Ataxia, and Atherosclerosis
Diseases related with Ataxia and Atherosclerosis
In the following list you will find some of the most common rare diseases related to Ataxia and Atherosclerosis that can help you solving undiagnosed cases.
Top matches:
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES:
OMIM
MESH
MENDELIAN
More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Ataxia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about GM1 GANGLIOSIDOSIS TYPE 3
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY
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Other less relevant matches:
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.
HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
ORPHANET
MENDELIAN
More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Related symptoms:
- Ataxia
- Nystagmus
- Pain
- Spasticity
- Cognitive impairment
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about CARASIL
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.
NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Ataxia
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about GALACTOSIALIDOSIS
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
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.
CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia
Related symptoms:
- Seizures
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Muscle weakness
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about CADASIL
Top 5 symptoms//phenotypes associated to Ataxia and Atherosclerosis
Symptoms // Phenotype |
% cases |
Spasticity |
Common - Between 50% and 80% cases
|
Dysarthria |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Mental deterioration |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Ataxia and Atherosclerosis. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Global developmental delay
Uncommon Symptoms - Between 30% and 50% cases
Dysphagia
Common Symptoms - More than 50% cases
Cognitive impairment
Uncommon Symptoms - Between 30% and 50% cases
Gait disturbance
Hearing impairment
Tremor
Short stature
Dementia
Neurodegeneration
Visceromegaly
Hyperreflexia
Progressive neurologic deterioration
Foam cells
Peripheral neuropathy
Dystonia
Pain
Diplopia
Intention tremor
Delayed speech and language development
Myoclonus
Rigidity
Peripheral demyelination
Urinary incontinence
Abnormality of extrapyramidal motor function
Abnormal pyramidal sign
Tetraparesis
Dysmetria
Behavioral abnormality
Cerebral cortical atrophy
Babinski sign
Sensorineural hearing impairment
Nystagmus
Stroke
Abnormality of the nervous system
Muscle weakness
Generalized hypotonia
Ophthalmoplegia
Encephalopathy
Memory impairment
Apathy
Hepatosplenomegaly
Loss of speech
Bradykinesia
Athetosis
Psychosis
Rare Symptoms - Less than 30% cases
Myocardial infarction
Visual loss
Inability to walk
Visual impairment
Migraine
Coronary artery atherosclerosis
Limb muscle weakness
Coma
Paresthesia
Severe global developmental delay
Attention deficit hyperactivity disorder
Myopathy
Depressivity
Lower limb muscle weakness
Proximal muscle weakness
Optic atrophy
Hypogonadism
Hemiparesis
Diffuse leukoencephalopathy
Leukoencephalopathy
Sensory neuropathy
Brain atrophy
Elevated serum creatine phosphokinase
Stroke-like episode
Arteriosclerosis
Pseudobulbar paralysis
Growth delay
Dysphonia
Confusion
Skin rash
Anemia
Thrombocytopenia
Developmental regression
Generalized tonic-clonic seizures
Ascites
Tetraplegia
Hypertension
Abnormality of the cerebral white matter
Cerebral atrophy
Splenomegaly
Perseveration
Slurred speech
Vertical supranuclear gaze palsy
Opacification of the corneal stroma
Cataplexy
Bone-marrow foam cells
Paralysis
Chorea
Fetal ascites
Sea-blue histiocytosis
Respiratory insufficiency
Neurofibrillary tangles
Foam cells in visceral organs and CNS
Abnormal cholesterol homeostasis
Low cholesterol esterification rates
Scoliosis
Parkinsonism
Skeletal muscle atrophy
Hepatomegaly
Muscular hypotonia
Hypertonia
Intellectual disability, mild
Supranuclear gaze palsy
Spastic tetraparesis
Hypoplasia of the corpus callosum
Decreased beta-galactosidase activity
Angiokeratoma
Prolonged neonatal jaundice
Microcephaly
Aphasia
Abnormality of the kidney
Diabetes mellitus
Hypothyroidism
Myalgia
Cardiomegaly
Stereotypy
Muscle cramps
Corneal opacity
Conjunctival telangiectasia
Generalized muscle weakness
Arthralgia
Gliosis
Coarse facial features
Skeletal dysplasia
Severe short stature
Increased serum lactate
Amenorrhea
Ventricular hypertrophy
Respiratory failure
Hyporeflexia
Vacuolated lymphocytes
Left ventricular hypertrophy
Mucopolysacchariduria
Hemophagocytosis
Arthralgia of the hip
Nonimmune hydrops fetalis
Cherry red spot of the macula
Cataract
Ptosis
Abnormal lung morphology
Dysostosis multiplex
Abnormality of the vertebral column
Areflexia
Spondyloepiphyseal dysplasia
Hemangioma
Fatigue
Cardiomyopathy
Aortic regurgitation
Dyskinesia
Abnormal vertebral morphology
Arrhythmia
Hydrops fetalis
Telangiectasia
Status epilepticus
Progressive hearing impairment
Progressive muscle weakness
Abnormality of visual evoked potentials
Truncal ataxia
Recurrent pneumonia
Shock
Cranial nerve paralysis
Abnormal electroretinogram
Hemiplegia
Personality changes
Cerebral hemorrhage
Scotoma
Bulbar palsy
Amyloidosis
Impaired pain sensation
Optic neuropathy
Transient ischemic attack
Nausea
Varicose veins
Cerebral ischemia
Migraine with aura
Abnormality of nervous system morphology
Mania
Subcutaneous hemorrhage
Amaurosis fugax
Focal sensory seizure
Retinal arteriolar tortuosity
Subcortical dementia
Abulia
Recurrent subcortical infarcts
Nonarteritic anterior ischemic optic neuropathy
Scintillating scotoma
Abnormality of the skin
Vertigo
Bradycardia
Bipolar affective disorder
Exercise intolerance
External ophthalmoplegia
Oral-pharyngeal dysphagia
Ragged-red muscle fibers
EMG: myopathic abnormalities
Mutism
Bilateral ptosis
Premature ovarian insufficiency
Ophthalmoparesis
Ventricular fibrillation
Sensory axonal neuropathy
Abnormality of the thyroid gland
Resting tremor
Insomnia
Progressive external ophthalmoplegia
Abnormality of eye movement
Mitochondrial myopathy
Limb-girdle muscle weakness
Sensory ataxia
Cytochrome C oxidase-negative muscle fibers
Multiple mitochondrial DNA deletions
Subsarcolemmal accumulations of abnormally shaped mitochondria
Fever
Vomiting
Headache
EEG abnormality
Hypoglycemia
Facial palsy
Abnormality of the eye
Pallor
Inguinal hernia
Clumsiness
Hernia
Drooling
Generalized amyotrophy
Gait ataxia
Delayed puberty
Abnormality of the face
Delayed eruption of teeth
Hypodontia
Abnormal cerebellum morphology
Progressive cerebellar ataxia
Focal-onset seizure
High myopia
Leukodystrophy
Hypogonadotrophic hypogonadism
Oligodontia
Cerebellar atrophy
CNS hypomyelination
Reduced number of teeth
Dysdiadochokinesis
Focal impaired awareness seizure
Postural tremor
Natal tooth
Motor deterioration
Hypometric saccades
Abnormal upper motor neuron morphology
Hydrocephalus
Retinopathy
Dry skin
Abnormality of the dentition
Ventriculomegaly
Cutaneous photosensitivity
Paraparesis
Hyperactivity
Failure to thrive
Apnea
Anterior beaking of lumbar vertebrae
Lethargy
Hypoplastic acetabulae
Stuttering
Waddling gait
Epileptic encephalopathy
Hypsarrhythmia
Facial grimacing
Hallucinations
Incoordination
Progressive spasticity
Poor suck
Flared iliac wings
Thromboembolism
Delusions
Homocystinuria
Hyperhomocystinemia
Diffuse cerebral atrophy
Generalized dystonia
Hyperactive deep tendon reflexes
Motor delay
Abnormality of blood and blood-forming tissues
Myopia
Platyspondyly
Pes cavus
Edema
Mitral valve prolapse
Pneumonia
Jaundice
Neonatal hypotonia
Neurological speech impairment
Abnormality of movement
Retinal degeneration
Cirrhosis
Bruising susceptibility
Sleep disturbance
Interstitial pulmonary abnormality
Neuronal loss in central nervous system
Oligohydramnios
Spastic tetraplegia
Arteriosclerosis of small cerebral arteries
Intellectual disability, profound
Intellectual disability, severe
Schizophrenia
Trismus
Head tremor
Spastic dysarthria
Aplasia/Hypoplasia of the abdominal wall musculature
Supranuclear ophthalmoplegia
Rapid neurologic deterioration
Congenital thrombocytopenia
Fatal liver failure in infancy
Depressed nasal bridge
Intrauterine growth retardation
Diffuse demyelination of the cerebral white matter
Melanoma
Osteoporosis
Cachexia
Dermal atrophy
Urticaria
Basal cell carcinoma
Prematurely aged appearance
Poikiloderma
Demyelinating peripheral neuropathy
Kyphosis
Squamous cell carcinoma of the skin
Abnormality of amino acid metabolism
Numerous pigmented freckles
Alopecia
Sparse hair
Pseudobulbar signs
Unsteady gait
Spastic gait
Back pain
Motor aphasia
Emotional lability
Urinary urgency
Gaze-evoked nystagmus
Progressive encephalopathy
Spastic ataxia
Low back pain
Diffuse white matter abnormalities
Knee pain
Subdural hemorrhage
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