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.
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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
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
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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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
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
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
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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