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:

Low match NIEMANN-PICK DISEASE, TYPE C2; NPC2


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

Low match GM1 GANGLIOSIDOSIS TYPE 3


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

Low match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


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

Low match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


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

Low match CARASIL


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

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


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

Low match GALACTOSIALIDOSIS


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

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


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

Low match CADASIL


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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hydrocephalus and Myelodysplasia, related diseases and genetic alterations Low-set ears and Skin rash, related diseases and genetic alterations Peripheral neuropathy and Hyperhidrosis, related diseases and genetic alterations Cleft palate and Alzheimer disease, related diseases and genetic alterations Anemia and Hydronephrosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more