Tremor, and Hypertriglyceridemia

Diseases related with Tremor and Hypertriglyceridemia

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


Top matches:

Medium match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Medium match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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

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Other less relevant matches:

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low 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 NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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 Hypertriglyceridemia

Symptoms // Phenotype % cases
Areflexia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Obesity Hyperlipidemia Muscle weakness Global developmental delay Hypercholesterolemia Hyporeflexia Sensory neuropathy Short stature Proximal muscle weakness Pain Hepatomegaly Delayed speech and language development Insulin resistance Strabismus Generalized hypotonia Intellectual disability Elevated serum creatine phosphokinase Difficulty walking Diabetes mellitus Sleep disturbance Myopathy Pes cavus Micrognathia Paresthesia Fasciculations Developmental regression Mental deterioration Hepatic steatosis Edema Scoliosis Nystagmus Hyperactivity

Rare Symptoms - Less than 30% cases


Dysmetria Pneumonia Lower limb muscle weakness Hoarse voice Babinski sign Neurological speech impairment Frontal bossing Distal muscle weakness Rod-cone dystrophy Distal sensory impairment Myopia Cardiomyopathy Dysphagia Peripheral demyelination Ventriculomegaly Conductive hearing impairment Impaired pain sensation Decreased fetal movement Microcornea Retinal detachment Neurodegeneration Falls Peripheral axonal neuropathy Stereotypy Hyperacusis Abnormal tracheobronchial morphology Sensory axonal neuropathy Synophrys Anxiety Recurrent infections Anteverted nares Deeply set eye EEG abnormality Pes planus Gastroesophageal reflux Mandibular prognathia Hypothyroidism Brachycephaly Upslanted palpebral fissure Constipation Self-injurious behavior Abnormality of cardiovascular system morphology Midface retrusion Spinocerebellar tract degeneration Short nose Clinodactyly of the 5th finger Wide nasal bridge Dysarthria Spasticity Aggressive behavior Pancreatitis Hypertonia Cerebellar atrophy Muscular hypotonia Myalgia Lethargy Gait ataxia Visual impairment Progressive muscle weakness Sensorineural hearing impairment Hearing impairment Drowsiness Overweight Bulbar signs Dystonia Hand tremor Lipodystrophy Spinal muscular atrophy Cataract Cleft palate Amyotrophic lateral sclerosis Muscle cramps Brisk reflexes Elevated hepatic transaminase Hypertelorism Acanthosis nigricans Microcephaly Bulbar palsy Neuronal loss in central nervous system Abnormality of lipid metabolism Abnormal pyramidal sign Brachydactyly Orthostatic hypotension Delayed puberty Glucose intolerance Clonus Toe syndactyly Pigmentary retinopathy Abnormality of the face Cleft upper lip Epidermal acanthosis Retinopathy Hypotension Open mouth Congenital cataract Abnormal form of the vertebral bodies Absence of subcutaneous fat Ichthyosis Broad forehead Easy fatigability Renal hypoplasia/aplasia Depressed nasal bridge Increased muscle lipid content Progressive proximal muscle weakness Neck muscle weakness Difficulty running Gowers sign Psoriasiform dermatitis Exercise intolerance Short philtrum Waddling gait Congestive heart failure Fatigue Decreased adipose tissue around neck Lack of facial subcutaneous fat Feeding difficulties in infancy Joint stiffness Attention deficit hyperactivity disorder Loss of subcutaneous adipose tissue in limbs Aplasia/Hypoplasia of the corpus callosum Abnormality of the dentition Tented upper lip vermilion Sacral dimple Protruding tongue Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Impulsivity Poor suck Abnormality of the urinary system Drooling Chronic constipation Abnormality of the outer ear Lissencephaly Increased body weight Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Self-mutilation Short attention span Abnormality of the cardiovascular system Recurrent aspiration pneumonia Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Mood changes Excessive daytime sleepiness Bruxism Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Broad-based gait Otitis media Precocious puberty Failure to thrive Behavioral abnormality Laryngospasm Hypoplasia of the corpus callosum Intrauterine growth retardation Epicanthus Motor delay Feeding difficulties Low-set ears Cryptorchidism Growth delay Abnormality of metabolism/homeostasis Corticospinal tract hypoplasia Delayed eruption of primary teeth Large face Abnormal localization of kidney Taurodontia Abnormality of the ureter Chronic otitis media Hand polydactyly Failure to thrive in infancy Malar flattening Clinodactyly Esotropia Microtia Full cheeks Macroglossia Delayed eruption of teeth Single transverse palmar crease Small hand Nephropathy Short palm Oral cleft Dry skin Paralysis Abnormal heart morphology Hyperlordosis Abnormality of the kidney Cleft lip Intellectual disability, moderate High forehead Polyhydramnios Cerebral cortical atrophy Prominent forehead Posteriorly rotated ears Inguinal hernia Proximal spinal muscular atrophy Decreased number of peripheral myelinated nerve fibers Erectile abnormalities Hypertrophic cardiomyopathy Abnormality of visual evoked potentials Steatorrhea Hemiplegia/hemiparesis Dysdiadochokinesis Slurred speech Abnormality of retinal pigmentation Malabsorption Nyctalopia Abnormality of the nervous system Increased LDL cholesterol concentration Arrhythmia Visual loss Reduced intraabdominal adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Fat malabsorption Xanthelasma Limb dystonia Recurrent respiratory infections Spastic paraplegia Leukemia Abnormality of the eye Rigidity Photophobia Hepatosplenomegaly Jaundice Reduced visual acuity Thrombocytopenia Abetalipoproteinemia Immunodeficiency Splenomegaly Atrial septal defect Fever Anemia Neoplasm Tendon xanthomatosis Vitamin E deficiency Loss of speech Reduced subcutaneous adipose tissue Paraplegia Cholestasis Hepatocellular carcinoma Insomnia Restlessness Hypoalbuminemia Hyperammonemia Hepatic fibrosis Hallucinations Decreased liver function Psychosis Intrahepatic cholestasis Memory impairment Coma Confusion Abnormality of the liver Irritability Carcinoma Diarrhea Vomiting Delusions Echolalia Hyperinsulinemia Encephalopathy Generalized hirsutism Tetraparesis Status epilepticus Cirrhosis Respiratory tract infection Coarse facial features Respiratory failure Myoclonus Cerebral atrophy Enuresis Respiratory insufficiency Hyperreflexia Hypertension Cognitive impairment Hypoargininemia Delayed menarche Delirium Mania Cerebral edema Abnormality of movement Lymphadenopathy Exercise-induced muscle cramps Proximal amyotrophy Abnormal cerebellum morphology Facial asymmetry Infertility Limb muscle weakness Muscular dystrophy Atrophy of the spinal cord Degeneration of anterior horn cells Areflexia of lower limbs Axonal degeneration Intention tremor Mildly elevated creatine phosphokinase Myotonia Sensory impairment Gliosis Tetraplegia Polyneuropathy Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Type II diabetes mellitus Gynecomastia Giant melanosomes in melanocytes Distal lower limb amyotrophy Motor neuron atrophy Limb tremor Tongue atrophy Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Aspiration pneumonia Aspiration Abnormality of the mouth Axonal loss Muscle fibrillation Decreased fertility Impotence Calf muscle hypertrophy Limb-girdle muscular dystrophy Dysphonia Abnormality of multiple cell lineages in the bone marrow Recurrent cutaneous abscess formation Bruising susceptibility Pancytopenia Cranial nerve paralysis Leukopenia Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Amblyopia Cutaneous photosensitivity Epistaxis Abnormality of extrapyramidal motor function Decreased nerve conduction velocity Bradykinesia Gastrointestinal hemorrhage Lymphoma Brain atrophy Parkinsonism Abnormal bleeding Hypopigmentation of the skin Neutropenia Abnormality of vision Melanocytic nevus Abnormal leukocyte morphology White hair Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Generalized hypopigmentation Albinism Fair hair Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Cerebral hemorrhage Sleep-wake inversion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Clinodactyly, related diseases and genetic alterations Congestive heart failure and Progressive cerebellar ataxia, related diseases and genetic alterations Fever and Agenesis of corpus callosum, related diseases and genetic alterations

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