Breast carcinoma, and Myocardial infarction

Diseases related with Breast carcinoma and Myocardial infarction

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


Top matches:

High 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 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


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).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

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Other less relevant matches:

Low match APOCRINE GLAND SECRETION, VARIATION IN


APOCRINE GLAND SECRETION, VARIATION IN Is also known as cerumen, variation in|wet wax|ww|colostrum secretion, variation in|ear wax, wet/dry|axillary odor, variation in|ewwd

Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Abnormality of the ear


SOURCES: OMIM MENDELIAN

More info about APOCRINE GLAND SECRETION, VARIATION IN

Low match BRUGADA SYNDROME 4; BRGDA4


Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).For a discussion of the genetic heterogeneity in Brugada syndrome, see BRGDA1 (OMIM ).

Related symptoms:

  • Tachycardia
  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation
  • Myocardial infarction


SOURCES: OMIM MESH MENDELIAN

More info about BRUGADA SYNDROME 4; BRGDA4

Low match OOCYTE MATURATION DEFECT 2; OOMD2


Related symptoms:

  • Infertility
  • Myocardial infarction
  • Female infertility
  • Oocyte arrest at metaphase I


SOURCES: OMIM MENDELIAN

More info about OOCYTE MATURATION DEFECT 2; OOMD2

Low match PAGET DISEASE OF BONE 6; PDB6


Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Low match PRIMARY FAMILIAL POLYCYTHEMIA


Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

PRIMARY FAMILIAL POLYCYTHEMIA Is also known as polycythemia, primary familial and congenital|primary familial and congenital polycythemia|familial erythrocytosis|erythrocytosis, autosomal dominant benign|pfcp|congenital polycythemia due to erythropoietin receptor mutation|congenital erythrocytosis due

Related symptoms:

  • Pain
  • Hypertension
  • Fatigue
  • Respiratory distress
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY FAMILIAL POLYCYTHEMIA

Low match THROMBOCYTHEMIA 3; THCYT3


Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012).For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (OMIM ).

THROMBOCYTHEMIA 3; THCYT3 Is also known as thrombocytosis 3

Related symptoms:

  • Splenomegaly
  • Myocardial infarction
  • Thrombocytosis


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTHEMIA 3; THCYT3

Top 5 symptoms//phenotypes associated to Breast carcinoma and Myocardial infarction

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Short stature 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 Myocardial infarction. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Rare Symptoms - Less than 30% cases


Congestive heart failure Ovarian neoplasm Hypergonadotropic hypogonadism Atherosclerosis Cataract Dermal atrophy Intellectual disability Abnormality of the dentition High pitched voice Premature graying of hair Lipoatrophy Thromboembolism Scleroderma Exertional dyspnea Splenomegaly Alopecia of scalp Hypogonadotrophic hypogonadism Thrombocytosis Lack of skin elasticity Infertility Delayed puberty Enlarged joints Arteriosclerosis Narrow nasal ridge Osteopenia Sensorineural hearing impairment Increased bone mineral density Abnormality of the thorax Insulin resistance Convex nasal ridge Alopecia Osteoporosis Skeletal muscle atrophy Micropenis Proptosis Carcinoma Joint stiffness Stroke Osteoarthritis Dyspnea Chest pain Leukemia Lipodystrophy Decreased body weight Left ventricular hypertrophy Nail dysplasia Abnormal EKG Absent eyelashes Transient ischemic attack Fragile nails Aortic valve stenosis Down-sloping shoulders Cyanosis Hyperphosphatemia Ovoid vertebral bodies Limitation of joint mobility Thin bony cortex Short clavicles Sparse and thin eyebrow Growth hormone deficiency Prominent superficial veins Angina pectoris Dental crowding Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Osteolytic defects of the phalanges of the hand Hyperlipidemia Thin skin Metaphyseal widening Osteolysis Acanthosis nigricans Hypercholesterolemia Relative macrocephaly Broad-based gait Nasal speech Intracranial hemorrhage Hyperinsulinemia Aminoaciduria Hypodontia Premature ovarian insufficiency Hypertriglyceridemia Hypoplastic nipples Cardiomegaly Heart murmur Abnormality of the cardiovascular system Multiple joint contractures Prolonged QT interval Hypohidrosis Delayed eruption of teeth Thin ribs Keratoconjunctivitis sicca Coxa valga Aspiration Renal cell carcinoma Prominent scalp veins Decreased serum estradiol Abdominal pain Shortened QT interval Polymorphic ventricular tachycardia Aborted sudden cardiac death Female infertility Oocyte arrest at metaphase I Recurrent fractures Nephrolithiasis Bone pain Nephrocalcinosis Elevated alkaline phosphatase Coronary artery atherosclerosis Fatigue Respiratory distress Headache Arthralgia Ventricular tachycardia Myalgia Cough Pruritus Vertigo Abnormal bleeding Epistaxis Venous thrombosis Cerebral hemorrhage Polycythemia Abnormal hemoglobin Increased hemoglobin Increased hematocrit Plethora Increased red blood cell mass ST segment elevation Atrial fibrillation Prolonged prothrombin time Hypoplastic facial bones Carcinoid tumor Aplastic clavicle Hip pain Absence of subcutaneous fat Thin nail Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Corneal arcus Intermittent claudication Widely patent fontanelles and sutures Parietal bossing Mitral valve calcification Bird-like facies Reticulated skin pigmentation Syncope Old-aged sensorineural hearing impairment Craniofacial disproportion Bilateral coxa valga Narrow nasal tip Carotid artery stenosis Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Abnormality of the ear Tachycardia Sudden cardiac death Hepatic steatosis Macrocephaly Thin vermilion border Progeroid facial appearance Polyphagia Decreased fertility Aplasia/Hypoplasia of the skin Telangiectasia of the skin Myeloid leukemia Secondary amenorrhea Prematurely aged appearance Subcapsular cataract Premature loss of teeth Neoplasm of the lung Pulmonary artery stenosis Posterior subcapsular cataract Meningioma Polyuria Renal neoplasm Osteosarcoma Abnormality of the cerebral vasculature Peripheral arterial stenosis Chondrocalcinosis Pili torti Abnormality of the testis Slender build White forelock Thyroid carcinoma Cutaneous melanoma Chorioretinitis Soft tissue sarcoma Squamous cell carcinoma Rocker bottom foot Poliosis Type II diabetes mellitus Visual impairment Peripheral neuropathy Behavioral abnormality Rod-cone dystrophy Diabetes mellitus Hyperkeratosis Retinopathy Retinal degeneration Nephropathy Small hand Hypopigmentation of the skin Coma Decreased testicular size Sparse scalp hair Polydipsia Abnormality of retinal pigmentation Skin ulcer Abnormality of the hair Narrow face Hoarse voice Spontaneous abortion Type I diabetes mellitus Macular degeneration Melanoma Laryngomalacia Sarcoma Abnormality of the voice Myelodysplasia Abnormal hair whorl Subcutaneous calcification Narrow chest Malar flattening Prostate cancer Microphallus Bimanual synkinesia Scoliosis Growth delay Failure to thrive Micrognathia Abnormal facial shape Flexion contracture Abnormality of the skeletal system Cardiomyopathy Kyphosis Short nose Midface retrusion Hyposmia Dementia Prominent forehead Narrow mouth Macrotia Conductive hearing impairment Hypertrophic cardiomyopathy Sparse hair Microtia Hip dislocation Dilated cardiomyopathy Hypermetropia Hypotrichosis Carious teeth Gonadotropin deficiency Ectrodactyly Neoplasm of the small intestine Cleft upper lip Gastrointestinal carcinoma Premature arteriosclerosis Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Cleft palate Cryptorchidism Abnormality of cardiovascular system morphology Clinodactyly Agenesis of corpus callosum Abnormality of the nervous system Cleft lip Coloboma Oral cleft Hypopituitarism Iris coloboma Vesicoureteral reflux Renal agenesis Amenorrhea Hypotelorism Coarctation of aorta Primary amenorrhea Choanal atresia Gynecomastia Holoprosencephaly Anosmia Reduced number of teeth Unilateral renal agenesis Peripheral thrombosis



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