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Gene: Nfasc MGI:104753

Gene Summary

Name:

neurofascin

Synonyms:

D430023G06Rik

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating triglyceride level		Nfasc^{tm1a(EUCOMM)Hmgu}	HET		Early adult	9.22×10^-05

Download data as: TSV XLS

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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 Nfasc 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.

Human diseases associated with Nfasc (1 diseases)
Human diseases predicted to be associated with Nfasc (483 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction		Decreased nerve conduction velocity	OMIM:618356

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis	OMIM:105500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity	OMIM:612577
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity	ORPHA:868
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity	OMIM:620111
Parkinsonism With Polyneuropathy	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ...	OMIM:619279
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity	OMIM:605726
Charcot-Marie-Tooth Disease, Type 4J	Decreased nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:611228
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:608323
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity	OMIM:605253
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Decreased m...	OMIM:601098
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity	ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Decreased motor nerve conduction velocity	OMIM:162500
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos...	ORPHA:71277
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis, Amyotrophic lateral sclerosis	OMIM:300857
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Null Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity	ORPHA:280234
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity	OMIM:616687
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity	DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD...	OMIM:615703
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ...	OMIM:616040
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Abnormalit...	ORPHA:90103
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity	OMIM:615376
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity	OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity	OMIM:613287
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:610100
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud...	ORPHA:457205
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity	ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials	OMIM:608673
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity	ORPHA:352675
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity	ORPHA:99944
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Facial palsy, Decreased motor nerve conduction velocity	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity	OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity	OMIM:606595
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity	ORPHA:1188
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity	OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velo...	OMIM:609260
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity	OMIM:600361
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction	ORPHA:65684
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Abnormal motor evoked potentials	ORPHA:99939
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	ORPHA:101081
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618184
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity	ORPHA:101075
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity	ORPHA:101082
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v...	OMIM:607684
Variegate Porphyria	Paralysis	OMIM:176200
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity	OMIM:609311
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:600882
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction	ORPHA:101001
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity	ORPHA:2928
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity	OMIM:605588
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis	OMIM:605285
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Neonatal death	OMIM:616287
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity	OMIM:620068
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity	OMIM:615284
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Motor conduction block	ORPHA:99948
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:85446
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity	OMIM:607734
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity	OMIM:249900
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity	OMIM:607831
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity	ORPHA:101077
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal flash visual evoked...	OMIM:245200
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity	OMIM:159550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity	OMIM:618138
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:603472
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity	ORPHA:276435
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity	OMIM:180800
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Motor...	ORPHA:99953
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity	OMIM:613724
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:99950
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity	ORPHA:435387
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p...	ORPHA:485421
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:230800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:1933
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:201300
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity	OMIM:619862
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:214400
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity	OMIM:607250
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Congenital Myopathy 10A, Severe Variant	Abnormal motor nerve conduction velocity, Facial palsy	OMIM:614399
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Optic atrophy	OMIM:612674
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity	ORPHA:319514
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:270685
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity	OMIM:614436
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity	OMIM:118300
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity	OMIM:618356
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity	OMIM:118220
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:616688
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity	OMIM:604563
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity	OMIM:619851
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:619026
Lethal Congenital Contracture Syndrome 5	EEG with burst suppression, Decreased nerve conduction velocity	OMIM:615368
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	OMIM:256600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615419
Gm2-Gangliosidosis, Ab Variant	Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet...	OMIM:272750
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity	OMIM:118200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity	OMIM:238970
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology	ORPHA:90117
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:145900
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia	ORPHA:329478
Tangier Disease	Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli...	OMIM:615947
Sialidosis Type 1	Decreased nerve conduction velocity, EEG abnormality	ORPHA:812
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology,...	ORPHA:276244
X-Linked Adrenoleukodystrophy	Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis	ORPHA:43
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand tremor, Postural tremor, Babinski sign, Vocal cord paralysis, Frequent falls, Poor fine moto...	ORPHA:99947
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor...	ORPHA:98755
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity	OMIM:604320
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity	OMIM:614895
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Facial palsy, Decreased motor nerve conduction velocity	OMIM:608804
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:98856
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Glioblastoma	Paralysis	ORPHA:360
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity	ORPHA:565624
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua...	OMIM:601152
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron...	ORPHA:803
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Snakebite Envenomation	Respiratory paralysis, Paralysis, Pseudobulbar paralysis	ORPHA:449285
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:228371
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:616192
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:256840
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia, Neonatal death	OMIM:618186
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Optic Atrophy 11	Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sensory nerve conduction ve...	OMIM:617302
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity	OMIM:615490
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity	OMIM:603516
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude	OMIM:603511
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206436
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges,...	ORPHA:1187
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Friedreich Ataxia	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action...	OMIM:229300
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Spinocerebellar Ataxia 1	Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p...	OMIM:164400
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy	OMIM:250100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction	ORPHA:48431
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity	OMIM:302800
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Amyotrophic Lateral Sclerosis 21	Decreased nerve conduction velocity	OMIM:606070
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity	OMIM:609033
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity	OMIM:604168
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	ORPHA:298
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity	ORPHA:600
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,...	ORPHA:412
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia	ORPHA:101085
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
X-Linked Charcot-Marie-Tooth Disease Type 2	Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy	ORPHA:101076
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD...	OMIM:278000
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618733
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Decreased compound muscle action potential amplitude	OMIM:301830
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude	OMIM:606353
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity	OMIM:616652
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy	OMIM:610651
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia	ORPHA:528
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98855
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Optic ...	ORPHA:309271
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Inhalational Botulism	Paralysis	ORPHA:254504
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity	ORPHA:477817
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy	OMIM:614863
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98853
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:270550
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude	OMIM:618279
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ...	OMIM:609136
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Hypertriglyceridemia	ORPHA:79083
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615663
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy	ORPHA:320375
Oculopharyngodistal Myopathy	Vocal cord paresis, Paraplegia	ORPHA:98897
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations	ORPHA:682
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality...	ORPHA:909
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc...	ORPHA:456312
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of peripheral nerve conductio...	ORPHA:35069
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Poliomyelitis	Hyperkinetic movements, Paralysis, Paraparesis, Fasciculations	ORPHA:2912
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Decreased compound muscle action potential amplitude	OMIM:620528
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Familial Chylomicronemia Syndrome	Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia	ORPHA:444490
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Truncal ataxia, Kn...	OMIM:211530
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Chediak-Higashi Syndrome	Decreased nerve conduction velocity	OMIM:214500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79240
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Werner Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia	ORPHA:79102
Encephalocraniocutaneous Lipomatosis	Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia	ORPHA:2396
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations	OMIM:619574
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ...	ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:264580
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis	ORPHA:37553
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity	OMIM:261515
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:613327
Non-Functioning Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:94080
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Frequent falls	ORPHA:101097
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormality of peripheral nerve conduction	ORPHA:168563
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Friedreich Ataxia	Optic atrophy, Decreased motor nerve conduction velocity	ORPHA:95
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98907
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Cockayne Syndrome B	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal...	OMIM:133540
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Cockayne Syndrome A	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal...	OMIM:216400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal sensory nerve conduction velocity	ORPHA:88628
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis	ORPHA:297
Rift Valley Fever	Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis	ORPHA:319251
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Hereditary Sensory And Autonomic Neuropathy Type 1	Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials	ORPHA:36386
Prader-Willi Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials	OMIM:608984
Seckel Syndrome 10	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:617253
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity	ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Myoclonus, Vocal cord paralysis	ORPHA:500144
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia	ORPHA:275761
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia	OMIM:203700
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Cockayne Syndrome	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:191
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Mucopolysaccharidosis Type 2	Decreased nerve conduction velocity, Papilledema, Optic atrophy	ORPHA:580
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79259
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:610717
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Alstrom Syndrome	Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid...	OMIM:203800
Hurler Syndrome	Abnormal nerve conduction velocity	ORPHA:93473
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis	ORPHA:99949
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia	ORPHA:31150
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Wilson Disease	Decreased nerve conduction velocity	OMIM:277900
Amyotrophic Lateral Sclerosis 4, Juvenile	Decreased compound muscle action potential amplitude	OMIM:602433
Cockayne Syndrome Type 1	Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction	ORPHA:90321
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity	OMIM:606002
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci...	ORPHA:466768
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hypertonia	ORPHA:2072
Glycerol Kinase Deficiency	Hyperglycerolemia, Hypertriglyceridemia	OMIM:307030
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98908
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia	OMIM:619573
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia...	ORPHA:77293
Sporadic Pheochromocytoma/Secreting Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:276621
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Vocal cord paralysis, Poor fine motor coordination	ORPHA:99956
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid cerebral palsy	OMIM:617799
Arnold-Chiari Malformation Type I	Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia	ORPHA:268882
Pineoblastoma	Paralysis	ORPHA:251909
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity	OMIM:615273
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:157
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:228308
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:619127
Glossopharyngeal Neuralgia	Vocal cord paralysis	ORPHA:221098
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, H...	OMIM:256040
Lipodystrophy, Congenital Generalized, Type 2	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:269700
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
African Trypanosomiasis	Involuntary movements, Fasciculations, Abnormal central motor function, Tremor, Hemiparesis, Para...	ORPHA:3385
Gitelman Syndrome	Paralysis	ORPHA:358
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H...	ORPHA:189427
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:285
Hereditary Pheochromocytoma-Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:29072
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:110
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Cockayne Syndrome Type 3	Optic disc pallor, Abnormality of peripheral nerve conduction	ORPHA:90324
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Abnormal pyramidal sign, Hypertonia, Ataxia	ORPHA:581
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232220
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Van Esch-O'Driscoll Syndrome	Unilateral vocal cord paralysis, Spasticity	OMIM:301030
Schinzel-Giedion Syndrome	Spasticity, Vocal cord paralysis, Hypertonia	ORPHA:798
Esophageal Atresia	Vocal cord paresis, Hypertonia	ORPHA:1199
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Degcags Syndrome	Vocal cord paralysis	OMIM:619488
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system...	ORPHA:642
Fabry Disease	Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction	OMIM:601992
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Acrofacial Dysostosis, Cincinnati Type	Abnormality of coordination, Lower limb spasticity, Myoclonus, Vocal cord paralysis	OMIM:616462
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Williams-Beuren Syndrome	Incoordination, Poor coordination, Vocal cord paralysis	OMIM:194050
Choreoacanthocytosis	Decreased amplitude of sensory action potentials, Abnormal autonomic nervous system physiology	ORPHA:2388
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Alström Syndrome	Hyperlipidemia, Hypertriglyceridemia	ORPHA:64
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665

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 Nfasc

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 Nfasc.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The paranodal cytoskeleton clusters Na+ channels at nodes of Ranvier.	eLife (January 2017)	Nfasc^{tm1c(EUCOMM)Hmgu} Nfasc^{tm1a(EUCOMM)Hmgu}	PMC5279941

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
Nfasc^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Nfasc^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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