Breast carcinoma, and Ventricular septal defect

Diseases related with Breast carcinoma and Ventricular septal defect

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

Top matches:

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

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

Low match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Other less relevant matches:

Low match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match PENILE AGENESIS

Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Breast carcinoma and Ventricular septal defect

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Breast carcinoma and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Cognitive impairment Hearing impairment Abnormality of the kidney Depressed nasal bridge Seizures Ptosis Polydactyly Open mouth Carcinoma Wide intermamillary distance Postaxial polydactyly Anal atresia Attention deficit hyperactivity disorder Leukemia Abnormality of cardiovascular system morphology Cryptorchidism Short neck Macrocephaly Low-set ears High palate Downslanted palpebral fissures Atrial septal defect Hydrocephalus Pain

Rare Symptoms - Less than 30% cases

Gait disturbance Myopia Short nose Recurrent infections Hypospadias Brachydactyly Epicanthus Cataract Muscular hypotonia Leiomyosarcoma Neoplasm of the central nervous system Complete atrioventricular canal defect Astrocytoma Meningioma Renal cell carcinoma Multiple cafe-au-lait spots Incoordination Spina bifida Cafe-au-lait spot Clinodactyly of the 5th finger Developmental regression Narrow mouth Decreased fertility Drooling Gynecomastia Pectus excavatum Neoplasm of the thyroid gland Intestinal polyposis Ovarian neoplasm Hemiplegia/hemiparesis Increased intracranial pressure Nausea and vomiting Neurological speech impairment Thickened nuchal skin fold Hydroureter Hypothyroidism Renal hypoplasia/aplasia Thick lower lip vermilion Macroglossia Posteriorly rotated ears Bicuspid aortic valve Webbed neck Downturned corners of mouth Overgrowth Flat face Microtia Hydronephrosis Conductive hearing impairment Aganglionic megacolon Constipation Gastrointestinal hemorrhage Depressivity Abnormality of the skeletal system Malabsorption Behavioral abnormality Intellectual disability, mild Headache Parathyroid adenoma Dilatation Abnormal heart morphology Hypertension Carcinoid tumor Hyperactivity Weight loss Osteopenia Hypertrophic cardiomyopathy Recurrent fractures Autism Dysarthria Pulmonic stenosis Abnormal facial shape Visual impairment Delayed speech and language development Paresthesia Facial asymmetry Neoplasm of the endocrine system Anemia Hypophosphatemia Lymphoma Micropenis Abnormality of metabolism/homeostasis Thyroid adenoma Nephrolithiasis Left ventricular hypertrophy Ovarian carcinoma Intestinal polyp Varicocele Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Nephrocalcinosis Merkel cell skin cancer Hypercalciuria Acrokeratosis Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Transitional cell carcinoma of the bladder Hamartomatous polyposis Follicular thyroid carcinoma Multiple trichilemmomata Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Ductal carcinoma in situ Lobular carcinoma in situ Fibroma Ovarian cyst Papilloma Neoplasm of the skin Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Melanoma Hypopigmented skin patches Hemangioma Polycystic kidney dysplasia Cranial nerve paralysis Lymphopenia Macule Hypercalcemia Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Decreased antibody level in blood Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Cutis marmorata Abnormality of the thyroid gland Enlarged polycystic ovaries Prolactin excess Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Hypoplasia of penis Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Megalencephaly Skin tags Papilledema Multiple lipomas Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Pulmonary hypoplasia Abnormality of the endocrine system Ambiguous genitalia Abnormal sacrum morphology Dental malocclusion Low-set, posteriorly rotated ears Polyhydramnios Limited neck range of motion Decreased cervical spine mobility Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Aplasia of the ulna Congenital muscular torticollis Abnormality of the shoulder Sparse eyebrow Short sternum Fused cervical vertebrae Ectopic anus Abnormal cranial nerve morphology Sprengel anomaly Abnormality of the vertebral column Vertebral fusion Low posterior hairline Abnormality of the ribs Cleft upper lip Sparse and thin eyebrow Cubitus valgus Cleft lip Poor speech Sparse lateral eyebrow Inverted nipples Long palpebral fissure Overlapping toe Oligodontia Sacral dimple Hip dysplasia Underdeveloped nasal alae Long face Dolichocephaly Bilateral cryptorchidism Abnormal cardiac septum morphology Craniosynostosis Hyporeflexia Feeding difficulties Pectus excavatum of inferior sternum High anterior hairline Blue irides Curly hair Prolonged bleeding time Abnormality of coagulation Abnormality of the pinna Cleft palate Oligohydramnios Ambiguous genitalia, male Fetal pyelectasis Unilateral renal hypoplasia Bilateral lung agenesis Abnormality of the bladder Anorectal anomaly Bilateral renal hypoplasia Atrophy of the spinal cord Bilateral renal agenesis Urogenital sinus anomaly Perineal hypospadias Incomplete male pseudohermaphroditism Cystic renal dysplasia Joint hypermobility Maternal diabetes Male pseudohermaphroditism Bilateral talipes equinovarus Tracheoesophageal fistula Bifid scrotum Abnormality of the voice Scrotal hypoplasia Abnormality of the hair Rectal fistula Cloacal abnormality Sensorineural hearing impairment Decreased testicular size Periventricular leukomalacia Slender finger High hypermetropia Supernumerary nipple Spastic diplegia Ventricular hypertrophy Finger clinodactyly Amblyopia Narrow forehead Thick vermilion border Absent penis Wide nose Astigmatism Hypermetropia Thin upper lip vermilion Retrognathia Clinodactyly Nystagmus Microcephaly Urethral fistula Urethral atresia, male Polymicrogyria Motor delay Papule Subcutaneous neurofibromas Hypoglycemia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Strabismus Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Kyphoscoliosis Glaucoma Epigastric pain Respiratory insufficiency Polyarticular chondrocalcinosis Postural instability Neutropenia Single transverse palmar crease Short palm Hypotrichosis Peripheral neuropathy Joint laxity Umbilical hernia Cardiomyopathy Osteoporosis Blindness Brachycephaly Upslanted palpebral fissure Dementia Obesity Thrombocytopenia Malar flattening Abnormality of the dentition Edema Visual loss Soft tissue sarcoma Dural ectasia Type II diabetes mellitus Venous thrombosis Tibial bowing Neurofibromas Pulmonary fibrosis Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Reduced bone mineral density Atherosclerosis Genu valgum Sensorimotor neuropathy Bone pain Peripheral axonal neuropathy Abnormality of skin pigmentation Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Freckling Osteomalacia Fibular bowing Paraganglioma Gastrointestinal stroma tumor Autistic behavior Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Night sweats Severe vision loss Anomalous pulmonary venous return Paralysis Pheochromocytoma Aqueductal stenosis Pruritus Brain neoplasm Myocardial fibrosis Gangrene Increased reactive oxygen species production Overweight Microdontia Elevated alkaline phosphatase of bone origin Intellectual disability, moderate Colon cancer Pancreatic adenocarcinoma Amaurosis fugax Dysgraphia Prostate cancer Primary hyperparathyroidism Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Neuroblastoma Visual field defect Agnosia Basal cell carcinoma Peptic ulcer Hallucinations Memory impairment Migraine Dyskinesia Retinoblastoma Parathyroid hyperplasia Abnormal pyramidal sign Glioblastoma multiforme Generalized osteoporosis Anxiety Specific learning disability Proximal muscle weakness Immunodeficiency Kyphosis Diarrhea Myopathy Hyperparathyroidism Frontal bossing Tremor Skeletal muscle atrophy Hyperphosphaturia Benign neoplasm of the central nervous system Elevated circulating parathyroid hormone level Muscle weakness Micrognathia Failure to thrive Ataxia Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Irritability Abdominal pain Depressed nasal ridge Transposition of the great arteries Thrombocytosis Protruding tongue Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Broad palm Aortic valve calcification Atrioventricular canal defect Mitral valve calcification Abnormality of the parathyroid gland Alzheimer disease Cholelithiasis Calcium nephrolithiasis Sandal gap Narrow palate Bilateral single transverse palmar creases Parathyroid carcinoma Acute lymphoblastic leukemia Double outlet right ventricle Renal insufficiency Atlantoaxial instability Hypertonia Fatigue Flexion contracture Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Neutrophilia Hypoplastic iliac wing Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Wide nasal ridge


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