Gene Summary

Name:
neurofascin
Synonyms:
D430023G06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Nfasctm1a(EUCOMM)Hmgu HET Early adult 9.22×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
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) Nfasctm1c(EUCOMM)Hmgu Nfasctm1a(EUCOMM)Hmgu PMC5279941

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MGI Allele Allele Type Produced
Nfasctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nfasctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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