Rod-cone dystrophy, and Vertigo

Diseases related with Rod-cone dystrophy and Vertigo

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Vertigo that can help you solving undiagnosed cases.


Top matches:

High match DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2


DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 Is also known as nsrd2|neurosensory nonsyndromic recessive deafness 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Vertigo
  • Retinal degeneration


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

High match DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15


This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011).

DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 Is also known as deafness, autosomal recessive 72|dfnb72|deafness, autosomal recessive 95|dfnb95

Related symptoms:

  • Hearing impairment
  • Rod-cone dystrophy
  • Vestibular dysfunction
  • Severe hearing impairment


SOURCES: MESH OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15

High match DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11


Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema
  • Rod-cone dystrophy
  • Vertigo


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11

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Other less relevant matches:

High 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

High match SPINOCEREBELLAR ATAXIA 6; SCA6


Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 6; SCA6

High match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

High match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

High match USHER SYNDROME, TYPE ID; USH1D


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see {276900}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Retinopathy
  • Pigmentary retinopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE ID; USH1D

High match USHER SYNDROME, TYPE IJ; USH1J


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Rod-cone dystrophy
  • Progressive hearing impairment


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IJ; USH1J

High 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

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Vertigo

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Vestibular dysfunction Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Peripheral neuropathy Nyctalopia Bilateral sensorineural hearing impairment Fatigue Retinopathy Microcephaly Diabetes mellitus Hypogonadism Pain Retinal degeneration Dysphagia Ophthalmoparesis Seizures External ophthalmoplegia Pigmentary retinopathy Ophthalmoplegia Migraine Cognitive impairment Intellectual disability Depressivity

Rare Symptoms - Less than 30% cases


Hemiplegia/hemiparesis Basal ganglia calcification Adrenal insufficiency Bundle branch block Abnormality of mitochondrial metabolism Progressive external ophthalmoplegia Bilateral ptosis Primary adrenal insufficiency EMG abnormality Atrioventricular block Ragged-red muscle fibers Reduced tendon reflexes Abnormality of retinal pigmentation Left ventricular hypertrophy Ventricular hypertrophy Cerebral calcification Memory impairment Muscle cramps Lactic acidosis Dilated cardiomyopathy Acidosis Hypoparathyroidism Growth delay Mitochondrial myopathy Renal insufficiency Motor delay Progressive hearing impairment Posterior subcapsular cataract Intestinal obstruction Purpura Nephrotic syndrome Nausea Erythema Myalgia Abdominal pain Constipation Headache Diarrhea Heart block Vomiting Fever Hepatomegaly Cataract Failure to thrive Hypertelorism Myoclonus Global developmental delay Renal Fanconi syndrome Muscle fiber atrophy Stroke-like episode Gait imbalance Hypothyroidism Anterior hypopituitarism Dementia Cardiomyopathy Postural instability Sensory neuropathy Gait ataxia Cerebral cortical atrophy Cerebellar atrophy Gait disturbance Dysarthria Abnormal cerebellum morphology Generalized hypotonia Muscle weakness Muscular hypotonia Ptosis Skeletal muscle atrophy Optic atrophy Short stature Myopathy Hyporeflexia Cerebellar hypoplasia Elevated serum creatine phosphokinase Delayed skeletal maturation Proteinuria Retinal dystrophy Congestive heart failure Encephalopathy Arrhythmia Hyponatremia Truncal ataxia Mask-like facies Generalized hirsutism Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Bifid scrotum Aplasia/Hypoplasia of the cerebellum Macular degeneration Episodic quadriplegia Abnormality of acid-base homeostasis Pancreatitis Hypopigmented skin patches Ischemic stroke Hemiplegia Mutism Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Goiter Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Cachexia Decreased nerve conduction velocity Aortic aneurysm Personality changes Hypercalciuria Schizophrenia Involuntary movements Cardiac arrest Peripheral axonal neuropathy Sudden cardiac death Generalized myoclonic seizures Coma Polyneuropathy Nephropathy Hirsutism Polymicrogyria Ichthyosis Increased serum lactate Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Carious teeth Sensory impairment Hip dysplasia Clonus Hypertrichosis Morphological abnormality of the inner ear Cerebral visual impairment Hallucinations Gingival overgrowth Anorexia Decreased body weight Homonymous hemianopia Hemiparesis Specific learning disability Atrial fibrillation Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Generalized-onset seizure Abnormality of the cardiovascular system Amenorrhea Focal segmental glomerulosclerosis Hyperthyroidism Abnormality of neuronal migration Reduced consciousness/confusion Abnormality of the cerebellar vermis Speech apraxia Crohn's disease Hemeralopia Left ventricular failure Seborrheic dermatitis Abnormal macular morphology Retinal pigment epithelial atrophy Spotty hypopigmentation Arthrogryposis multiplex congenita Cerebral ischemia Wolff-Parkinson-White syndrome Paronychia Increased CSF lactate Psychotic episodes Tubulointerstitial abnormality Abnormal mitochondrial morphology Episodic vomiting Spontaneous hematomas Persistence of primary teeth Writer's cramp Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Abnormality of peripheral nerve conduction Hemianopia Ileus Proximal tubulopathy Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Visual hallucinations Tubulointerstitial nephritis Overlapping toe Glomerulopathy Pulmonary embolism Abnormality of immune system physiology Thyroiditis Abnormal cochlea morphology Rhabdomyolysis Leber optic atrophy Progressive sensorineural hearing impairment Distal arthrogryposis Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Aphasia Paralytic ileus Drowsiness Renal tubular dysfunction Xerostomia Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Edema of the dorsum of hands Cochlear malformation Abnormal mitochondrial shape Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Progressive night blindness Cochlear degeneration Hashimoto thyroiditis Atopic dermatitis Congenital cataract Large forehead Lethargy Titubation Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency First degree atrioventricular block Sideroblastic anemia Abnormality of the mitochondrion Low CSF 5-methyltetrahydrofolate Severe lactic acidosis Hypomagnesemia Hyperaldosteronism Increased CSF protein Exocrine pancreatic insufficiency Renal tubular acidosis Progressive intervertebral space narrowing Scoliosis Incoordination Postnatal growth retardation Lymphadenopathy Infertility Papule Cough Skin rash Pallor Arthritis Neoplasm Hepatosplenomegaly Arthralgia Hyperhidrosis Pneumonia Splenomegaly Frontal bossing Flexion contracture Nasal speech Ventricular arrhythmia Sepsis Profound hearing impairment Parkinsonism Progressive cerebellar ataxia Neurodegeneration Abnormality of eye movement Spasticity Albuminuria High myopia Abnormality of extrapyramidal motor function Hematuria Conductive hearing impairment Myopia Tinnitus Edema Severe hearing impairment Abnormality of skin pigmentation Neuronal loss in central nervous system Limb ataxia Leukoencephalopathy Reduced visual acuity Cardiomegaly Growth hormone deficiency Syncope Limb muscle weakness Muscular dystrophy Paralysis Severe short stature Slurred speech Square-wave jerks Abnormal vestibulo-ocular reflex Cerebellar cortical atrophy Vertical nystagmus Impaired smooth pursuit Subarachnoid hemorrhage Gaze-evoked nystagmus Abdominal distention Limitation of joint mobility Generalized tonic-clonic seizures Dystonia Weight loss Osteoporosis Areflexia Visual loss Cerebral atrophy Kyphosis Hypertonia Dyspnea Abnormality of the dentition Respiratory distress Short neck Respiratory insufficiency Ventriculomegaly Tremor Autism Gastroesophageal reflux Hypertension Abnormality of the pinna Pruritus Neurological speech impairment Stroke Attention deficit hyperactivity disorder Abnormality of the liver Protruding ear Developmental regression Jaundice Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Anxiety EEG abnormality Photophobia Hyperreflexia Visual impairment Gastrointestinal hemorrhage Urticaria Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Apathy Conjunctivitis Episodic fever Vasculitis Recurrent pneumonia Long eyelashes Optic disc pallor Eczema Dehydration Aciduria Subcapsular cataract Uveitis Feeding difficulties Erysipelas Anemia Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Porokeratosis Peripheral visual field loss Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Acrocyanosis Poor coordination Prominent ear helix



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