Cardiomyopathy, and Bilateral sensorineural hearing impairment

Diseases related with Cardiomyopathy and Bilateral sensorineural hearing impairment

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


Top matches:

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Medium match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

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Other less relevant matches:

Medium 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

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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium 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

Low match PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME


Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Nystagmus Optic atrophy Proteinuria Hypertrophic cardiomyopathy Congestive heart failure Global developmental delay Muscle weakness Stroke Anemia Diabetes mellitus Arrhythmia Dysarthria Cataract Ptosis Nephrotic syndrome Progressive sensorineural hearing impairment Vomiting Constipation Gait disturbance Myalgia Pancytopenia Ragged-red muscle fibers Dyspnea Glomerulopathy Hypertension Growth delay Hepatomegaly Motor delay Pain Rod-cone dystrophy Acidosis Visual loss Lactic acidosis Malabsorption Visual impairment Failure to thrive Paresthesia Nephropathy Headache Diarrhea Polyneuropathy Generalized hypotonia Pigmentary retinopathy

Rare Symptoms - Less than 30% cases


Weight loss Aphasia Protruding ear Short stature Polycystic ovaries Congenital cataract Muscular hypotonia Peripheral axonal neuropathy Hallucinations Microcephaly Chronic kidney disease Postural instability Coma Hyperkinesis Ophthalmoparesis Ischemic stroke Basal ganglia calcification Psychomotor deterioration Hypoparathyroidism Exercise intolerance Atrioventricular block Tremor Hemiparesis Left ventricular hypertrophy Fever Peripheral neuropathy Spasticity Focal segmental glomerulosclerosis Prolonged QT interval Muscle cramps Stroke-like episode Status epilepticus Areflexia Specific learning disability Hyporeflexia Dementia Memory impairment Cachexia Migraine Myoclonus Elevated serum creatine phosphokinase Abnormality of the kidney Retinal degeneration Aminoaciduria Gingival overgrowth Hyperreflexia Skeletal muscle atrophy Fatigue Ophthalmoplegia Generalized hirsutism Myopathy Vertigo Respiratory distress Renal tubular dysfunction Amenorrhea Anorexia Cerebellar atrophy Renal Fanconi syndrome Progressive peripheral neuropathy Cardiac arrest Cognitive impairment Type II diabetes mellitus Increased CSF lactate Encephalopathy Scoliosis Hirsutism Gastroesophageal reflux Hypogonadism Abnormal heart morphology Developmental regression Left bundle branch block Lethargy Hypertrichosis Cerebral atrophy Vestibular dysfunction Bundle branch block Abnormal pyramidal sign Hyperglycemia Aplasia/Hypoplasia of the cerebellum Aciduria External ophthalmoplegia Abnormal facial shape Growth abnormality Generalized myoclonic seizures Abnormal cerebellum morphology Abnormality of retinal pigmentation Sudden cardiac death Cerebral visual impairment Sensory impairment Increased serum lactate Decreased body weight Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Pulmonary arterial hypertension Psychosis Ventricular hypertrophy Atrial fibrillation Polymicrogyria Involuntary movements Hip dysplasia Autism Nausea Dysphagia Cerebellar hypoplasia Delayed skeletal maturation Depressivity Kyphosis Dystonia Hypertonia Abnormality of the dentition Blindness Short neck Respiratory insufficiency Ventriculomegaly Feeding difficulties Abdominal pain Hypertelorism Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Osteoporosis Cerebral cortical atrophy Ichthyosis Attention deficit hyperactivity disorder Confusion Dysmetria Anal atresia Delayed puberty Nausea and vomiting Carious teeth Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Nyctalopia Gait ataxia Abnormality of the liver Erythema Abnormality of the pinna Feeding difficulties in infancy Mental deterioration Apnea Anxiety EEG abnormality Photophobia Jaundice Hypothyroidism Truncal ataxia Clonus Pulmonary embolism EMG abnormality Hemianopia Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Auditory hallucinations Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Amaurosis fugax Abnormal nerve conduction velocity Tubulointerstitial nephritis Abnormal mitochondrial shape Chest pain 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 Cochlear degeneration Tubulointerstitial abnormality Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Visual hallucinations Aortic dissection Hypogonadotrophic hypogonadism Bilateral ptosis Abnormality of neuronal migration Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Adrenal insufficiency Decreased nerve conduction velocity Easy fatigability Goiter Schizophrenia Mutism Hypopigmented skin patches Reduced tendon reflexes Pancreatitis Macular degeneration Purpura Type I diabetes mellitus Overlapping toe Dysphasia Facial diplegia Hashimoto thyroiditis Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Atopic dermatitis Hyperkalemia Drowsiness Distal arthrogryposis Colpocephaly Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Vertebral fusion Multiple lipomas Visual field defect Long penis Steroid-resistant nephrotic syndrome Thin bony cortex Gliosis Paraparesis Abnormal autonomic nervous system physiology Vasculitis Cardiomegaly Peripheral demyelination Neuronal loss in central nervous system Hypotension Urinary incontinence Paraplegia Rheumatoid arthritis Facial palsy Arthritis Hydrocephalus Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Spastic paraparesis Cerebral hemorrhage Pseudopapilledema Myelopathy Ventricular septal defect Cryptorchidism Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Impotence Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Malnutrition Septate vagina Proximal renal tubular acidosis Thrombocytopenia Diffuse hepatic steatosis Retinal atrophy Abnormal retinal morphology Macular dystrophy Constriction of peripheral visual field Unsteady gait Retinopathy Skeletal muscle steatosis Fatigable weakness of swallowing muscles Progressive leukoencephalopathy Abnormal chorioretinal morphology Hyperphosphaturia Excessive daytime somnolence Glycosuria Exertional dyspnea Respiratory insufficiency due to muscle weakness Spastic tetraparesis Decreased liver function Generalized muscle weakness Delayed speech and language development Abnormality of lipid metabolism Cleft palate Distal renal tubular acidosis Psoriasiform dermatitis Uterus didelphys Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Vaginal atresia Tetany Severe postnatal growth retardation Renal tubular acidosis Unilateral renal agenesis Polycystic kidney dysplasia Hydronephrosis Abnormality of the urinary system Nephrocalcinosis Multicystic kidney dysplasia Hypocalcemia Horizontal nystagmus Renal dysplasia Ectodermal dysplasia Vesicoureteral reflux Hematuria Atrial septal defect Hypoglycemia Dystrophic fingernails Polyhydramnios Joint hypermobility Synophrys Broad forehead Wide mouth Hepatosplenomegaly Umbilical hernia Coarse facial features Macrotia Mandibular prognathia Thick eyebrow Polydactyly Posteriorly rotated ears Patent ductus arteriosus Hernia Dilatation Splenomegaly Intellectual disability, severe Abnormality of the skeletal system Downslanted palpebral fissures Bulbous nose Short distal phalanx of finger Myopia Accelerated skeletal maturation Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Metaphyseal widening Hemangioma Spina bifida occulta Intellectual disability, progressive Thick vermilion border Hemivertebrae Thickened skin Nephrolithiasis Thick lower lip vermilion Small nail Intellectual disability, profound Overgrowth Macroglossia Delayed eruption of teeth Macrocephaly Wide nasal bridge Pallor Megaloblastic anemia Muscular hypotonia of the trunk Respiratory failure Intellectual disability, mild Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Macrocytic anemia Hepatic failure Secondary amenorrhea Myelodysplasia Cone/cone-rod dystrophy Hoarse voice Situs inversus totalis Abnormality of the skin Neutropenia Retinal dystrophy Abnormal cardiac septum morphology Joint hyperflexibility Metabolic acidosis Brachydactyly Myoglobinuria High palate Strabismus Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Scanning speech Tubular atrophy Generalized amyotrophy Progressive cerebellar ataxia Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Hypergonadotropic hypogonadism Progressive muscle weakness Progressive neurologic deterioration Apraxia Syncope



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