Breast carcinoma, and Muscle cramps

Diseases related with Breast carcinoma and Muscle cramps

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


Top matches:

Low match COMPLETE ANDROGEN INSENSITIVITY SYNDROME


Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

COMPLETE ANDROGEN INSENSITIVITY SYNDROME Is also known as cais|complete androgen resistance syndrome

Related symptoms:

  • Cryptorchidism
  • Tremor
  • Inguinal hernia
  • Osteoporosis
  • Infertility


SOURCES: ORPHANET MENDELIAN

More info about COMPLETE ANDROGEN INSENSITIVITY SYNDROME

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low 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 DEFICIENCY

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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 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 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-TELANGIECTASIA

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

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Muscle cramps

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Muscular hypotonia Gait disturbance Generalized hypotonia Dysarthria Skeletal muscle atrophy Global developmental delay Type II diabetes mellitus Abnormal cerebellum morphology Pneumonia Recurrent infections Failure to thrive Muscle weakness Strabismus Intention tremor Short stature Leukemia Gynecomastia Cognitive impairment Carcinoma

Rare Symptoms - Less than 30% cases


Developmental regression Multiple cafe-au-lait spots Neurological speech impairment Immunodeficiency Aspiration pneumonia Prematurely aged appearance Nausea and vomiting Hodgkin lymphoma Nystagmus Anxiety Macroglossia Microcephaly Lymphoma Delayed speech and language development Motor delay Flexion contracture Lymphopenia Diarrhea Hypertonia Thrombocytopenia Cafe-au-lait spot Telangiectasia Weight loss Autism Acute lymphoblastic leukemia Decreased antibody level in blood Anemia Intestinal polyposis Myopia Decreased proportion of CD4-positive T cells Mucosal telangiectasiae Pain Peripheral neuropathy Hydrocephalus Myopathy Decreased fertility Hepatocellular carcinoma Difficulty walking Proximal muscle weakness Neoplasm of the thyroid gland Brachydactyly Cellular immunodeficiency Increased intracranial pressure Hypothyroidism Narrow mouth Spinal muscular atrophy Scoliosis Aspiration Ovarian carcinoma Hearing impairment Cataract Infertility Sensory neuropathy Neurofibrillary tangles Polycythemia Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Atlantoaxial instability Transposition of the great arteries Congenital hypothyroidism Thrombocytosis Protruding tongue Neutrophilia Abnormality of the fontanelles or cranial sutures Thickened nuchal skin fold Double outlet right ventricle Shallow acetabular fossae Hypoplastic iliac wing Senile plaques Duodenal stenosis Abnormality of the lymphatic system Acute monocytic leukemia Hypoxemia Myeloproliferative disorder Short middle phalanx of the 5th finger Pulmonary edema Complete atrioventricular canal defect Cryptorchidism Broad palm Abnormal heart morphology Hydronephrosis Conductive hearing impairment Umbilical hernia Polydactyly Brachycephaly Upslanted palpebral fissure Dementia Clinodactyly of the 5th finger Obesity Microtia Abnormality of cardiovascular system morphology Malar flattening Short nose Abnormality of the dentition Edema Short neck Epicanthus Hypertension Depressed nasal bridge Joint laxity Hypotrichosis Atrioventricular canal defect Depressed nasal ridge Hydroureter Alzheimer disease Cholelithiasis Renal hypoplasia/aplasia Sandal gap Narrow palate Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Thick lower lip vermilion Anal atresia Transient myeloproliferative syndrome Microdontia Postural instability Neutropenia Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Flat face Crackles Joint hypermobility Brushfield spots Abnormality of the uterus Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Ovarian cyst Astrocytoma Furrowed tongue Neoplasm of the central nervous system Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Generalized hyperkeratosis Adenoma sebaceum Renal cell carcinoma Acrokeratosis Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Transitional cell carcinoma of the bladder Pseudopapilledema Colonic diverticula Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Hashimoto thyroiditis Thyroiditis Round ear Kyphosis Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria IgE deficiency Papule Abnormality of the kidney Intellectual disability, moderate Pectus excavatum Dilatation Headache Intellectual disability, mild Broad thumb Atrial septal defect Frontal bossing Downslanted palpebral fissures Macrocephaly High palate Low-set ears Micrognathia Hypertelorism Acute megakaryocytic leukemia Left-to-right shunt Overgrowth Subcutaneous nodule Hyperthyroidism Intracranial hemorrhage Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Dysdiadochokinesis Chronic diarrhea Incoordination Palmoplantar hyperkeratosis Goiter Melanoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Exotropia Defective B cell differentiation Myeloid leukemia Interosseus muscle atrophy Alopecia Febrile seizures Tetraplegia Iris coloboma Lethargy Coloboma Autistic behavior Hyperactivity Agenesis of corpus callosum Encephalopathy Leukopenia Cerebral atrophy Microphthalmia Ventriculomegaly Optic atrophy Fever Hepatomegaly Growth delay Proximal spinal muscular atrophy Laryngospasm Spastic tetraplegia Delayed gross motor development Exercise-induced muscle cramps Abdominal pain Gastrointestinal hemorrhage Migraine Dyskinesia Paresthesia Malabsorption Attention deficit hyperactivity disorder Abnormal pyramidal sign Irritability Constipation Hypoventilation Depressivity Behavioral abnormality Fatigue Visual impairment Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Erectile abnormalities Motor neuron atrophy Hallucinations Dysphagia Neurodegeneration Facial asymmetry Limb muscle weakness Muscular dystrophy Myalgia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Aplasia/Hypoplasia of the fallopian tube Fasciculations Testicular gonadoblastoma Absent pubic hair Absent axillary hair Aplasia of the uterus Male pseudohermaphroditism Nephrolithiasis Primary amenorrhea Osteoporosis Inguinal hernia Progressive muscle weakness Hyperlipidemia Limb tremor Hand tremor Tongue atrophy Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Distal lower limb amyotrophy Bulbar signs Abnormality of the mouth Dysphonia Overweight Abnormality of lipid metabolism Axonal loss Muscle fibrillation Bulbar palsy Impotence Amyotrophic lateral sclerosis Calf muscle hypertrophy Limb-girdle muscular dystrophy Memory impairment Hemiplegia/hemiparesis Decreased/absent ankle reflexes Premature graying of hair Recurrent lower respiratory tract infections Severe combined immunodeficiency Hypopigmentation of hair IgA deficiency Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Combined immunodeficiency Recurrent bronchitis Glucose intolerance Athetosis Polycystic ovaries Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Chromosome breakage Renal neoplasm Abnormal vertebral morphology Abnormal spermatogenesis Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Elevated alpha-fetoprotein Neoplasm of the breast B-cell lymphoma Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Abnormality of the hair Sinusitis Basal cell carcinoma Glioblastoma multiforme Abnormality of the ear Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Pancreatic adenocarcinoma Cerebellar atrophy Leiomyosarcoma Amaurosis fugax Dysgraphia Prostate cancer Pituitary adenoma Neoplasm of the pancreas Neuroblastoma Colon cancer Visual field defect Spasticity Dystonia Limb ataxia Unsteady gait Bronchiectasis Choreoathetosis Pancytopenia Apraxia Hepatitis Chorea Progressive cerebellar ataxia Polyneuropathy Distal amyotrophy Abnormality of movement Recurrent respiratory infections Abnormality of eye movement Delayed puberty Distal muscle weakness Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Gait ataxia Diabetes mellitus Myoclonus Lobular carcinoma in situ



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Muscular dystrophy, related diseases and genetic alterations Abnormality of the skeletal system and Pectus excavatum, related diseases and genetic alterations Lymphoma and Midface retrusion, related diseases and genetic alterations Brachydactyly and Abnormality of the foot, related diseases and genetic alterations

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