Breast carcinoma, and Spinal muscular atrophy

Diseases related with Breast carcinoma and Spinal muscular atrophy

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


Top matches:

Medium 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 WERNER SYNDROME


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

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

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Other less relevant matches:

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 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM


Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Low match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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 BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Low 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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Type II diabetes mellitus Neoplasm Myopathy Generalized hypotonia Leukemia Prematurely aged appearance Micrognathia Gait disturbance Intellectual disability Meningioma Cognitive impairment Ovarian neoplasm Scoliosis Decreased fertility Ataxia Global developmental delay Macroglossia Neoplasm of the thyroid gland Hypertension Intention tremor Telangiectasia Abnormality of the hair Cataract Multiple cafe-au-lait spots Premature graying of hair Aplasia/Hypoplasia of the skin Neoplasm of the breast Telangiectasia of the skin Proximal muscle weakness Pain Hydrocephalus Macrocephaly Renal neoplasm Lymphoma Hearing impairment Abnormality of the testis Gynecomastia Abnormal cerebellum morphology Failure to thrive Pneumonia Tremor Peripheral neuropathy Short nose Diabetes mellitus Carcinoma Flexion contracture Strabismus Recurrent infections

Rare Symptoms - Less than 30% cases


Narrow palate Narrow face Abnormal hair whorl Subcutaneous calcification Neoplasm of the small intestine Premature arteriosclerosis Increased bone mineral density Neoplasm of the oral cavity Skin ulcer Laryngomalacia Bilateral single transverse palmar creases Abnormality of retinal pigmentation Open mouth Dolichocephaly Decreased body weight Brachydactyly Melanoma Thyroid carcinoma Rocker bottom foot Neoplasm of the lung Short palm Abnormality of the thorax Abnormality of the voice Lipoatrophy Secondary amenorrhea Hypotrichosis Progeroid facial appearance White forelock Thickened nuchal skin fold Osteosarcoma Macrotia Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Pili torti Abnormality of the cerebral vasculature Frontal bossing Myopia Calf muscle hypertrophy Proximal spinal muscular atrophy Hand polydactyly Cutis marmorata Multiple lipomas Hamartoma Hashimoto thyroiditis Lipoma Limb muscle weakness Increased intracranial pressure Muscular dystrophy Intestinal polyposis Elevated serum creatine phosphokinase Hamartomatous polyposis Acrokeratosis Areflexia Trichilemmoma Fibroadenoma of the breast Intracranial hemorrhage Cranial nerve paralysis Enlarged cerebellum Respiratory insufficiency due to muscle weakness Long philtrum Kyphosis Headache Pectus excavatum Narrow mouth Hypothyroidism Short neck Delayed gross motor development Papule Neoplasm of the skin Nausea and vomiting Polymicrogyria Facial palsy Respiratory insufficiency Broad thumb Subcutaneous nodule Ptosis Retinal degeneration Convex nasal ridge Arteriovenous malformation Dysarthria Abnormality of the dentition Myeloid leukemia Hodgkin lymphoma Mucosal telangiectasiae Alopecia Cafe-au-lait spot Congestive heart failure Difficulty walking Neurological speech impairment Decreased antibody level in blood Decreased proportion of CD4-positive T cells Osteoporosis Hypogonadism Hyperkeratosis Micropenis Delayed puberty Joint stiffness Lymphopenia Anemia Immunodeficiency Cellular immunodeficiency Acute lymphoblastic leukemia Adducted thumb Severe muscular hypotonia Failure to thrive in infancy Congenital contracture Retinopathy Decreased fetal movement Abnormality of the fingernails Cerebellar atrophy Interphalangeal joint contracture of finger Hypoplasia of penis Wide intermamillary distance Narrow chest Arthrogryposis multiplex congenita Dystonia Camptodactyly of finger Inguinal hernia Proximal placement of thumb Skin dimples Myopathic facies Abnormal heart morphology Joint laxity Hydronephrosis Conductive hearing impairment Umbilical hernia Polydactyly Brachycephaly Upslanted palpebral fissure Dementia Clinodactyly of the 5th finger Obesity Multiple joint contractures Thrombocytopenia Abnormality of cardiovascular system morphology Malar flattening Edema Epicanthus Depressed nasal bridge Hernia Microphallus Degeneration of anterior horn cells Tongue fasciculations Hypospadias Loss of ability to walk in early childhood Abnormality of metabolism/homeostasis Acidosis Intellectual disability, progressive Aminoaciduria Lumbar hyperlordosis Waddling gait Hepatic failure Lactic acidosis Ophthalmoplegia Irritability Hyperlordosis Anxiety Respiratory failure Elevated hepatic transaminase Cerebral atrophy Respiratory tract infection Fatigue Abnormality of the liver Distal muscle weakness Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Limb tremor Scapular winging External ophthalmoplegia Recurrent respiratory infections Abnormality of the basal ganglia Myoclonus Gait ataxia Wide nasal bridge Cryptorchidism Depletion of mitochondrial DNA in muscle tissue Microtia Generalized aminoaciduria Weak voice Decreased activity of mitochondrial respiratory chain Respiratory arrest Severe lactic acidosis Ragged-red muscle fibers Facial diplegia Mitochondrial myopathy Progressive external ophthalmoplegia Ankle contracture Generalized amyotrophy Decreased muscle mass Toe walking Gowers sign Nasal speech EMG: myopathic abnormalities Infantile muscular hypotonia Developmental regression Neutropenia Spasticity Abdominal wall muscle weakness Mitral valve prolapse Hip dysplasia Limitation of joint mobility Hepatic steatosis Thin vermilion border Congenital cataract Pes planus Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Subcutaneous hemorrhage Thin skin Visceral angiomatosis Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Aortic aneurysm Cachexia Lymphedema Tall stature Nevus Hypertriglyceridemia Aortic valve stenosis Joint hyperflexibility Exercise-induced myalgia Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Intervertebral disc degeneration Abnormality of the Achilles tendon Fasting hyperinsulinemia Aortic valve calcification Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery Prominent superficial veins Finger clinodactyly Osteolytic defects of the phalanges of the hand Fragile nails Insulin-resistant diabetes mellitus Sparse body hair Glycosuria Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Hyperglycemia Premature ovarian insufficiency Hyperinsulinemia Reduced bone mineral density Wide nose Hypoglycemia Anal atresia Sandal gap Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Broad palm Atrioventricular canal defect Hydroureter Alzheimer disease Cholelithiasis Renal hypoplasia/aplasia Microcephaly Neurofibrillary tangles Aganglionic megacolon Depressed nasal ridge Thick lower lip vermilion Microdontia Postural instability Decreased LDL cholesterol concentration Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Nystagmus Flat face Congenital hypothyroidism Polycythemia Delayed skeletal maturation Shallow acetabular fossae Anteverted nares Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Duodenal stenosis Protruding tongue Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Thrombocytosis Tongue atrophy Abnormality of lipid metabolism Hyperlipoproteinemia Absent Achilles reflex Chromosome breakage Recurrent bronchitis B-cell lymphoma Motor delay Delayed speech and language development High palate Low-set ears Lymphoproliferative disorder Hypertelorism Spinocerebellar tract degeneration Hypoplasia of the thymus Recurrent lower respiratory tract infections Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Chronic lymphatic leukemia Gastrointestinal carcinoma Abnormality of chromosome stability Conjunctival telangiectasia Poliosis Chronic myelogenous leukemia Soft tissue sarcoma Chorioretinitis Downslanted palpebral fissures Severe combined immunodeficiency Narrow nasal ridge Combined immunodeficiency Exotropia Chronic diarrhea Slurred speech Polycystic ovaries Overgrowth Athetosis Hypoplasia of the maxilla Palmoplantar keratoderma Glucose intolerance Joint hypermobility Resting tremor Atrial septal defect Abnormality of the kidney Intellectual disability, moderate Abnormality of the immune system IgA deficiency Autism Dilatation Hypopigmentation of hair Hepatocellular carcinoma Intellectual disability, mild Diarrhea Cutaneous melanoma Arteriosclerosis Reduced tendon reflexes Hoarse voice Myelodysplasia Lipodystrophy Dermal atrophy Sarcoma Behavioral abnormality Atherosclerosis Macular degeneration Type I diabetes mellitus Spontaneous abortion Hypergonadotropic hypogonadism Rod-cone dystrophy Visual impairment Insulin resistance Sparse scalp hair Myocardial infarction Decreased testicular size Proptosis Chest pain Coma Hypopigmentation of the skin Small hand Nephropathy Polydipsia Polyuria Enlarged joints Pulmonary artery stenosis Abnormal spermatogenesis Elevated alpha-fetoprotein Slender build Chronic hepatitis Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Non-Hodgkin lymphoma Progressive spinal muscular atrophy Posterior subcapsular cataract Immunoglobulin IgG2 deficiency Squamous cell carcinoma Alopecia of scalp Premature loss of teeth Subcapsular cataract Decreased/absent ankle reflexes Interosseus muscle atrophy Scleroderma IgE deficiency Defective B cell differentiation Polyphagia High pitched voice Cerebral palsy Oculomotor apraxia Testicular atrophy Dysplastic gangliocytoma of the cerebellum Abnormality of movement Hyporeflexia Unsteady gait Dysphagia Distal amyotrophy Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Polyneuropathy Abnormality of eye movement Progressive cerebellar ataxia Cutis marmorata telangiectatica congenita Chorea Transitional cell carcinoma of the bladder Hepatitis Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Myalgia Infertility Thyroid adenoma Bulbar palsy Kinetic tremor Oligospermia Distal lower limb amyotrophy Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Axonal loss Muscle fibrillation Impotence Facial asymmetry Amyotrophic lateral sclerosis Limb-girdle muscular dystrophy Dysphonia Hyperlipidemia Aspiration Fasciculations Progressive muscle weakness Muscle cramps Neurodegeneration Sensory neuropathy Varicocele Intestinal polyp Drooling Abnormality of the thyroid gland Bronchiectasis Scaphocephaly Limb ataxia Renal cell carcinoma Thyroiditis Hyperthyroidism Acute myeloid leukemia Cellulitis Cystic hygroma Sinusitis Macule Papilledema Abnormal vertebral morphology Melanocytic nevus Truncal ataxia Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Hypopigmented skin patches Recurrent pneumonia Hemangioma Abnormality of the vasculature Prolactin excess Ovarian carcinoma Enlarged polycystic ovaries Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Apraxia Papilloma Cavernous hemangioma Skin tags Long penis Bone cyst Pancytopenia Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Choreoathetosis Hydrocele testis Megalencephaly Abnormality of circulating leptin level



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