Cardiomyopathy, and Urinary incontinence

Diseases related with Cardiomyopathy and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Urinary incontinence that can help you solving undiagnosed cases.


Top matches:

Medium match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Medium match GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET


Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Medium match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

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Other less relevant matches:

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Urinary incontinence

Symptoms // Phenotype % cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Muscle weakness Arrhythmia Peripheral neuropathy Ataxia Dementia Behavioral abnormality Failure to thrive Paresthesia Sensorineural hearing impairment Abnormality of the cerebral white matter Renal insufficiency Nystagmus Gastroesophageal reflux Short stature Respiratory insufficiency Left ventricular hypertrophy Cardiomegaly Growth delay Dilatation Myalgia Dyspnea Fever Progressive sensorineural hearing impairment Hypotension Hyperhidrosis Depressivity Nephropathy Constipation Abnormal renal physiology Impotence Splenomegaly Orthostatic hypotension Emphysema Areflexia Headache Dysarthria Stroke Vomiting Fatigue Proteinuria Global developmental delay Abnormality of the kidney Spasticity Intellectual disability Paraplegia Dystonia Impaired temperature sensation Acidosis Myopathy Optic atrophy Atrioventricular block Cataract Progressive muscle weakness Restrictive cardiomyopathy Dilated cardiomyopathy Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Dysphagia Motor delay Feeding difficulties Gait disturbance

Rare Symptoms - Less than 30% cases


Delayed speech and language development Recurrent respiratory infections Ptosis Cerebral atrophy Scoliosis Encephalopathy Visual loss Chronic obstructive pulmonary disease Myocardial fibrosis Chronic fatigue Hypoglycemia High-frequency hearing impairment Horizontal nystagmus Polycystic ovaries Progressive visual loss Abnormality of movement Memory impairment Nephrocalcinosis Tubulointerstitial fibrosis Confusion Hepatosplenomegaly Respiratory failure Polydipsia Polyuria Diabetes insipidus Impaired vibratory sensation Delayed puberty Stage 5 chronic kidney disease Nausea Tachycardia Personality changes Hematuria Anxiety Abdominal distention Abnormality of the hand Chronic kidney disease Nephrotic syndrome Atrial fibrillation Ventricular arrhythmia Ovarian cyst Ischemic stroke Anorexia Cough Hypothyroidism Conductive hearing impairment Tubular atrophy Obsessive-compulsive behavior Supraventricular tachycardia Abnormality of the cardiovascular system Type II diabetes mellitus Ventricular hypertrophy Oligospermia Macular degeneration Atherosclerosis Elevated serum creatinine Hyperkeratosis Tubulointerstitial nephritis Increased muscle fatiguability Shortened PR interval Renal tubular acidosis Glycosuria Anemia Hypertension Glomerulopathy Abdominal pain Urinary retention Hyperlipidemia Difficulty walking Coma ST segment depression Bilateral sensorineural hearing impairment Peripheral demyelination Rod-cone dystrophy Hypertonia Neuronal loss in central nervous system Abnormality of metabolism/homeostasis Babinski sign Gait ataxia Vesicoureteral reflux Diabetes mellitus Malabsorption Mental deterioration Arthritis Spastic paraplegia Weight loss Hyporeflexia Diarrhea Polyneuropathy Peripheral axonal neuropathy Hallucinations Psychomotor deterioration Abnormal autonomic nervous system physiology Bowel incontinence Urinary urgency EMG abnormality Stroke-like episode Muscular hypotonia Limb muscle weakness Decreased glomerular filtration rate Involuntary movements Paraparesis Macroglossia Distal renal tubular acidosis Visual impairment Hemiparesis Decreased liver function Elevated hepatic transaminase Spastic paraparesis Carious teeth Abnormality of the liver Abnormal retinal morphology Pulmonic stenosis Chorioretinal atrophy Generalized tonic-clonic seizures Agenesis of permanent teeth Retinopathy Hypermetropia Hypotrichosis Nyctalopia Ophthalmoplegia Sparse hair Pericardial effusion Polyphagia Scarring Short finger Chronic diarrhea Bronchitis Insulin-resistant diabetes mellitus Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Deeply set eye Retinal atrophy Irritability Hypoventilation Hyperuricemia Postnatal growth retardation Severe sensorineural hearing impairment Respiratory tract infection Autoimmune thrombocytopenia Pallor Thoracic scoliosis Hydroureter Pericarditis Autistic behavior Subcapsular cataract Increased number of teeth Truncal obesity Hepatic failure Pulmonary fibrosis Recurrent pneumonia Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Cyanosis Acanthosis nigricans Accelerated skeletal maturation Absence seizures Hypogonadotrophic hypogonadism Generalized hirsutism Increased body weight Pigmentary retinopathy Hepatitis Optic disc pallor Specific learning disability Epidermal acanthosis Hypergonadotropic hypogonadism Pulmonary arterial hypertension Hypertriglyceridemia Recurrent otitis media Short toe Recurrent urinary tract infections Gynecomastia Ketoacidosis Hyperpigmentation of the skin Hepatic fibrosis Insulin resistance Thickened skin Goiter Cholelithiasis Glucose intolerance Aplasia/Hypoplasia of the cerebellum Hyperglycemia Hyperostosis Acne Infertility Dry skin Retinal degeneration Lymphadenopathy Cirrhosis Abnormality of retinal pigmentation Constriction of peripheral visual field Hirsutism Retinal dystrophy Hepatic steatosis Sleep disturbance Elevated alkaline phosphatase Ascites Asthma Chronic otitis media Round face Nephritis Portal hypertension Gastrointestinal hemorrhage Growth hormone deficiency Otitis media Lipodystrophy Hyperinsulinemia Precocious puberty Decreased testicular size Sinusitis Albuminuria Gingivitis Motor axonal neuropathy Impaired pain sensation Restlessness Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Acanthocytosis Rhabdomyolysis Tics Orofacial dyskinesia Excessive salivation Hyporeflexia of lower limbs Personality disorder Generalized limb muscle atrophy Impaired vibration sensation in the lower limbs Sensory axonal neuropathy Abnormal lactate dehydrogenase activity Dyskinesia Localized hirsutism Vitreous haze Abnormality of the femoral head Rigidity Lower limb muscle weakness Hemolytic anemia Sensory neuropathy Ventricular fibrillation Parkinsonism Chorea Generalized-onset seizure Sensorimotor neuropathy Cardiac arrest Sleep apnea Emotional lability Abnormal social behavior Caudate atrophy Abnormality of prothrombin Proximal renal tubular acidosis Severe postnatal growth retardation Tetany Vaginal atresia Aplasia of the uterus Hypocalcemic seizures Uterus didelphys Pseudopapilledema Basal ganglia calcification Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Hypoparathyroidism Unilateral renal agenesis Abnormal corpus striatum morphology Abnormal heart morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Cleft palate Hydronephrosis Psoriasiform dermatitis Ectodermal dysplasia Renal dysplasia Hypocalcemia Multicystic kidney dysplasia Hyperkinesis Abnormality of the urinary system Polycystic kidney dysplasia Abnormality of renal calyx morphology EEG with occipital slowing Pendular nystagmus Multinodular goiter Chills Acute pancreatitis Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Bull's eye maculopathy Poor fine motor coordination Vertical nystagmus Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Pyelonephritis Arteriosclerosis Abnormal spermatogenesis Esophageal varix Attenuation of retinal blood vessels Right ventricular hypertrophy Acute hepatic failure Recurrent bronchitis Myocarditis Male hypogonadism Decreased HDL cholesterol concentration Elevated C-reactive protein level Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Abnormal left ventricle morphology Testicular atrophy Abnormality of the optic disc Chronic infection Precocious puberty in females Granular macular appearance Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Thickened ears High-frequency sensorineural hearing impairment Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Increased circulating androgen level Childhood-onset truncal obesity Abnormality of the urethra Abnormal muscle tone Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture Female hypogonadism Renovascular hypertension Multifocal atrial tachycardia Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism Photophobia Abnormality of the nose Jaundice 3-Methylglutaconic aciduria Aspiration Generalized muscle weakness Muscular dystrophy Paralysis Proximal muscle weakness EEG abnormality Osteopenia Skeletal muscle atrophy Generalized hypotonia Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia Abnormality of the basal ganglia Respiratory insufficiency due to muscle weakness Skeletal myopathy Short attention span Athetosis Leukoencephalopathy Spastic tetraparesis Limb ataxia Choreoathetosis Spastic tetraplegia Febrile seizures Aciduria Progressive cerebellar ataxia Tetraplegia Neutropenia Metabolic acidosis Scapular winging Delayed gross motor development Unsteady gait Arthralgia Thick eyebrow Bulbous nose Vertigo Nausea and vomiting Pruritus Papule Corneal opacity Prominent nasal bridge Skin rash Developmental regression Abnormality of the nervous system Carcinoma Coarse facial features Mandibular prognathia Nasal speech Posteriorly rotated ears Midface retrusion Edema Firm muscles Abnormal CNS myelination Abdominal wall muscle weakness Diaphragmatic paralysis Pelvic girdle muscle weakness Wolff-Parkinson-White syndrome Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Neurodegeneration Severe global developmental delay Muscle cramps Lower limb spasticity Progressive spastic paraparesis Motor polyneuropathy CNS demyelination Neurogenic bladder Corpus callosum atrophy Hypomimic face Slow saccadic eye movements Urinary bladder sphincter dysfunction Abnormality of the periventricular white matter Amyotrophic lateral sclerosis Reduced tendon reflexes Foot dorsiflexor weakness Skin ulcer Tetraparesis Erectile abnormalities Abnormality of extrapyramidal motor function Bradykinesia Sensory impairment Limitation of joint mobility Distal sensory impairment Abnormal pyramidal sign Cerebral cortical atrophy Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Abnormality of lysosomal metabolism Increased muscle glycogen content Diaphragmatic weakness Abnormality of refraction Abnormal upper motor neuron morphology Decreased urine output Hyperactivity Decreased number of peripheral myelinated nerve fibers Recurrent infections Hyperreflexia Microcephaly Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Sensory ataxia Myelopathy Constrictive median neuropathy Multiple myeloma Increased CSF protein Syringomyelia Amyloidosis Axonal degeneration Abnormality of central motor function Aphasia Malnutrition Cerebral hemorrhage Rheumatoid arthritis Cachexia Vasculitis Migraine Gliosis Facial palsy Hydrocephalus Tremor Cervical spinal cord atrophy Lafora bodies Decreased/absent ankle reflexes Thick vermilion border Chest pain Pes planus Abnormality of temperature regulation Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Vascular tortuosity Nephrogenic diabetes insipidus Limb pain Functional abnormality of the gastrointestinal tract Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Unexplained fevers Impaired renal concentrating ability Chronic pain Short neck Kyphoscoliosis Autism Polydactyly Hypogonadism Myoclonus Pneumonia Alopecia Patent ductus arteriosus Clinodactyly Obesity Kyphosis Abnormality of the dentition Blindness Respiratory distress Strabismus Abnormality of glycosphingolipid metabolism Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormal thrombosis Miosis Sudden cardiac death Purpura Clubbing Heart murmur Glomerulosclerosis Hemiplegia Prominent supraorbital ridges Easy fatigability Tinnitus Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Aminoaciduria Anhidrosis Exercise intolerance Spontaneous abortion Fasciculations Bradycardia Lymphedema Hypohidrosis Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Myocardial infarction Thick lower lip vermilion Mitral valve prolapse Syncope Tricuspid regurgitation Loss of consciousness T-wave inversion Large earlobe Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy Abnormal myocardium morphology Abnormality of femur morphology Sinus bradycardia Achalasia Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Abnormality of the gastrointestinal tract Bundle branch block Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Unilateral renal dysplasia



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