Tremor, and Hypercholesterolemia

Diseases related with Tremor and Hypercholesterolemia

In the following list you will find some of the most common rare diseases related to Tremor and Hypercholesterolemia that can help you solving undiagnosed cases.


Top matches:

Medium match ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH


Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Medium match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Medium match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

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Other less relevant matches:

Medium match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Medium match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Medium match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Medium match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Low match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Tremor and Hypercholesterolemia

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Hypercholesterolemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Nystagmus Cognitive impairment Dystonia Seizures EEG abnormality Global developmental delay Hypertriglyceridemia Cataract Hearing impairment Dysphagia Strabismus Skeletal muscle atrophy Lower limb muscle weakness Micrognathia Sensory neuropathy Hyporeflexia Cerebellar atrophy Areflexia Mental deterioration Hypothyroidism Developmental regression Abnormal pyramidal sign Neurological speech impairment Microcephaly Slurred speech Short stature Neurodegeneration Delayed speech and language development Cleft palate Mandibular prognathia Wide nasal bridge Generalized hypotonia Behavioral abnormality Myopia Frontal bossing Stereotypy Anxiety Gastroesophageal reflux Abnormality of cardiovascular system morphology Rod-cone dystrophy Hypertelorism Gait disturbance Distal muscle weakness Choreoathetosis Progressive cerebellar ataxia Distal sensory impairment Spasticity Truncal ataxia Gait ataxia Dementia

Rare Symptoms - Less than 30% cases


Constipation Upslanted palpebral fissure Brachycephaly Decreased fetal movement Pes planus Deeply set eye Conductive hearing impairment Oral-pharyngeal dysphagia Clinodactyly of the 5th finger Synophrys Retinal detachment Sleep disturbance Obesity Microcornea Abnormal cerebellum morphology Hoarse voice Hallucinations Self-injurious behavior Midface retrusion Impaired pain sensation Cardiomyopathy Paralysis Pallor Myoclonus Depressivity Oculomotor apraxia Hypoalbuminemia Hyperacusis Abnormal tracheobronchial morphology Failure to thrive Mood changes Brachydactyly Short nose Feeding difficulties in infancy Muscular hypotonia Feeding difficulties Epicanthus Ophthalmoplegia Peripheral axonal neuropathy Hypoplasia of the corpus callosum Abnormality of the dentition Distal amyotrophy Abnormal heart morphology Hyperactivity Paresthesia Chorea Apraxia Abnormality of the kidney Attention deficit hyperactivity disorder Anteverted nares Broad forehead Abnormality of the cardiovascular system Telangiectasia Limb ataxia Failure to thrive in infancy Open bite Congenital cataract Joint stiffness Aggressive behavior Fasciculations Abnormal renal morphology Intellectual disability, mild Confusion Ventriculomegaly Progressive muscle weakness Falls Sensory axonal neuropathy Babinski sign Xanthelasma Pain Tendon xanthomatosis Proximal muscle weakness Decreased number of large peripheral myelinated nerve fibers Dysmetria Malabsorption Congestive heart failure Elevated serum creatine phosphokinase Gaze-evoked nystagmus Hypertonia Visual loss Diabetes mellitus Abnormality of extrapyramidal motor function Arrhythmia Limb muscle weakness Patent foramen ovale Infantile muscular hypotonia Sleep apnea Drowsiness Overweight Morphological abnormality of the middle ear Trigonocephaly Dental crowding Poor fine motor coordination Dental malocclusion Self-mutilation Dysphasia Language impairment Abnormality of dental morphology Abnormality of upper lip Hypocholesterolemia High hypermetropia Poor eye contact Bipolar affective disorder Bifid uvula Echolalia Abnormality of the pharynx Abnormality of chromosome segregation Speech apraxia Delayed myelination Lethargy Triangular face Abnormality of the larynx Frequent temper tantrums Head-banging High palate Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Downslanted palpebral fissures Excessive daytime sleepiness Cavum septum pellucidum Recurrent aspiration pneumonia Premature atrial contractions Autism Pelvic kidney Deep palmar crease Broad face Hypoplasia of the maxilla Neonatal hypotonia Thick upper lip vermilion Low-set, posteriorly rotated ears Apnea Duodenal atresia Bruxism Autistic behavior Wide mouth Short attention span Chronic constipation Expressive language delay Small for gestational age Hypermetropia Smooth philtrum Prominent nasal tip Protruding tongue Central sleep apnea Large face Corticospinal tract hypoplasia Oral cleft Short palm Abnormality of the forearm Nephropathy Delayed eruption of primary teeth Small hand Sensorineural hearing impairment Single transverse palmar crease Delayed eruption of teeth Abnormal localization of kidney Taurodontia Abnormality of the ureter Midline brain calcifications Growth delay Cryptorchidism Full cheeks Prominent forehead Hyperlordosis Cleft lip Intellectual disability, moderate High forehead Polyhydramnios Cerebral cortical atrophy Posteriorly rotated ears Low-set ears Inguinal hernia Clinodactyly Dry skin Malar flattening Edema Intrauterine growth retardation Motor delay Macroglossia Esotropia Receptive language delay Poor suck Increased body weight Lissencephaly Abnormality of the outer ear Drooling Sacral dimple Abnormality of the urinary system Impulsivity Abnormal vertebral morphology Abnormality of the thyroid gland Progressive spastic paraplegia Abnormality of the immune system Broad palm Microtia Depressed nasal bridge Short philtrum Sinusitis Chronic otitis media Broad-based gait Hand polydactyly Precocious puberty Tented upper lip vermilion Renal hypoplasia/aplasia Otitis media Aplasia/Hypoplasia of the corpus callosum Abnormal form of the vertebral bodies Toe syndactyly Open mouth Omphalocele Pachygyria Heterotopia Hypoplasia of dental enamel Cleft upper lip Delayed puberty Abnormality of metabolism/homeostasis Atherosclerosis Abnormal facial shape Infertility Epiphora Myotonia Leukoencephalopathy Spontaneous abortion Palpitations Decreased antibody level in blood Sudden cardiac death Tachycardia Dilated cardiomyopathy Neurofibrillary tangles Muscular dystrophy Myalgia Hypogonadism Myopathy Hypertension Ptosis Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Increased variability in muscle fiber diameter IgG deficiency Elevated alpha-fetoprotein Iridescent posterior subcapsular cataract Urinary incontinence Generalized muscle weakness Muscle cramps Irritability Rigidity Respiratory failure Blindness Optic atrophy Insulin insensitivity Oligospermia Diffuse leukoencephalopathy Frontal balding Type 2 muscle fiber atrophy Hypersomnia Arteriosclerosis Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism Impaired distal vibration sensation Pontocerebellar atrophy Psychosis Visual impairment Abnormality of visual evoked potentials Steatorrhea Hemiplegia/hemiparesis Dysdiadochokinesis Abnormality of retinal pigmentation Nyctalopia Hypertrophic cardiomyopathy Abnormality of the nervous system Limb fasciculations Fat malabsorption Peripheral axonal degeneration Facial grimacing Hypometric saccades Progressive external ophthalmoplegia Axonal degeneration Impaired vibratory sensation External ophthalmoplegia Recurrent infections Immunodeficiency Spinocerebellar tract degeneration Increased LDL cholesterol concentration Conjunctival telangiectasia Increased antibody level in blood Saccadic smooth pursuit Gait imbalance Impaired proprioception Head tremor Impaired smooth pursuit Progressive gait ataxia Urinary bladder sphincter dysfunction Cerebellar vermis atrophy Decreased motor nerve conduction velocity Abetalipoproteinemia Postural tremor Premature ovarian insufficiency Sensorimotor neuropathy Diplopia Peripheral demyelination Sensory impairment Polyneuropathy Abnormality of the foot Vitamin E deficiency Memory impairment Clumsiness Decreased adipose tissue around neck Xanthomatosis Frontal lobe dementia Abnormality of cholesterol metabolism Juvenile cataract Giant cell hepatitis Pseudobulbar paralysis Myelopathy Decreased HDL cholesterol concentration Precocious atherosclerosis Angina pectoris Palatal myoclonus Frontotemporal dementia Delusions Abnormality of the periventricular white matter Agitation Cholelithiasis Abnormality of vision Joint dislocation Nephrolithiasis Chronic diarrhea EMG: axonal abnormality Abnormality of the dentate nucleus Progressive neurologic deterioration Acanthosis nigricans Lack of facial subcutaneous fat Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Orthostatic hypotension Brisk reflexes Glucose intolerance Lipodystrophy Hyperlipidemia Pancreatitis EEG with generalized slow activity Clonus Insulin resistance Abnormality of the face Epidermal acanthosis Pigmentary retinopathy Hypotension Retinopathy Abnormality of central somatosensory evoked potentials Tuberous xanthoma Cholestasis Myocardial infarction Involuntary movements Spinal muscular atrophy Exaggerated startle response Torsion dystonia Action tremor Proximal amyotrophy Loss of speech Muscle fibrillation Amyotrophic lateral sclerosis Personality changes Apathy Paranoia Incoordination Poor head control Hyperkinesis Melanoma Progressive hearing impairment EMG abnormality Muscle stiffness Foot dorsiflexor weakness Aspiration Psychomotor deterioration Decerebrate rigidity Intention tremor Osteoporosis Optic disc pallor Hepatitis Cerebral calcification Parkinsonism Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Abnormality of the eye Jaundice Cerebral atrophy Psychotic episodes Diarrhea Respiratory insufficiency Hyperreflexia Zebra bodies GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Sleep-wake inversion



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