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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 (458 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	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine	Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination	OMIM:162600
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent...	OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination	OMIM:608236
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Charcot-Marie-Tooth Disease, Type 4J	Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ...	OMIM:611228
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Neuronopathy, Distal Hereditary Motor, Type Vb	Decreased motor nerve conduction velocity	OMIM:614751
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb...	OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio...	OMIM:608323
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip...	OMIM:118210
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a...	OMIM:601382
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:605285
Chronic Inflammatory Demyelinating Polyneuropathy	Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated...	OMIM:608673
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From...	OMIM:162500
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con...	OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ...	OMIM:607706
Neuronopathy, Distal Hereditary Motor, Type Iib	Paralysis	OMIM:608634
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy	Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity	OMIM:618912
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity	OMIM:612577
Subacute Inflammatory Demyelinating Polyneuropathy	Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v...	ORPHA:206594
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, Type Iia	Paralysis	OMIM:158590
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:144600
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Hypertrophic nerve changes	DECIPHER:29
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:610947
Giant Axonal Neuropathy 2, Autosomal Dominant	Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:610100
Parkinsonism With Polyneuropathy	Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr...	OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre...	OMIM:605588
Laryngeal Abductor Paralysis	Paralysis	OMIM:308850
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Glut1 Deficiency Syndrome 1	Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis	OMIM:606777
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Vestibular schwannoma, Decreased compound muscle action potential amplitude	OMIM:613641
Neuronopathy, Distal Hereditary Motor, Type Viib	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased...	OMIM:214400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Null Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P...	ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec...	OMIM:609260
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Roussy-Levy Hereditary Areflexic Dystasia	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con...	OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:613287
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy	Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis	OMIM:606183
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Neuronopathy, Distal Hereditary Motor, Type Vc	Decreased compound muscle action potential amplitude	OMIM:619112
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc...	ORPHA:457205
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid...	OMIM:605814
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S...	ORPHA:71277
Macular Degeneration, Age-Related, 3	Peripheral axonal neuropathy, Decreased nerve conduction velocity	OMIM:608895
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Decreased moto...	OMIM:600882
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve...	ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb...	OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Pleoconial Myopathy With Salt Craving	Paralysis	OMIM:262900
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis	OMIM:300857
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination	ORPHA:101082
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve co...	OMIM:618184
Motor Neuropathy, Peripheral, With Dysautonomia	Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p...	OMIM:252320
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:614895
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Porphyria, Acute Hepatic	Paralysis, Respiratory paralysis	OMIM:612740
Neuronopathy, Distal Hereditary Motor, Type Iid	Decreased motor nerve conduction velocity	OMIM:615575
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con...	OMIM:118220
Charcot-Marie-Tooth Disease, Type 4C	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto...	OMIM:601596
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:600361
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Charcot-Marie-Tooth Disease, Type 4B3	Onion bulb formation, Decreased nerve conduction velocity	OMIM:615284
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity	ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity	ORPHA:101078
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity	ORPHA:99939
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu...	OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Chronic axonal neuropathy, Decreased motor nerve conduction velocity	OMIM:606595
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	ORPHA:101081
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Decreased motor nerve conduction velocity	OMIM:605726
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
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	Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity	OMIM:618404
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de...	OMIM:614436
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination	OMIM:249900
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 2B1	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb...	ORPHA:98856
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Hypertrophic Neuropathy Of Dejerine-Sottas	Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/...	OMIM:145900
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co...	ORPHA:99948
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Decreased number of peripheral myelinated nerve...	OMIM:604563
Variegate Porphyria	Paralysis	OMIM:176200
Charcot-Marie-Tooth Disease Type 4G	Motor conduction block, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ...	ORPHA:99953
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ...	ORPHA:139578
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity	ORPHA:2928
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Wild Type Abeta2M Amyloidosis	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss	ORPHA:85446
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	ORPHA:101077
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity	OMIM:118300
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction	ORPHA:101001
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:607616
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:619851
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Krabbe Disease	Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Peripheral demyelination	OMIM:245200
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Paralysis, Respiratory paralysis	ORPHA:681
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy, Decrease...	OMIM:162400
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity	ORPHA:99014
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr...	OMIM:201300
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:603472
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Peripheral axonal neuropathy	OMIM:618400
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ...	OMIM:615558
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Facial palsy	OMIM:607684
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity	ORPHA:276435
Charcot-Marie-Tooth Disease Type 4D	Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity	ORPHA:99950
Rabies	Cerebral palsy, Vocal cord paresis	ORPHA:770
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased...	OMIM:618620
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity	OMIM:159550
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity	OMIM:618356
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers	Decreased motor nerve conduction velocity, Facial palsy	OMIM:601170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Peripheral axonal neuropathy, Decreased nerve conduction velocity	ORPHA:435387
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism	Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells...	OMIM:118301
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot...	OMIM:218000
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Spinocerebellar Ataxia Type 3	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal...	ORPHA:98757
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity	OMIM:619862
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:270685
Primary Angiitis Of The Central Nervous System	Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis	ORPHA:140989
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen...	OMIM:604320
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude	ORPHA:90117
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Abnormal motor nerve conduction velocity, Facial palsy	OMIM:614399
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ...	OMIM:302800
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity	OMIM:616688
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip...	OMIM:604168
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity	OMIM:612674
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity	ORPHA:1933
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Peri...	OMIM:256840
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615419
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Lcat Deficiency	Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles...	ORPHA:650
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:619026
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Facial palsy	OMIM:608804
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet...	OMIM:272750
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity	ORPHA:319514
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy...	ORPHA:485421
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Amyotrophic Lateral Sclerosis 4, Juvenile	Axonal degeneration, Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnorma...	OMIM:602433
Citrullinemia, Type Ii, Adult-Onset	Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia	OMIM:603471
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Paralysis, Spasticity, Amyotrophic lateral sclerosis	ORPHA:803
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Decreased nerve conduction velocity	OMIM:256600
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased ci...	OMIM:615947
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br...	ORPHA:206443
Glycerol Kinase Deficiency	Hypertriglyceridemia	OMIM:307030
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity	OMIM:615368
Sialidosis Type 1	EEG abnormality, Decreased nerve conduction velocity	ORPHA:812
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormality of somatosensory evoked potentials, Abnormal nerve conduction velocity	ORPHA:98755
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Axonal degeneration/...	OMIM:601152
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Motor axonal neuropathy	ORPHA:48431
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude	OMIM:603511
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity	OMIM:243000
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester...	OMIM:238600
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Adult-Onset Distal Myopathy Due To Vcp Mutation	Facial diplegia, Decreased nerve conduction velocity	ORPHA:329478
Paragangliomas 2	Vocal cord paralysis	OMIM:601650
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination	OMIM:250100
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	ORPHA:298
Machado-Joseph Disease Type 3	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera...	ORPHA:276244
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Decreased motor nerve conduction velocity	OMIM:610532
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity	OMIM:238970
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination	OMIM:609033
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, EEG abnormality, Decreased nerve conduction velocity, Hypsarrhythmia	ORPHA:565624
Glioblastoma	Paralysis	ORPHA:360
X-Linked Adrenoleukodystrophy	Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination	ORPHA:43
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Poor fine motor coordination, Hand tremor, Babinski sign, Frequent falls, Postural tremor, Vocal ...	ORPHA:99947
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Decreased mot...	OMIM:270550
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:435651
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity	OMIM:616652
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Sensory axonal neuropathy, Decreased nerve cond...	OMIM:618733
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:616192
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr...	OMIM:267700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating...	ORPHA:247598
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Decreased nerve conduction velocity	OMIM:606070
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H...	ORPHA:247585
Spinocerebellar Ataxia 1	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Optic atr...	OMIM:164400
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Snakebite Envenomation	Pseudobulbar paralysis, Paralysis, Respiratory paralysis	ORPHA:449285
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti...	ORPHA:158057
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity	OMIM:603516
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Myoclonus, Paralysis	ORPHA:83601
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked pot...	ORPHA:1187
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:101085
Machado-Joseph Disease Type 1	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal...	ORPHA:276238
Machado-Joseph Disease Type 2	Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal...	ORPHA:276241
Friedreich Ataxia	Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti...	OMIM:229300
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
X-Linked Charcot-Marie-Tooth Disease Type 2	Optic neuropathy, Optic disc pallor, Decreased motor nerve conduction velocity	ORPHA:101076
Infantile Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials	ORPHA:206436
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conduct...	OMIM:609136
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity	ORPHA:600
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip...	ORPHA:168563
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	ORPHA:412
Lysosomal Acid Lipase Deficiency	Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy...	OMIM:278000
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Japanese Encephalitis	Hypertonia, Opisthotonus, Respiratory paralysis, Paucity of anterior horn motor neurons, Pill-rol...	ORPHA:79139
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity	OMIM:610651
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Decreased nerve conduction velocity	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Decreased nerve conduction velocity	ORPHA:309263
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation	ORPHA:320375
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity	ORPHA:477817
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti...	ORPHA:158061
Infantile Neuroaxonal Dystrophy	Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Optic atrophy, Diffus...	ORPHA:35069
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Inhalational Botulism	Paralysis	ORPHA:254504
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	ORPHA:98855
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level	ORPHA:2457
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615663
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	ORPHA:98853
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity, Axonal degeneration	ORPHA:88628
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction v...	ORPHA:309271
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity	OMIM:614863
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to...	OMIM:603553
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co...	OMIM:615980
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia	OMIM:618183
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve...	ORPHA:456312
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Ataxia, Paralysis, Myoclonus	OMIM:203700
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Hereditary Sensory And Autonomic Neuropathy Type 1	Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Mo...	ORPHA:36386
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Clumsiness, Ankle clonus, Knee clonus, Tongue fasciculations, Vocal cord paralysis	OMIM:211530
Friedreich Ataxia	Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy	ORPHA:95
Spinocerebellar Ataxia, X-Linked 3	Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Spasticity, Incoor...	OMIM:301790
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Cerebrotendinous Xanthomatosis	Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d...	ORPHA:909
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis	ORPHA:98897
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Chediak-Higashi Syndrome	Decreased nerve conduction velocity	OMIM:214500
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:203800
Hyperkalemic Periodic Paralysis	Hypertonia, Cerebral palsy, Periodic hyperkalemic paralysis, Fasciculations	ORPHA:682
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia	ORPHA:444490
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:79240
Poliomyelitis	Paraparesis, Fasciculations, Hyperkinetic movements, Paralysis	ORPHA:2912
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ax...	OMIM:614575
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:370
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:264580
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Vocal cord paralysis	OMIM:615490
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia	ORPHA:79102
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity	OMIM:261515
Encephalocraniocutaneous Lipomatosis	Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia	ORPHA:2396
Cockayne Syndrome B	Abnormal peripheral myelination, Decreased nerve conduction velocity, Optic atrophy, Abnormal aud...	OMIM:133540
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98907
Cockayne Syndrome A	Abnormal peripheral myelination, Decreased nerve conduction velocity, Optic atrophy, Abnormal aud...	OMIM:216400
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Andersen-Tawil Syndrome	Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis	ORPHA:37553
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:606002
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Frequent falls, Vocal cord paresis	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Fasciculations, Vocal cord paresis, Polyminimyoclonus	OMIM:619574
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe...	ORPHA:470
Bickerstaff Brainstem Encephalitis	EEG abnormality, Abnormality of the autonomic nervous system, Decreased motor nerve conduction ve...	ORPHA:79138
Tick-Borne Encephalitis	Hyperkinetic movements, Tremor, Speech apraxia, Paralysis, Incoordination, Tongue fasciculations	ORPHA:297
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:94080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc...	ORPHA:466768
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity	ORPHA:167
Metachromatic Leukodystrophy	Decreased nerve conduction velocity	ORPHA:512
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Rift Valley Fever	Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis	ORPHA:319251
Wilson Disease	Decreased nerve conduction velocity	OMIM:277900
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia	ORPHA:86816
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch...	ORPHA:90041
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond...	ORPHA:99949
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Lysosomal Acid Lipase Deficiency	Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia	ORPHA:275761
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Cockayne Syndrome	Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased nerve conduction velocity	ORPHA:191
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Hurler Syndrome	Abnormal nerve conduction velocity	ORPHA:93473
Paragangliomas 3	Vocal cord paralysis	OMIM:605373
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Mucopolysaccharidosis Type 2	Optic atrophy, Papilledema, Decreased nerve conduction velocity	ORPHA:580
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia	ORPHA:158048
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Myoclonus, Vocal cord paralysis, Spasticity	ORPHA:500144
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Cockayne Syndrome Type 1	Optic atrophy, Abnormality of peripheral nerve conduction, Absent brainstem auditory responses	ORPHA:90321
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia	ORPHA:79259
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Paragangliomas 1	Vocal cord paralysis	OMIM:168000
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Chronic Visceral Acid Sphingomyelinase Deficiency	Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration...	ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hypertonia, Limb ataxia, Spastic paraplegia, Paralysis, Oculomotor apraxia	ORPHA:2072
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity	OMIM:615273
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Pineoblastoma	Paralysis	ORPHA:251909
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98908
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:276621
Arnold-Chiari Malformation Type I	Babinski sign, Progressive cerebellar ataxia, Vocal cord paralysis, Gait ataxia	ORPHA:268882
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Vocal cord paralysis, Poor fine motor coordination	ORPHA:99956
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis	OMIM:617799
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
African Trypanosomiasis	Hemiparesis, Tremor, Choreoathetosis, Involuntary movements, Paralysis, Fasciculations, Abnormal ...	ORPHA:3385
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k...	ORPHA:157
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Abnormality of peripheral nerve conduction	ORPHA:90324
Gitelman Syndrome	Paralysis	ORPHA:358
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:2442
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul...	ORPHA:228308
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H...	ORPHA:189427
Glossopharyngeal Neuralgia	Vocal cord paralysis	ORPHA:221098
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity	ORPHA:285
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:29072
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction	OMIM:601992
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia	ORPHA:567983
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Glycogen Storage Disease Ia	Hyperlipidemia, Hyperuricemia, Xanthelasma	OMIM:232200
Mucopolysaccharidosis Type 3	Hypertonia, Ataxia, Abnormal pyramidal sign, Vocal cord paresis, Spasticity	ORPHA:581
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Glycogen Storage Disease Ib	Hyperlipidemia, Hyperuricemia, Xanthelasma	OMIM:232220
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined	Abnormality of peripheral nerve conduction	OMIM:302900
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Abnormality of peripheral nerve conduction,...	ORPHA:642
Van Esch-O'Driscoll Syndrome	Motor stereotypy, Unilateral vocal cord paralysis, Spasticity	OMIM:301030
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Glycogen Storage Disease Ic	Hyperlipidemia, Hyperuricemia, Xanthelasma	OMIM:232240
Schinzel-Giedion Syndrome	Hypertonia, Vocal cord paralysis, Spasticity	ORPHA:798
Codas Syndrome	Vocal cord paresis	OMIM:600373
Friedreich Ataxia And Congenital Glaucoma	Decreased amplitude of sensory action potentials	OMIM:229310
Degcags Syndrome	Vocal cord paralysis	OMIM:619488
Esophageal Atresia	Hypertonia, Vocal cord paresis	ORPHA:1199
Choreoacanthocytosis	Decreased amplitude of sensory action potentials, Decreased number of peripheral myelinated nerve...	ORPHA:2388
Williams-Beuren Syndrome	Incoordination, Vocal cord paralysis, Poor coordination	OMIM:194050
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia	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

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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

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