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Gene: Coq8a MGI:1914676

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
coenzyme Q8A
Synonyms:
4632432J16Rik,  Cabc1,  Adck3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Coq8a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Coq8a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 4
Exercise intolerance, Epilepsia partialis continua, Decreased level of coenzyme Q10 in skeletal m... OMIM:612016
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Exercise intolerance, Progressive cerebellar ataxia, Seizure, Tremor, Cerebellar atrophy, Myoclon... ORPHA:139485

The table below shows human diseases predicted to be associated to Coq8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Spastic Paraplegia Type 4
Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity, Distal amyotrophy, ... ORPHA:100985
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Dist... ORPHA:101010
Ceroid Lipofuscinosis, Neuronal, 11
Generalized myoclonic seizure, Seizure, Cerebellar atrophy, EEG with generalized polyspikes, Atax... OMIM:614706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impairment of activities of daily living... OMIM:619742
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus,... OMIM:616187
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Seizure, Cerebellar atrophy, Loss of ambulation, Ataxia, Increased neuronal aut... OMIM:600143
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cereb... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Dementia, Abnormality of extrapyramidal motor function, Neuro... OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Spasticity, Tremor,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, ... OMIM:162350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hypertriglyceridemia, Neuronal loss in central nervous system, Spasticity, Trem... OMIM:615924
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Hyperlipidemia, Gait... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Dista... OMIM:607250
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Seizure, Elevated circulating creatine kinase conc... ORPHA:972
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Steppage gait, Spastic dysarthria, Global brain atrophy, Impai... ORPHA:94124
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Babinski sign, Steppage gait, Rimmed vacuoles, Facia... OMIM:617158
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Dysdiadochokinesis, Seizure, Cerebellar atrophy, Motor... OMIM:256731
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, EEG wi... OMIM:614018
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Seizure, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Gi... OMIM:618876
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Dentatorubral-Pallidoluysian Atrophy
Dementia, Atrophy of the dentate nucleus, Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Chore... OMIM:125370
Myopathy, Centronuclear, 4
Exercise intolerance, Abnormal circulating creatine kinase concentration, Seizure, Frequent falls... OMIM:614807
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Ragged-red muscle fibers, Spasticity, Seizure, Increased serum pyr... OMIM:545000
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Tendon xanthomatosis, Impaired proprioception, Xanthelasma, Progressive cer... OMIM:277460
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Distal amyotrophy, Tremor, Cerebellar atrophy, Elevated... OMIM:618387
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Type 2 muscle fiber... OMIM:619028
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Hip pain, Frontotemporal dementia, Pelvic girdle amyotrophy, Myopathy, Rimmed vacuoles, Limb musc... OMIM:167320
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Cerebellar atrophy, Cognitive impairment, Ataxia, Myoclonus, Clumsiness, Seizure, Tremor,... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Ce... OMIM:614831
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Broad-based gait, Foc... OMIM:617665
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Exercise-induced myalgia, Facial palsy, EMG: m... OMIM:254110
Spinocerebellar Ataxia Type 12
Bradykinesia, Cerebral atrophy, Dementia, Tremor by anatomical site, Poor fine motor coordination... ORPHA:98762
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Elevated circu... OMIM:253601
Spinocerebellar Ataxia 17
Urinary incontinence, Chorea, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Rigidity, A... OMIM:607136
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:618088
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Urinary incontinence, Memory impairment, Chorea, Dysdiadochokinesis, Tremor, Atheto... OMIM:213600
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myocloni... ORPHA:263516
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Generalized myoclonic seizure, Abnormality of pattern visual evoked potentials,... ORPHA:1947
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Distal amyotrophy, Spasticity, Myoclonus, Dysd... OMIM:614487
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Urinary incontinence, Lower limb spasticity, Broad-based gait, Progressive spastic ... ORPHA:306511
Atypical Juvenile Parkinsonism
Hypomimic face, Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Seizure... ORPHA:391411
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Babinski sign, Somatic sensory dysfunction, Distal sensory impairment, Lo... OMIM:616924
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Necrotizing myopathy, Fasciculations, Facial diplegia, Bowel incontinence, ... ORPHA:329478
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Distal a... OMIM:208920
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Spin... OMIM:271150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Positive Romberg sign, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cognitiv... OMIM:616479
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Exercise-induced myalgia, Seizure, Elevated circulating creatine kinase... OMIM:618416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Urinary incontinence, Cerebellar atrophy, Gait ataxia, Ataxia, Abnormal pons morphology, Impaired... ORPHA:98
Tibial Muscular Dystrophy
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Mildly elevated... ORPHA:609
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Mental deterioration, Distal amyotr... OMIM:611302
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Cognitive impairment, Focal autonomic seizure, Myoclon... ORPHA:363558
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Exercise-induced myalgia, Rimmed vacuoles, Elevated circulating cr... OMIM:615424
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Focal-onset seizure, Hypsarrhythmia, Seizure, Spasticity, Bilateral tonic-cloni... OMIM:226750
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hypertriglyceridemia, Progressive psychomotor deterioration, Neuronal loss in c... ORPHA:363400
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Distal amyotrophy, Spastic... ORPHA:313772
Coenzyme Q10 Deficiency, Primary, 4
Exercise intolerance, Epilepsia partialis continua, Decreased level of coenzyme Q10 in skeletal m... OMIM:612016
Griscelli Syndrome Type 1
Seizure, Hyperlipidemia, Hypertonia, Ataxia ORPHA:79476
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Spinocerebellar Ataxia 48
Babinski sign, Urinary incontinence, Chorea, Mental deterioration, Tremor, Cerebellar atrophy, Bi... OMIM:618093
Autosomal Dominant Spastic Paraplegia Type 37
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Progressive spastic parap... ORPHA:171612
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Dementia, EEG with irregular generalized spike and wave complexes, T... OMIM:607876
Alexander Disease
Babinski sign, Abnormal dentate nucleus morphology, Spasticity, Seizure, Fatigue, Ataxia, Dysmetr... OMIM:203450
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Urinary incontinence, Oculomotor apraxia, Mental deterioration, Dysdiadochokinesis, ... OMIM:617145
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Ragged-red muscle fibers, Mental deterioration, Increased serum pyruvate, F... ORPHA:1349
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction... OMIM:600224
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Cerebellar atrophy, Corpus callosum atrophy, Myoclonic seizure, Atonic seizu... ORPHA:168491
Huntington Disease-Like 3
Urinary incontinence, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Seizure, ... OMIM:604802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Seizure, Hyperuricemia, Hyperlipidemia, Cognitive impairment ORPHA:364
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Distal sensory impairment, Decreased nerve conduction velocity, Dementia, Dis... ORPHA:600
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Urinary incontinence, Progressive cerebellar at... OMIM:603516
Spinocerebellar Ataxia 2
Urinary incontinence, Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigi... OMIM:183090
Mitochondrial Myopathy With Lactic Acidosis
Tip-toe gait, Spasticity, Seizure, Increased serum pyruvate, Fatigue, Focal impaired awareness se... OMIM:251950
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Chorea, Spasticity, Neuronal loss in central nerv... ORPHA:98759
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Calf muscle hypertrophy, Tremor, Shuffling gait, Upper limb muscle weakness, Fati... ORPHA:209335
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Dement... OMIM:606693
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment... OMIM:606070
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Carnitine Palmitoyl Transferase 1A Deficiency
Seizure, Transient hyperlipidemia, Fatigue, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Sudd... ORPHA:156
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Distal amyotrophy, Hyperlipidemia, Myopathy OMIM:232400
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Apraxia, Memory ... ORPHA:1020
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Autosomal Dominant Optic Atrophy, Classic Form
Dementia, Atrophy/Degeneration affecting the brainstem, Spasticity, Seizure, Scapular winging, Ce... ORPHA:98673
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98855
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Lower limb amyotrophy, Fasciculations, Cerebellar atrophy, Upper limb muscl... ORPHA:466768
Methanol Poisoning
Abdominal pain, Confusion, Seizure, Hyperlipidemia, Abnormal cerebellar cortex morphology ORPHA:31825
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:261
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Fatigue,... OMIM:619178
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, ... OMIM:612020
Cerebrotendinous Xanthomatosis
Cerebral atrophy, Tendon xanthomatosis, Babinski sign, Difficulty walking, Xanthelasma, Dementia,... OMIM:213700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Exercise intolerance, Ragged-red muscle fibers, Seizure, EMG: myopathic abnorma... OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating cr... OMIM:613157
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Dementia, Memor... ORPHA:101
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Memory... ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency
Exercise intolerance, Cerebellar vermis hypoplasia, Exercise-induced myalgia, Seizure, Hyperlipid... ORPHA:157
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy ORPHA:366
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Abdominal colic, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Atrophy/Degeneration affecting the brainstem, Tetraplegia, Cerebellar atrophy... OMIM:616267
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Fatigue, Elevated circul... OMIM:123320
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers, Right hemiplegia, S... OMIM:607426
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Exercise intolerance, Progressive cerebellar ataxia, Seizure, Tremor, Cerebellar atrophy, Myoclon... ORPHA:139485
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Babinski sign, Truncal ataxia, Dysesthesia, Cerebellar atrophy, Fatigue, Gait ataxia... OMIM:619259
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements, Hyperlipidemia, Retrocerebellar cyst ORPHA:289522
Becker Muscular Dystrophy
Tip-toe gait, Exercise intolerance, Difficulty walking, Falls, Elevated circulating creatine kina... ORPHA:98895
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Amyotrophic Lateral Sclerosis
Babinski sign, Progressive spinal muscular atrophy, Frontotemporal dementia, Progressive distal m... ORPHA:803
Lafora Disease
Focal-onset seizure, Atypical absence seizure, Atonic seizure, Ataxia, Giant somatosensory evoked... ORPHA:501
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Urinary incontinence, Progressive cerebellar ataxia, Dementia, Spa... OMIM:616640
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... OMIM:603813
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Griscelli Syndrome Type 2
Seizure, Hypertonia, Hyperlipidemia ORPHA:79477
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Sudden cardiac death OMIM:610947
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Fatigue, Leg muscle stiffness, Involuntary movements, Gait ... OMIM:615530
Xp21 Deletion Syndrome
Hypertriglyceridemia, Spasticity, Exercise-induced myalgia, Calf muscle hypertrophy, Seizure, Con... ORPHA:261476
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Adrenomyeloneuropathy
Spastic gait, Urinary incontinence, Impaired continence, Bowel incontinence, Cognitive impairment... ORPHA:139399
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Postexertional symptom exacerbation ORPHA:369
Cholestasis-Lymphedema Syndrome
Bone pain, Abdominal pain, Hyperlipidemia, Fatigue ORPHA:1414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Seizure, Hyperlipidemia, Cognitive impairment, Increased blood urea nitrogen, Hemiparesis, Elevat... OMIM:235400
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
19P13.12 Microdeletion Syndrome
Seizure, Arthrogryposis multiplex congenita, Hyperlipidemia, Aplasia/Hypoplasia of the cerebellar... ORPHA:254346
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Impaired temperature sensation, De... OMIM:205400
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Immunodeficiency 114, Folate-Responsive
Cerebral atrophy, Hypertriglyceridemia, Seizure, Cerebellar atrophy, Increased circulating ferrit... OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Hypertonia, Decreased HDL cholesterol concentration, Seizure, Tetraplegia, ... OMIM:267700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Seizure, Hyperlipidemia ORPHA:2089
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal nerve conduction velocity, Impaired pain sensation, Seizure, Pain ... OMIM:182290
Kufor-Rakeb Syndrome
Urinary incontinence, Bowel incontinence, Rigidity, Myoclonus, Babinski sign, Hypertonia, Difficu... ORPHA:306674
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Seizure, Hyperlipidemia, Elevated circulating creatine kinase conce... ORPHA:228308
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Seizure, Increased circulating ferritin concentration OMIM:603552
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Fatigue, Hyperuricemia OMIM:306000
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, EMG: myopathic abnormalities, Central nervous system de... ORPHA:98907
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hyperammonemia, Seizure, Elevated circulating creatine kinase concentra... OMIM:255120
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Feb... OMIM:618010
Primary Triglyceride Deposit Cardiomyovasculopathy
Precordial pain, Rimmed vacuoles, Hyperlipidemia, Elevated circulating creatine kinase concentrat... ORPHA:565612
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Fatigue, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Reni Syndrome
Hypertriglyceridemia, Seizure, Ataxia, Hypoalbuminemia, Mental deterioration OMIM:617575
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Hyperlipidemia, Cognitive impairment, Proximal amyotrophy, Hyperaldosteronism,... ORPHA:189427
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Difficulty walking, Abnormal circulating c... ORPHA:98908
Schimke Immuno-Osseous Dysplasia
Seizure, Hyperlipidemia, Hemiparesis, Hemiplegia, Status epilepticus, Focal hemiclonic seizure ORPHA:1830
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure, Hypertriglyceridemia, Abnormal circulating lipid concent... ORPHA:77293
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Fabry Disease
Abnormal circulating lipid concentration, Abdominal pain, Seizure, Hyperlipidemia, Fatigue, Cogni... ORPHA:324
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy ORPHA:280356
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Exercise intolerance, Decreased muscle mass, Hypoalbuminemia OMIM:619013
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Increased circulating chylomicron concentration, Memory impairment, Hyperli... ORPHA:444490
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased nerve conduction velocity, Inability to walk, Brain atrophy, Seiz... ORPHA:167
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, Seizure, Gait disturbance, Attention deficit hyper... ORPHA:819
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypertonia, Seizure, Tetraplegia, Hypoproteinemia, Increased total bilirubi... OMIM:603553
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Exercise intolerance, Elevated circulating creatine kinase concentration, F... ORPHA:79240
Familial Multiple Lipomatosis
Seizure, Hyperlipidemia ORPHA:199276
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Hyperuricemia, Skeletal muscle h... ORPHA:79083
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Exercise intolerance, Skeletal muscle hypertrophy, Elev... OMIM:613327
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Skeletal muscle hypertrophy, Eleva... ORPHA:435660
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Confusion, Hyperargininemia, Hyperammonemia OMIM:603471
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Episodic abdom... OMIM:238600
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Mya... ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Exercise intolerance, Difficulty walking, Fasciculations, Elevated circulat... OMIM:610717
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture OMIM:608612
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Glycogen Storage Disease Ia
Xanthelasma, Decreased muscle mass, Hyperlipidemia, Hyperuricemia OMIM:232200
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Aapoaiv Amyloidosis
Back pain, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Flexion contracture OMIM:616222
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Abdominal pain, Hyperlipidemia, Fatigue ORPHA:567546
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Exercise intolerance, Elevated circulating creatine kinase concentration, F... ORPHA:264580
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Arthralgia, Flexion contracture ORPHA:90153
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemic seizures, Xanthelasma, Hyperuricemia, Hyperlipidemia, Cognitiv... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Elbow flexion contracture, Hyperlipidemia, Camptodactyly, Flexion contracture, Hyperc... OMIM:248370
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Skeletal muscle hypertrophy, Increased C-peptide level, Macroglossia, Hyper... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... ORPHA:369837
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia ORPHA:435651
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Impaired pain sensation, Poor gros... OMIM:176270
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Abdominal pain, Hypoalbuminemia, ... ORPHA:567548
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Abdominal pain, Hyperlipidemia, Abnormal circulating fatty-acid co... ORPHA:567983
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Joint contracture OMIM:615381
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Seizure, Ataxia, Hyperproteinemia, Increased circulating ferritin concentra... ORPHA:158048
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Dysbetalipoproteinemia
Hypertriglyceridemia, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma,... ORPHA:412
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Seizure, Increased circulating ferritin concentration ORPHA:540
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the large join... ORPHA:2457
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Abdominal pain, Increased circulating ferritin concentration, Fatigue OMIM:619802
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Skeletal muscle hypertrophy, Muscl... ORPHA:280365
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Seizure, Myalgia, Myopathy OMIM:307030
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia, Mental deterioration ORPHA:3464
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired pain sensation, Hyponatremia, Seizure, Hyperlipidemia ORPHA:293987
Tangier Disease
Hypertriglyceridemia, Impaired temperature sensation, Abdominal pain, Facial diplegia, Left ventr... ORPHA:31150
Woodhouse-Sakati Syndrome
Abnormality of extrapyramidal motor function, Choreoathetosis, Hyperlipidemia OMIM:241080
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Skele... OMIM:151660
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Epigastric pain, Fatigue, Increased circulating renin level,... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Hypertriglyceridemia, Arthralgia, Flexion contracture OMIM:617591
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Calf muscle pseudohypertrophy, Myopathy, Abnormal circulating lipid concent... ORPHA:79086
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Aromatase Deficiency
Bone pain, Hyperlipidemia ORPHA:91
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Abdominal pain, Cognitive impairmen... ORPHA:275761
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... ORPHA:391665
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Babinski sign, Distal sensory impairment, Dysdiadochokinesis, Gait ataxia, ... OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat... OMIM:256040
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypertonia, Chiari type I malformation, Limb hypertonia, Skeletal muscle hy... ORPHA:3455
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Seizure, Spasticity, Short attenti... ORPHA:110
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Werner Syndrome
Low back pain, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Generalized-onset seizure, Weakness of facial musculature OMIM:619418
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Impaired temperature sensation ORPHA:536532
H Syndrome
Hypertriglyceridemia, Camptodactyly ORPHA:168569
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypertonia, Truncal ataxia, Dandy-Walker malformation, Intention tremor, Ge... OMIM:264090
Alström Syndrome
Hypertriglyceridemia, Typical absence seizure, Urinary incontinence, Incoordination, Poor fine mo... ORPHA:64
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric... OMIM:203800
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Generalized muscular appearance from birth, Elevated hemoglobin A1c OMIM:269700
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Left ventricular hypertrophy OMIM:619127
Atypical Werner Syndrome
Hypertriglyceridemia, Exercise-induced myalgia, Calf muscle hypertrophy, Skeletal muscle atrophy,... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Generalized muscular appearance from birth OMIM:608594
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Coq8a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Coq8a.

No publications found that use IMPC mice or data for Coq8a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Coq8atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Coq8atm96731(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coq8atm96731(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Coq8aem1Ics Point Mutation Mice
Coq8atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Coq8atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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