Breast carcinoma, and Mitral valve prolapse

Diseases related with Breast carcinoma and Mitral valve prolapse

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


Top matches:

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

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

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

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Other less relevant matches:

Medium match GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Low match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Mitral valve prolapse

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abnormal heart morphology Micrognathia Brachydactyly Global developmental delay Ptosis Abnormal facial shape Neoplasm Scoliosis Coarctation of aorta Hypogonadism Pes planus Delayed puberty Decreased body weight Failure to thrive Ventriculomegaly Feeding difficulties Epicanthus Wide nasal bridge Talipes equinovarus Hypertrophic cardiomyopathy Patent ductus arteriosus Coarse facial features Smooth philtrum High palate Clinodactyly Full cheeks Wide intermamillary distance Ventricular septal defect Recurrent fractures Proptosis Abnormality of cardiovascular system morphology Osteopenia Osteoporosis Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Gastroesophageal reflux Carcinoid tumor Sensorineural hearing impairment Glaucoma Deeply set eye Hypertriglyceridemia Sparse hair Ovarian neoplasm Delayed skeletal maturation Parathyroid adenoma Hepatosplenomegaly Low-set, posteriorly rotated ears Poor speech Atrial septal defect Neoplasm of the endocrine system Meningioma Hirsutism Pectus carinatum Congestive heart failure Brachycephaly Short neck Aortic valve stenosis Abnormality of the thorax Neurofibrosarcoma Flat occiput Hearing impairment Respiratory insufficiency Intellectual disability, mild Hyperplasia of the maxilla Growth hormone deficiency Hyperglycemia Seizures Microcephaly Generalized hypotonia Dilatation High forehead Triangular face Hypertension Abnormality of the skeletal system Lipoatrophy Alopecia Diabetes mellitus Anemia Dysarthria Broad forehead Flexion contracture Tetralogy of Fallot Overgrowth Thin vermilion border Short palm Aortic valve calcification Hernia Thick vermilion border Pectus excavatum Genu valgum Malabsorption Pulmonic stenosis Camptodactyly Clinodactyly of the 5th finger Hip dysplasia Hepatomegaly Abnormal hair quantity Cafe-au-lait spot Frontal bossing Hypotrichosis Osteolysis Cognitive impairment Hyperkeratosis Mitral regurgitation Hypophosphatemia Wide mouth Gynecomastia Gingival overgrowth Abnormality of the pulmonary artery Abnormality of the testis Abnormality of the pinna Reduced bone mineral density Ventricular hypertrophy Dental malocclusion Abnormality of the kidney Hydronephrosis Hydrocephalus Cervical lymphadenopathy Pancreatic hypoplasia Stiff skin High, narrow palate Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Lymphedema Amblyopia Abnormality of the genital system Thick lower lip vermilion Low posterior hairline Otitis media Webbed neck Abnormal bleeding Bruising susceptibility Snoring Joint hypermobility Joint hyperflexibility Neurological speech impairment Postnatal growth retardation Feeding difficulties in infancy Polyhydramnios Constipation Arrhythmia Thrombocytopenia Midface retrusion Panniculitis Episcleritis Dysphagia Serpentine fibula Myopia Bowing of the long bones Metatarsus adductus Tricuspid regurgitation Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Short chin Wormian bones Wide anterior fontanel Short phalanx of finger Thickened skin Interphalangeal joint contracture of finger Delayed cranial suture closure Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Corneal opacity Short philtrum Camptodactyly of finger Seborrheic keratosis Joint stiffness Protruding ear Umbilical hernia Skeletal dysplasia Flared metaphysis Congenital glaucoma Cryptorchidism Broad alveolar ridges Muscular hypotonia Muscle weakness Bilateral camptodactyly Strabismus Nystagmus Anterior concavity of thoracic vertebrae Cortical irregularity Coarse hair Prominent coccyx Broad clavicles Multiple skeletal anomalies Thoracolumbar kyphosis Aseptic necrosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Upper eyelid edema Genu recurvatum Retroperitoneal fibrosis Double outlet right ventricle Premature loss of teeth Megalocornea Arnold-Chiari malformation Curly hair Abnormality of the urinary system Cleft upper lip Hyperpigmentation of the skin Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Amenorrhea Decreased testicular size Polyneuropathy Flat face Ichthyosis Hypergonadotropic hypogonadism Lymphadenopathy Abnormality of the foot Retinopathy Abnormal cardiac septum morphology Apnea Conductive hearing impairment Dyspnea Hypothyroidism Micropenis Posteriorly rotated ears Severe short stature Pneumonia Splenomegaly Edema Aspiration Elbow flexion contracture Hyperreflexia Severe sensorineural hearing impairment Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Broad finger Exocrine pancreatic insufficiency Episodic fever Type I diabetes mellitus Polycythemia Scleroderma Microcytic anemia Elevated erythrocyte sedimentation rate Corneal arcus Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Fever Abnormality of the vestibular nerve Radioulnar synostosis Acute lymphoblastic leukemia Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix High anterior hairline Premature skin wrinkling Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Aortic root aneurysm Myeloproliferative disorder Thoracic scoliosis Abnormality of cardiovascular system physiology Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Pleural effusion Failure to thrive in infancy Bilateral ptosis Elevated circulating luteinizing hormone level Enlarged thorax Prominent digit pad Superior pectus carinatum Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Amegakaryocytic thrombocytopenia Generalized lymphadenopathy Prominent nasolabial fold Myelofibrosis Facial telangiectasia Synovitis Unilateral ptosis Chylothorax Abnormality of the lymphatic system Multiple lentigines Prolonged QRS complex Abnormality of the mandible Intestinal lymphangiectasia Prominent fingertip pads Hyperkeratosis pilaris Abnormal pulmonary valve morphology Reduced factor VIII activity Pulmonary lymphangiectasia Abnormal platelet function Reduced factor XI activity Reduced factor XII activity Thickened helices Absent speech Mandibular prognathia Soft tissue sarcoma Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Spinal neurofibromas Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Inguinal freckling Arterial fibromuscular dysplasia Night sweats Narrow face Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Premature graying of hair Calf muscle hypertrophy Rocker bottom foot Premature ovarian insufficiency Abnormality of the voice Hyperinsulinemia Laryngomalacia Neoplasm of the skin Finger clinodactyly Increased bone mineral density Abnormality of the hair Cerebral artery stenosis Skin ulcer Abnormality of retinal pigmentation Thin skin Type II diabetes mellitus Convex nasal ridge Limitation of joint mobility Hepatic steatosis Retinal degeneration Congenital cataract Skeletal muscle atrophy Brow ptosis Tibial pseudoarthrosis Paraganglioma Anomalous pulmonary venous return Aplasia/Hypoplasia of the skin Autism Gastrointestinal hemorrhage Lymphoma Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Pruritus Leukemia Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypoglycemia Weight loss Abnormality of the cardiovascular system Hyperactivity Visual loss Depressivity Headache Behavioral abnormality Blindness Cardiomyopathy Macrocephaly Peripheral neuropathy Visual impairment Delayed speech and language development Pain Specific learning disability Hypsarrhythmia Complete atrioventricular canal defect Freckling Pheochromocytoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Gangrene Increased reactive oxygen species production Overweight Severe vision loss Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Tibial bowing Aganglionic megacolon Neurofibromas Pulmonary fibrosis Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Bone pain Decreased fertility Glycosuria Respiratory failure Gastrointestinal dysmotility Coloboma Respiratory tract infection EEG abnormality Thin upper lip vermilion Recurrent respiratory infections Intrauterine growth retardation Spasticity Cleft palate Infra-orbital crease Narrow philtrum Oval face Broad columella Mitral stenosis Synophrys Low hanging columella Inverted nipples Delayed ability to walk Hypoplastic left heart Deep philtrum Narrow palate Pointed chin Renal dysplasia Short palpebral fissure Renal cyst Talipes Hypermetropia Prominent nasal bridge Thick eyebrow Neonatal hypotonia Enlarged cisterna magna Prominent forehead Inguinal hernia Kyphosis Intellectual disability, severe Depressed nasal bridge Motor delay Low-set ears Skull asymmetry Curly eyelashes Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Prominent metopic ridge Downturned corners of mouth Cutis marmorata Proximal placement of thumb Widely spaced teeth Aortic regurgitation Holoprosencephaly Low anterior hairline Long eyelashes Narrow forehead Febrile seizures Esotropia Short foot Highly arched eyebrow Small hand Telecanthus Retrognathia Telangiectasia of the skin Lack of skin elasticity Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Neoplasm of the breast Generalized lipodystrophy White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Pili torti Premature arteriosclerosis Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Osteolytic defects of the phalanges of the hand Progeroid facial appearance Fragile nails Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Sparse body hair Intervertebral disc degeneration Neoplasm of the oral cavity Upslanted palpebral fissure Generalized osteoporosis Agenesis of corpus callosum Hypoplasia of the corpus callosum Polyarticular chondrocalcinosis Elevated alkaline phosphatase of bone origin Parathyroid carcinoma Calcium nephrolithiasis Abnormality of the parathyroid gland Mitral valve calcification Parathyroid hyperplasia Retinoblastoma Peptic ulcer Primary hyperparathyroidism Elevated circulating parathyroid hormone level Progressive clavicular acroosteolysis Hyperphosphaturia Hyperparathyroidism Hypercalcemia Polycystic kidney dysplasia Hypercalciuria Nephrocalcinosis Nephrolithiasis Left ventricular hypertrophy Carcinoma Renal insufficiency Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Abnormality of the ear



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