Hearing impairment, and Atrial fibrillation

Diseases related with Hearing impairment and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Hearing impairment and Atrial fibrillation that can help you solving undiagnosed cases.

Top matches:

Low match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Other less relevant matches:

Low 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

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).A form of torsade de pointes in which the first beat has a short coupling interval has been described (OMIM ). Genetic Heterogeneity of Long QT SyndromeThere are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (OMIM ) is caused by mutation in the KCNH2 gene (OMIM ), LQT3 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ), LQT4 (see {600919}) is caused by mutation in the ANK2 gene (OMIM ), LQT5 is caused by mutation in the KCNE1 gene (OMIM ), LQT6 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ), LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}) is caused by mutation in the KCNJ2 gene (OMIM ), LQT8 (Timothy syndrome; {601005}) is caused by mutation in the CACNA1C gene (OMIM ), LQT9 (OMIM ) is caused by mutation in the CAV3 gene (OMIM ), LQT10 (OMIM ) is caused by mutation in the SCN4B gene (OMIM ), LQT11 (OMIM ) is caused by mutation in the AKAP9 gene (OMIM ), LQT12 (OMIM ) is caused by mutation in the SNTA1 gene (OMIM ), LQT13 (OMIM ) is caused by mutation in the KCNJ5 gene (OMIM ), LQT14 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ), and LQT15 (OMIM ) is caused by mutation in the CALM2 gene (OMIM ).Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).

LONG QT SYNDROME 1; LQT1 Is also known as romano-ward syndrome|ventricular fibrillation with prolonged qt interval|rws|wrs|ward-romano syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Depressivity
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 1; LQT1

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Cardiomyopathy
  • Abnormal heart morphology
  • Tachycardia
  • Atrial fibrillation
  • Supraventricular tachycardia


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15

Top 5 symptoms//phenotypes associated to Hearing impairment and Atrial fibrillation

Symptoms // Phenotype % cases
Depressivity Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Palpitations Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Left ventricular hypertrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Atrial fibrillation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Fatigue Ventricular arrhythmia Dysphagia Sensorineural hearing impairment Seizures Tachycardia Ptosis Cerebellar atrophy Dysarthria Optic atrophy Gait disturbance Pain Muscle weakness Ataxia Visual impairment Myalgia Congestive heart failure Anxiety Easy fatigability Hypothyroidism Diabetes mellitus Constipation Gait ataxia Hypertrophic cardiomyopathy Respiratory insufficiency Dilated cardiomyopathy Cognitive impairment Cataract Vertigo Peripheral axonal neuropathy Ventricular hypertrophy Exercise intolerance Muscle cramps Renal insufficiency Sudden cardiac death

Rare Symptoms - Less than 30% cases

Dyspnea Hypertonia Transient ischemic attack Skeletal muscle atrophy Tremor Xerostomia Glomerulopathy Edema Progressive sensorineural hearing impairment Myopathy Hyporeflexia Failure to thrive Elevated serum creatine phosphokinase Bundle branch block Personality changes Osteoporosis Hemiplegia Hypogonadism Chronic kidney disease Acidosis Atrioventricular block Renal tubular dysfunction Intellectual disability Tubulointerstitial nephritis Abnormal EKG Prolonged QT interval Cachexia Cardiac arrest Impaired vibratory sensation Sensory axonal neuropathy Postural instability Glucose intolerance Dysesthesia Visual field defect Abnormality of visual evoked potentials Ischemic stroke Heart block Ketosis Myocardial fibrosis Gait imbalance Asymmetric septal hypertrophy T-wave inversion Abnormality of cardiovascular system physiology Concentric hypertrophic cardiomyopathy Abnormality of the renal tubule Supraventricular tachycardia Gastroesophageal reflux Ventricular tachycardia Abdominal pain Mitochondrial myopathy External ophthalmoplegia Ragged-red muscle fibers Goiter Proteinuria Abnormality of mitochondrial metabolism Ophthalmoparesis Rhabdomyolysis Hyperthyroidism Progressive external ophthalmoplegia Facial diplegia Cerebral visual impairment Reduced ejection fraction Gastroparesis Short stature Anemia Hypertension Fever Vomiting Diarrhea Headache Developmental regression Pigmentary retinopathy Purpura Paresthesia Bradycardia Anorexia Nephrotic syndrome Abnormality of the liver Lethargy Abnormality of the cardiovascular system Syncope Nephropathy Nausea Delayed puberty Amenorrhea Ophthalmoplegia Malabsorption Pruritus Congenital cataract Stroke Lactic acidosis Coma Truncal ataxia Migraine Increased serum lactate Reduced tendon reflexes Nausea and vomiting Abnormality of eye movement Dysmetria Sensory neuropathy Abnormal cerebellum morphology Nystagmus Respiratory distress Dystonia Chest pain Sensory impairment Paralysis Kyphosis Abnormality of the pinna Cochlear malformation Visual loss Pes cavus Areflexia Limb muscle weakness Cerebral cortical atrophy Involuntary movements Bilateral sensorineural hearing impairment Abnormality of the kidney Facial palsy Abnormality of the ear Epileptic spasms Torsade de pointes Ventricular fibrillation Periodic paralysis Atrial arrhythmia Abnormal T-wave Cleft palate Cornea verticillata High palate Acroparesthesia Myopia Abnormal ST segment Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Polymorphic ventricular tachycardia Abnormal common carotid artery morphology Increased glomerular filtration rate Increased carotid artery intimal medial thickness Prolonged QTc interval Hypertelorism T-wave alternans Delayed skeletal maturation Erythema Protruding ear Feeding difficulties in infancy Mental deterioration Apnea EEG abnormality Photophobia Jaundice Autism Weight loss Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Encephalopathy Atrioventricular dissociation Cerebral atrophy Abnormality of the dentition Blindness Short neck Ventriculomegaly Hyperreflexia Hepatomegaly Motor delay Feeding difficulties Muscular hypotonia Tenesmus Growth delay Microcephaly Global developmental delay Heavy proteinuria Insulin resistance Left ventricular septal hypertrophy Periorbital fullness Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Hydrocephalus Abnormal cornea morphology Microphthalmia Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis Abnormal aortic valve morphology Gastrointestinal dysmotility Abnormal mitral valve morphology Biventricular hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Heat intolerance Primary hypothyroidism Abnormal endocardium morphology Tortuosity of conjunctival vessels Shortened QT interval Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Attention deficit hyperactivity disorder Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Hyposthenuria Decreased female libido Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Nyctalopia Polyneuropathy Neurological speech impairment Anterior hypopituitarism Psychomotor deterioration Motor polyneuropathy Episodic vomiting Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Reduced consciousness/confusion Writer's cramp Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Aortic dissection Cardiorespiratory arrest Delusions Posterior subcapsular cataract Hypoparathyroidism Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Atopic dermatitis Muscle fiber atrophy Persistence of primary teeth Distal arthrogryposis Edema of the dorsum of hands Abnormal heart morphology Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Abnormal mitochondrial morphology Leber optic atrophy Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Drowsiness Pulmonary embolism Generalized tonic-clonic seizures Type II diabetes mellitus Generalized hirsutism EMG abnormality Clonus Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Psychosis Status epilepticus Pulmonary arterial hypertension Generalized-onset seizure Type I diabetes mellitus Cerebral calcification Specific learning disability Hip dysplasia Memory impairment Generalized myoclonic seizures Large earlobe Hirsutism Polymicrogyria Ichthyosis Confusion Anal atresia Carious teeth Arthrogryposis multiplex congenita Hypogonadotrophic hypogonadism Macular degeneration Primary adrenal insufficiency Hemiplegia/hemiparesis Abnormality of immune system physiology Thyroiditis Basal ganglia calcification Vertebral fusion Multiple lipomas Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Pancreatitis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Aortic aneurysm Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Growth abnormality Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Retrognathia Wheezing Oligospermia Talipes equinovarus Primary amenorrhea Abnormality of extrapyramidal motor function Bradykinesia Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Cholesteatoma Parkinsonism Enlarged cochlear aqueduct Gustatory lacrimation Scoliosis Spasticity Retinopathy Progressive muscle weakness Proximal muscle weakness Elevated hepatic transaminase Rigidity Babinski sign Hyperactivity Reduced visual acuity Kyphoscoliosis Pes planus Difficulty walking Pallor Abnormal pyramidal sign Abnormality of the foot Frequent falls Abnormality of the cerebrum Lower limb muscle weakness Resting tremor Absent Achilles reflex Body odor Shoulder girdle muscle weakness Hypomimic face Branchial cyst Arteria lusoria Branchial fistula Bipolar affective disorder Gonadal dysgenesis Renal malrotation Secondary amenorrhea Exertional dyspnea Hypokinesia Sensorimotor neuropathy Difficulty climbing stairs Increased variability in muscle fiber diameter Hypoplasia of the cochlea Renal steatosis Premature ovarian insufficiency Dysphonia Bilateral renal dysplasia Unilateral renal hypoplasia EMG: myopathic abnormalities Euthyroid goiter Lacrimal duct aplasia Abnormality of the renal collecting system Hypergonadotropic hypogonadism Abnormality of movement Generalized hypotonia Abnormality of the mitochondrion Optic neuropathy Neurodegeneration Impaired proprioception Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Progressive cerebellar ataxia Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Chorea Peripheral demyelination Thoracic scoliosis Hyperactive deep tendon reflexes Poor fine motor coordination Optic disc pallor Intention tremor Decreased motor nerve conduction velocity Clumsiness Hammertoe Dysdiadochokinesis Lower limb spasticity Incoordination Slurred speech Limb ataxia Spastic gait Spastic paraparesis Paraparesis Subvalvular aortic stenosis Abnormal echocardiogram Unsteady gait Decreased amplitude of sensory action potentials Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Hemifacial hypertrophy Lower limb amyotrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Falls Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Inability to walk Positive Romberg sign Skeletal myopathy Testicular atrophy Abnormality of the gastrointestinal tract Hyperlipidemia Abnormality of the hand Prominent supraorbital ridges Pulmonary hypoplasia Bifid uvula Tinnitus Reduced bone mineral density Vesicoureteral reflux Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Intestinal malrotation Renal agenesis Glomerulosclerosis Aminoaciduria Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Microdontia Lymphedema Hypohidrosis Oligohydramnios Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Myocardial infarction Thick lower lip vermilion Flat face Polydipsia Renal hypoplasia Celiac disease Tubular atrophy Elevated serum creatinine Conductive hearing impairment Edema of the lower limbs Hydronephrosis Abnormality of lipid metabolism Aortic root aneurysm Muscle stiffness Renal tubular acidosis Glycosuria Abnormal heart valve morphology Telangiectasia of the skin Orthostatic hypotension Long face Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Microtia Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Clubbing Heart murmur Mitral valve prolapse Hypotension Parkinsonism with favorable response to dopaminergic medication Overbite Hyperkeratosis Mixed hearing impairment Hyperhidrosis Posteriorly rotated ears Midface retrusion Dilatation External ear malformation Behavioral abnormality Stenosis of the external auditory canal Lacrimation abnormality Ureteropelvic junction obstruction Lacrimal duct stenosis Bilateral renal agenesis Mandibular prognathia Focal white matter lesions Quadriceps muscle weakness Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Acute rhabdomyolysis Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Abnormality of the middle ear ossicles Cogwheel rigidity Premature graying of hair Arthralgia Urinary incontinence Atresia of the external auditory canal Renal dysplasia Preauricular skin tag Abdominal distention Narrow face Hematuria Thick vermilion border Thick eyebrow Bulbous nose Congenital hip dislocation Stage 5 chronic kidney disease Multicystic kidney dysplasia Renal hypoplasia/aplasia Polycystic kidney dysplasia Coarse facial features Abnormality of the cerebral white matter Cupped ear Papule Corneal opacity Prominent nasal bridge Cough Epiphora Skin rash Preauricular pit Abnormality of the nervous system Ectopic kidney Arthritis Carcinoma Atrial flutter


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