Sensorineural hearing impairment, and Cognitive impairment

Diseases related with Sensorineural hearing impairment and Cognitive impairment

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


Top matches:

Low match HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME


High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2


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. 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 mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis
  • Dementia


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

Low match SPINOCEREBELLAR ATAXIA TYPE 37


Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.

SPINOCEREBELLAR ATAXIA TYPE 37 Is also known as sca37|spinocerebellar ataxia with altered vertical eye movements

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 37

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Other less relevant matches:

Low match JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME


JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

Low match VOGT-KOYANAGI-HARADA DISEASE


Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Low match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Low match HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS


Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Cognitive impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Cognitive impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Muscle weakness Seizures Dementia Areflexia

Rare Symptoms - Less than 30% cases


Global developmental delay Dysarthria Progressive external ophthalmoplegia Tremor Sensorimotor neuropathy Abnormality of eye movement Dysphagia Cerebellar atrophy Gait ataxia Sensory impairment Sensory ataxia Hyporeflexia Short stature Cerebral atrophy Kyphosis Scoliosis Babinski sign Bilateral sensorineural hearing impairment External ophthalmoplegia Ragged-red muscle fibers Distal sensory impairment Sensory neuropathy Ophthalmoplegia Ptosis Myopathy Nonprogressive encephalopathy Fatigue Horizontal supranuclear gaze palsy Facial myokymia Progressive ophthalmoplegia Cerebral cortical atrophy Focal white matter lesions Rigidity Saccadic smooth pursuit Myokymia Doll-like facies Dystonia Abnormal CNS myelination Abnormal myelination Athetosis Cerebral calcification Poor speech Microcephaly Abnormality of the cerebral white matter Spasticity Severe global developmental delay Delayed speech and language development Motor delay Ventriculomegaly Encephalopathy Leukoencephalopathy Pain Proximal muscle weakness Neurofibrillary tangles Personality changes Impulsivity Osteomyelitis Global brain atrophy Severe hearing impairment Decreased number of peripheral myelinated nerve fibers Axonal loss Onion bulb formation Progressive hearing impairment Delusions Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Delirium Cataplexy Apathy Abnormal autonomic nervous system physiology Parkinsonism Pendular nystagmus Abnormality of mitochondrial metabolism Akinesia Amyotrophic lateral sclerosis Bulbar palsy Frontotemporal dementia Pseudobulbar signs Frontal lobe dementia Hyperhidrosis Hallucinations Mental deterioration Irritability Paresthesia Neurodegeneration Gliosis Memory impairment Neuronal loss in central nervous system Hypoplasia of the pons Elevated serum creatine phosphokinase Thoracolumbar scoliosis Cytochrome C oxidase-negative muscle fibers Cogwheel rigidity Cerebellar vermis atrophy Dysdiadochokinesis Horizontal nystagmus Truncal ataxia Frequent falls Clumsiness Falls Unsteady gait Dysmetria Neurological speech impairment Myoclonus Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Hyperthyroidism Diffuse cerebellar atrophy High myopia Myopia Rod-cone dystrophy Conductive hearing impairment Proteinuria Vertigo Hematuria Profound hearing impairment Goiter Albuminuria Facial palsy Generalized muscle weakness Increased serum lactate Exercise intolerance EMG: myopathic abnormalities Scanning speech Limb dysmetria Congenital nystagmus Hammertoe Poliosis Skeletal muscle atrophy Pes cavus Distal muscle weakness Sleep disturbance Decreased nerve conduction velocity Sensory axonal neuropathy Vitiligo Impaired pain sensation Motor axonal neuropathy Flexion contracture Short neck Cerebellar hypoplasia Paralysis Abnormal eyebrow morphology Abnormal eyelash morphology Abnormal conjugate eye movement Areflexia of lower limbs Intellectual disability, mild Diabetes mellitus Decreased body weight Type I diabetes mellitus Atrophy/Degeneration affecting the brainstem Demyelinating peripheral neuropathy Atrophy of the spinal cord Premature graying of hair Cataract Visual impairment Glaucoma Retinal detachment Sparse scalp hair Hypopigmented skin patches Narcolepsy



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