Breast carcinoma, and Gait disturbance
Diseases related with Breast carcinoma and Gait disturbance
In the following list you will find some of the most common rare diseases related to Breast carcinoma and Gait disturbance that can help you solving undiagnosed cases.
Top 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 SYNDROMELow match ATAXIA-TELANGIECTASIA
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about ATAXIA-TELANGIECTASIALow 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
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Other less relevant matches:
Low match MAFFUCCI SYNDROME
Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
MAFFUCCI SYNDROME Is also known as maffucci syndrome
Related symptoms:
- Short stature
- Scoliosis
- Growth delay
- Anemia
- Dysphagia
SOURCES: ORPHANET OMIM MENDELIAN
More info about MAFFUCCI SYNDROMELow match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCYLow match COWDEN SYNDROME 5; CWS5
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Micrognathia
More info about COWDEN SYNDROME 5; CWS5
Low match COWDEN SYNDROME 6; CWS6
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Micrognathia
More info about COWDEN SYNDROME 6; CWS6
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
More info about APOCRINE GLAND SECRETION, VARIATION IN
Low match BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
Related symptoms:
- Neoplasm
- Breast carcinoma
- Ovarian neoplasm
More info about BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
Low match SAETHRE-CHOTZEN SYNDROME
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: OMIM ORPHANET MENDELIAN
More info about SAETHRE-CHOTZEN SYNDROMETop 5 symptoms//phenotypes associated to Breast carcinoma and Gait disturbance
| Symptoms // Phenotype | % cases |
|---|---|
| Neoplasm | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Strabismus | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Breast carcinoma and Gait disturbance. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hearing impairment Short stature Global developmental delay Cataract Hypoplasia of the maxilla Anemia Myopia Narrow mouth Hypothyroidism Intention tremor Goiter Microcephaly Ovarian neoplasm Flexion contracture Muscular hypotonia
Rare Symptoms - Less than 30% cases
Hashimoto thyroiditis Thyroid adenoma Abnormality of cardiovascular system morphology Malar flattening Subcutaneous lipoma Brachydactyly Epicanthus Hypertension Depressed nasal bridge Colonic diverticula Angioid streaks of the fundus Progressive macrocephaly Varicocele Abnormal heart morphology Generalized hypotonia Transitional cell carcinoma of the bladder Fibroadenoma of the breast Neoplasm of the breast Acute lymphoblastic leukemia Prematurely aged appearance Cerebral palsy Type II diabetes mellitus Thrombocytopenia Clinodactyly of the 5th finger Thyroiditis Micrognathia Hyperthyroidism Palmoplantar hyperkeratosis Gynecomastia Abnormality of the cardiovascular system Skin tags Pectus excavatum Kyphosis Intellectual disability, mild High palate Meningioma Optic atrophy Brachycephaly Hydrocele testis Growth delay Narrow palate Pneumonia Furrowed tongue Single transverse palmar crease Flat face Microtia Conductive hearing impairment Ovarian cyst Hamartomatous polyposis Leukemia Bilateral single transverse palmar creases Recurrent infections Hepatocellular carcinoma Migraine Increased intracranial pressure Neurological speech impairment Pituitary adenoma Developmental regression Anxiety Carcinoma Weight loss Cognitive impairment Nystagmus Failure to thrive Hypertonia Dysarthria Ataxia Leukopenia Hemiplegia/hemiparesis Uraciluria Reduced dihydropyrimidine dehydrogenase activity Hypoventilation Recurrent aspiration pneumonia Aspiration pneumonia Delayed gross motor development Hallucinations Diffuse cerebral atrophy Stomatitis Nausea and vomiting Memory impairment Gastrointestinal hemorrhage Dyskinesia Paresthesia Spastic tetraplegia Malabsorption Attention deficit hyperactivity disorder Abnormal pyramidal sign Irritability Abdominal pain Constipation Depressivity Behavioral abnormality Fatigue Visual impairment Aspiration Febrile seizures Hypertelorism Neurofibromas Multiple enchondromatosis Multiple exostoses Chondrosarcoma Astrocytoma Parathyroid adenoma Osteosarcoma Exostoses Pathologic fracture Sarcoma Hemangiomatosis Visual field defect Hemangioma Venous thrombosis Cranial nerve paralysis Osteolysis Bone pain Subcutaneous nodule Recurrent fractures Osteochondroma Neoplasm of the adrenal cortex Tetraplegia Encephalopathy Iris coloboma Lethargy Coloboma Autistic behavior Autism Hyperactivity Agenesis of corpus callosum Alopecia Cerebral atrophy Neoplasm of the parathyroid gland Microphthalmia Diarrhea Ventriculomegaly Basal cell carcinoma Fever Hepatomegaly Motor delay Delayed speech and language development Abnormality of the ear Abnormal facial shape Sensorineural hearing impairment Coronal craniosynostosis Oxycephaly Buphthalmos Abnormal hair pattern Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Abnormality of the antihelix Short columella Abnormality of the skull Lambdoidal craniosynostosis Bilateral cleft lip Shallow orbits Narrow nose External ear malformation Abnormality of digit Vertebral fusion Long nose Delayed cranial suture closure Anterior plagiocephaly Lacrimal duct stenosis Hallux valgus Deviated nasal septum Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Renotubular dysgenesis Prominent crus of helix Proximal radio-ulnar synostosis Premature closure of fontanelles Duplication of the distal phalanx of hand Skull asymmetry Craniofacial dysostosis Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Congenital adrenal hyperplasia Broad hallux Open bite Colon cancer Proptosis Protruding ear Hyperlordosis Low-set, posteriorly rotated ears Cleft lip Intellectual disability, moderate Telecanthus High forehead Mandibular prognathia Posteriorly rotated ears Prominent nasal bridge Clinodactyly Midface retrusion Syndactyly Abnormality of the skeletal system Low-set ears Ptosis Cryptorchidism Cleft palate Craniosynostosis Broad forehead Epiphora Coxa valga Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Abnormality of the genitourinary system Sleep apnea Cutaneous syndactyly Plagiocephaly Elbow flexion contracture Finger syndactyly Low anterior hairline Amblyopia Broad thumb Abnormal form of the vertebral bodies Hypotelorism Convex nasal ridge Dental malocclusion Facial asymmetry Toe syndactyly Dysphagia Brushfield spots Acute megakaryocytic leukemia Myeloid leukemia Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Peripheral neuropathy Abnormality of the immune system Renal neoplasm Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Recurrent bronchitis B-cell lymphoma Polycystic ovaries Spasticity Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Chronic myelogenous leukemia Abnormality of the testis Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Spinal muscular atrophy Slurred speech Progressive spinal muscular atrophy Dystonia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Delayed puberty Distal muscle weakness Chorea Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Myoclonus Recurrent respiratory infections Progressive cerebellar ataxia Lymphoma Skeletal muscle atrophy Cafe-au-lait spot Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Limb ataxia Decreased antibody level in blood Bronchiectasis Telangiectasia Choreoathetosis Tremor Pancytopenia Cerebellar atrophy Apraxia Hepatitis Non-Hodgkin lymphoma Immunoglobulin IgG2 deficiency Left-to-right shunt Broad palm Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Atrioventricular canal defect Thrombocytosis Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Renal hypoplasia/aplasia Sandal gap Neuroblastoma Aganglionic megacolon Protruding tongue Thickened nuchal skin fold Depressed nasal ridge Duodenal stenosis Round ear Immunodeficiency Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Abnormality of the lymphatic system Double outlet right ventricle Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Open mouth Thick lower lip vermilion Decreased/absent ankle reflexes Short neck Obesity Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Short nose Abnormality of the dentition Edema Hydrocephalus Neoplasm of the skeletal system Pancreatic adenocarcinoma Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Muscle weakness Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Glioblastoma multiforme Dementia Microdontia Hypotrichosis Macroglossia Postural instability Neutropenia Neoplasm of the pancreas Downturned corners of mouth Postaxial polydactyly Short palm Anal atresia Intestinal polyposis Upslanted palpebral fissure Joint laxity Hydronephrosis Prostate cancer Umbilical hernia Dysgraphia Amaurosis fugax Polydactyly Leiomyosarcoma Cleft of chin
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