Ataxia, and Rod-cone dystrophy

Diseases related with Ataxia and Rod-cone dystrophy

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


Top matches:

Medium match USHER SYNDROME, TYPE IIIB; USH3B


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

Medium match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Medium match ABETALIPOPROTEINEMIA; ABL


Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

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Other less relevant matches:

Medium match FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY


Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Medium match JOUBERT SYNDROME 5; JBTS5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Medium match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Medium match CLN7 DISEASE


The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CLN7 DISEASE

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

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

Symptoms // Phenotype % cases
Visual impairment Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Nystagmus Seizures Progressive visual loss Generalized hypotonia Abnormal electroretinogram Apraxia Sensorineural hearing impairment Retinopathy Vestibular dysfunction Oculomotor apraxia Hallucinations

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Areflexia Retinal degeneration Hepatic steatosis Steatorrhea Acanthocytosis Fat malabsorption Decreased LDL cholesterol concentration Abetalipoproteinemia Intellectual disability Nevus Decreased liver function Neurodegeneration Tremor Developmental regression Mental deterioration Myoclonus Cerebral atrophy Retinal dystrophy Optic atrophy Cerebellar vermis hypoplasia Delayed speech and language development Molar tooth sign on MRI Malabsorption Hypocholesterolemia Intracellular accumulation of autofluorescent lipopigment storage material Scotoma Reduced visual acuity Broad-based gait Progressive hearing impairment Cataract Peripheral neuropathy Hyporeflexia Anxiety Abnormality of the eye Schizophrenia Depressivity Iris hypopigmentation Hemianopia Pneumonia Multicystic kidney dysplasia EEG abnormality Polyneuropathy Recurrent urinary tract infections Abnormality of the inner ear Mild hearing impairment Abnormality of dental color Subcortical cerebral atrophy Aplasia/Hypoplasia of the cerebellum Abnormal cerebellum morphology Progressive cerebellar ataxia Gaze-evoked nystagmus Rigidity Abnormality of dental enamel Microdontia Difficulty running Slow saccadic eye movements Bronchiolitis Carious teeth Dysarthria Very long chain fatty acid accumulation Cerebral cortical atrophy Myopia Increased extraneuronal autofluorescent lipopigment Abnormal nervous system electrophysiology Mitochondrial encephalopathy Falls Neurological speech impairment Aggressive behavior Loss of speech Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Pes cavus Hydronephrosis Gait ataxia Depressed nasal bridge Low-set ears Ptosis Abnormal facial shape Telecanthus Neonatal hypotonia Vacuolated lymphocytes Vegetative state Postural tremor Anteverted nares Abnormality of extrapyramidal motor function Pigmentary retinopathy Scarring Memory impairment Focal-onset seizure Generalized myoclonic seizures Highly arched eyebrow Sleep disturbance Gait disturbance Joint laxity Dysmetria Unsteady gait Cone/cone-rod dystrophy Central apnea Increased neuronal autofluorescent lipopigment High hypermetropia Growth delay CNS demyelination Cholestatic liver disease Spinocerebellar tract degeneration Abnormality of the coagulation cascade Peripheral demyelination Cirrhosis Abnormality of skin pigmentation Abnormality of the liver Abnormal cochlea morphology Vestibular hypofunction Peripheral visual field loss Visual field defect Vomiting Astigmatism Neoplasm Inappropriate laughter Visual hallucinations Agitation Delayed gross motor development Horizontal nystagmus Truncal ataxia Psychosis Optic disc pallor Pallor Photophobia Myopathy Failure to thrive Diarrhea Retinal thinning Renal cortical cysts Motor deterioration Undetectable electroretinogram Atonic seizures Tetraparesis Neuronal loss in central nervous system Retinal detachment Dementia Encephalopathy Thickened superior cerebellar peduncle Neonatal breathing dysregulation Impaired renal concentrating ability Episodic tachypnea Aplasia/Hypoplasia of the cerebellar vermis Tapetoretinal degeneration Reduced tendon reflexes Agenesis of cerebellar vermis Retinal coloboma Congenital blindness Nephronophthisis Renal cyst Stage 5 chronic kidney disease Abnormality of the kidney Muscular hypotonia Abnormality of blood and blood-forming tissues Malnutrition Impaired vibratory sensation Failure to thrive in infancy Hypoalbuminemia Elevated levels of phytanic acid



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