Hearing impairment, and Left ventricular hypertrophy

Diseases related with Hearing impairment and Left ventricular hypertrophy

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

Top matches:

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

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

Other less relevant matches:

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.

FAMILIAL HYPERALDOSTERONISM TYPE III Is also known as fh3|fh iii|familial hyperaldosteronism type 3|fh-iii

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Headache
  • Nausea
  • Hirsutism


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERALDOSTERONISM TYPE III

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked|hpdr|hhrh|hyp|xlh|hypophosphatemic vitamin d-resistant rickets|vitamin d-resistant rickets, x-linked

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Top 5 symptoms//phenotypes associated to Hearing impairment and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Ventricular hypertrophy Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ragged-red muscle fibers Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Seizures Failure to thrive Muscle weakness Headache Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Tinnitus Ankylosis Diabetes mellitus Hyperaldosteronism Metabolic alkalosis Polydipsia Dyspnea Alkalosis Rickets Hypophosphatemia Hypophosphatemic rickets Epistaxis Depressivity Intracranial hemorrhage Growth delay Primary hyperaldosteronism Dexamethasone-suppresible primary hyperaldosteronism Hypokalemia Hypercalciuria Nausea Decreased circulating renin level Abnormal circulating renin Adrenal hyperplasia Nephrolithiasis Myocardial infarction Coronary artery atherosclerosis Elevated alkaline phosphatase Nephrocalcinosis Bone pain Osteoarthritis Ventricular septal defect Cardiomyopathy Pain Neoplasm Increased serum lactate Prolonged QT interval Increased CSF lactate Severe global developmental delay Visual impairment Dandy-Walker malformation Ptosis Cognitive impairment Small nail Cataract Severe failure to thrive Peripheral neuropathy Dysarthria Delayed myelination Short chin Skeletal muscle atrophy Bifid uvula Macroglossia Thin vermilion border Ataxia EMG: impaired neuromuscular transmission Lissencephaly Generalized-onset seizure Skull asymmetry Intellectual disability Protruding tongue Cutis marmorata Spasticity Intellectual disability, severe Failure to thrive in infancy Blindness Spastic paraplegia Generalized tonic-clonic seizures Tetraplegia Spastic tetraplegia Periorbital fullness Pulmonary arterial hypertension Cerebral visual impairment Cerebral palsy Atrioventricular block Patent foramen ovale Focal impaired awareness seizure Athetosis Biventricular hypertrophy Caesarian section Second degree atrioventricular block Uterine rupture Focal myoclonic seizures Abnormality of the nervous system Arrhythmia Tremor Apathy Status epilepticus Progressive muscle weakness Diplopia Bradycardia Exercise intolerance External ophthalmoplegia Progressive hearing impairment EMG: myopathic abnormalities Mutism Dysphonia Bilateral ptosis Premature ovarian insufficiency Ophthalmoparesis Amenorrhea Ventricular fibrillation Sensory axonal neuropathy Abnormality of the thyroid gland Resting tremor Insomnia Bipolar affective disorder Progressive external ophthalmoplegia Mitochondrial myopathy Limb-girdle muscle weakness Sensory ataxia Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Bradykinesia Memory impairment Gait disturbance Hypothyroidism Fatigue Dysphagia Respiratory insufficiency Myopathy Cerebral atrophy Umbilical hernia Areflexia Hyporeflexia Elevated serum creatine phosphokinase Dementia Hypogonadism Cerebral cortical atrophy Rigidity Migraine Proximal muscle weakness Myalgia Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Paresthesia Sensory neuropathy Muscle cramps Generalized muscle weakness Parkinsonism Gliosis Brain atrophy Wide mouth Flattening of the talar dome Coarse facial features Conductive hearing impairment Abnormal renal physiology Tubulointerstitial fibrosis Peripheral edema Abnormal mitochondrial morphology Abnormal mitochondrial shape Global glomerulosclerosis Abnormal mitochondrial number Respiratory distress Congestive heart failure Pneumonia Papule Glomerulopathy Genu valgum Cyanosis Growth abnormality Glomerulosclerosis Pericardial effusion Endocardial fibroelastosis Arterial stenosis Otosclerosis Arteriosclerosis Angioid streaks of the fundus Coronary artery stenosis Tubular atrophy Focal segmental glomerulosclerosis Arterial calcification Abnormality of the liver Chest pain Syncope Left bundle branch block Recurrent fractures Generalized hypotonia Feeding difficulties Respiratory failure Acidosis Gastroesophageal reflux Elevated hepatic transaminase Lactic acidosis Pleural effusion Polymicrogyria Decreased liver function Hyperalaninemia Anemia Hepatomegaly Renal insufficiency Proteinuria Abnormality of the kidney Nephropathy Hematuria Cardiomegaly Vascular calcification Generalized arterial calcification Retrognathia Brachydactyly Hypomineralization of enamel Polyostotic fibrous dysplasia Pseudo-fractures Trapezoidal distal femoral condyles Shortening of the talar neck Tertiary hyperparathyroidism Microcephaly Abnormal facial shape Cleft palate Cryptorchidism Wide nasal bridge Hypocalciuria Intrauterine growth retardation Anteverted nares Short neck Hypoplasia of the corpus callosum Hydrocephalus Hypertonia Long philtrum Absent speech Hernia Obesity Patent ductus arteriosus Fibular bowing Renal phosphate wasting Coronary artery calcification Hypercalcemia Periarticular calcification Hirsutism Metabolic acidosis Polyuria Glucocortocoid-insensitive primary hyperaldosteronism Frontal bossing Abnormality of the skeletal system Abnormality of the dentition Arthralgia Hypocalcemia Abnormality of pelvic girdle bone morphology Metaphyseal irregularity Tetany Bowing of the legs Femoral bowing Tibial bowing Hyperparathyroidism Glycosuria Osteomalacia Spinal canal stenosis Spinal cord compression Renal tubular dysfunction Hyperphosphatemia Elevated circulating parathyroid hormone level Subsarcolemmal accumulations of abnormally shaped mitochondria


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