling Spinal neurofibromas Renovascular hypertension Cerebral artery stenosis Abnormality of metabolism/homeostasis Tibial pseudoarthrosis Ataxia Microcephaly Brow ptosis Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Arterial fibromuscular dysplasia Anterior pituitary hypoplasia Growth delay Generalized joint laxity Elevated tissue non-specific alkaline phosphatase Abnormality of the pubic hair Depressed nasal bridge Abnormality of the dentition Anxiety Camptodactyly Wide intermamillary distance Abnormality of the voice Congenital sensorineural hearing impairment Impotence Sparse body hair Male hypogonadism Abnormality of circulating hormone level Decreased serum testosterone level Decreased testosterone in males Eunuchoid habitus Hypoplasia of the ovary Non-obstructive azoospermia Abnormality of body height Increased female libido Menorrhagia Oligomenorrhea Prolactin excess Galactorrhea Abnormal serum testosterone level Marked delay in bone age Fatigue Abnormal prolactin level Constipation Growth hormone deficiency Hypotension Depressed nasal ridge Neonatal hypoglycemia Pituitary hypothyroidism Panhypopituitarism Single ventricle Ectopic posterior pituitary Decreased circulating ACTH level Pituitary dwarfism Ectopic anterior pituitary gland Abnormality of the adrenal glands Abdominal pain Epidermal acanthosis Tall stature Acanthosis nigricans Hyperinsulinemia Acne Glucose intolerance Coronary artery atherosclerosis Abnormality of the vasculature Episodic abdominal pain Delayed epiphyseal ossification Enlarged polycystic ovaries Renal artery stenosis Glioma Pseudoarthrosis Abnormality of cardiovascular system morphology Dysarthria Macrocephaly Abnormality of the skeletal system Respiratory insufficiency Hydrocephalus Cardiomyopathy Blindness Behavioral abnormality Intellectual disability, mild Headache Dilatation Visual loss Hypertension Abnormal heart morphology Hyperactivity Glaucoma Weight loss Autism Kyphoscoliosis Hypertrophic cardiomyopathy Autistic behavior Paralysis Attention deficit hyperactivity disorder Leukemia Pruritus Peripheral neuropathy Visual impairment Malabsorption Retinoblastoma Renal insufficiency Abnormality of the kidney Ventricular hypertrophy Left ventricular hypertrophy Nephrocalcinosis Hypercalciuria Polycystic kidney dysplasia Hyperphosphaturia Elevated circulating parathyroid hormone level Generalized osteoporosis Peptic ulcer Parathyroid hyperplasia Delayed speech and language development Aortic valve calcification Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Seizures Scoliosis Abnormal facial shape Ptosis Cognitive impairment Anemia Pulmonic stenosis Genu valgum Soft tissue sarcoma Night sweats Overweight Increased reactive oxygen species production Gangrene Meningioma Myocardial fibrosis Brain neoplasm Astrocytoma Aqueductal stenosis Pheochromocytoma Complete atrioventricular canal defect Anomalous pulmonary venous return Paraganglioma Renal cell carcinoma Rhabdomyosarcoma Nasolacrimal duct obstruction Schwannoma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Severe vision loss Osteomalacia Facial asymmetry Cafe-au-lait spot Paresthesia Peripheral axonal neuropathy Abnormality of skin pigmentation Lymphoma Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Abnormality of the cardiovascular system Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Aganglionic megacolon Bone pain Multiple cafe-au-lait spots Sensorimotor neuropathy Spina bifida Venous thrombosis Incoordination Sarcoma Back pain Precocious puberty Clitoral hypertrophy Sensory axonal neuropathy Neurofibromas Tibial bowing Freckling Hemorrhagic ovarian cyst



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