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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
decreased circulating chloride level		Nfasc^{tm1a(EUCOMM)Hmgu}	HET		Early adult	7.60×10^-06
increased circulating triglyceride level		Nfasc^{tm1a(EUCOMM)Hmgu}	HET		Early adult	7.14×10^-11

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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.

Human diseases associated with Nfasc (1 diseases)
Human diseases predicted to be associated with Nfasc (448 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
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine	Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:162600
Fish-Eye Disease	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent...	OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:608236
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo...	OMIM:611228
Neuronopathy, Distal Hereditary Motor, Type Vb	Decreased motor nerve conduction velocity	OMIM:614751
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block	DECIPHER:31
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:306000
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:144300
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr...	OMIM:607734
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno...	OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye...	OMIM:601098
Glycogen Storage Disease Vi	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia	OMIM:232700
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination	OMIM:162500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis	OMIM:105500
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n...	ORPHA:2932
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre...	OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ...	OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ...	OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2O	Decreased motor nerve conduction velocity	OMIM:614228
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Neuronopathy, Distal Hereditary Motor, Type Iib	Paralysis	OMIM:608634
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia	OMIM:300971
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia	OMIM:610947
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity	ORPHA:868
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Hypertrophic nerve changes, Decreased motor nerve conduction velocity	DECIPHER:29
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
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Abnormal circulating lipid concentration	OMIM:615238
Giant Axonal Neuropathy 2, Autosomal Dominant	Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:610100
Parkinsonism With Polyneuropathy	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ...	OMIM:619279
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester...	OMIM:616516
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe...	OMIM:605588
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Laryngeal Abductor Paralysis	Paralysis	OMIM:308850
Neuronopathy, Distal Hereditary Motor, Type Viib	Vocal cord paralysis, Abnormal lower motor neuron morphology	OMIM:607641
Glut1 Deficiency Syndrome 1	Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity	OMIM:606777
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia	OMIM:214700
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:613287
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera...	OMIM:609260
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Null Syndrome	Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Optic atrophy, P...	ORPHA:280234
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL...	OMIM:605814
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Classic Glucose Transporter Type 1 Deficiency Syndrome	Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal dyskinesia...	ORPHA:71277
Charcot-Marie-Tooth Disease, Type 4H	Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr...	OMIM:609311
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration...	OMIM:607706
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618184
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy	Gait ataxia, Paralysis, Progressive cerebellar ataxia, Dysmetria, Limb fasciculations	OMIM:606183
Neuronopathy, Distal Hereditary Motor, Type Vc	Decreased compound muscle action potential amplitude	OMIM:619112
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration	Peripheral axonal neuropathy, Decreased nerve conduction velocity	OMIM:608895
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG abnormality, Abnormal periphe...	ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Axonal degeneration/regener...	OMIM:600882
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec...	ORPHA:90103
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 57	Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:431329
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:601455
Pleoconial Myopathy With Salt Craving	Paralysis	OMIM:262900
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm...	OMIM:601596
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity	ORPHA:101082
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD...	OMIM:615703
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:614895
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Porphyria, Acute Hepatic	Paralysis, Respiratory paralysis	OMIM:612740
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Neuronopathy, Distal Hereditary Motor, Type Iid	Decreased motor nerve conduction velocity	OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my...	OMIM:607831
Motor Neuropathy, Peripheral, With Dysautonomia	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy...	OMIM:252320
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating...	OMIM:144250
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:607616
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria	OMIM:613090
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:600361
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Ataxia With Vitamin 3 Deficiency	Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:277460
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel...	OMIM:214400
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Chronic axonal neuropathy	OMIM:606595
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
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
Variegate Porphyria	Paralysis	OMIM:176200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity	ORPHA:99939
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Decreased motor nerve conduction velocity	OMIM:605726
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	ORPHA:101081
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity	ORPHA:1188
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Axonal degeneration, Peripheral axonal degeneration, A...	OMIM:614436
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity	OMIM:618404
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyperchloriduria	OMIM:602522
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Decreased nerve conduction velocity	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
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased number of large...	OMIM:162400
Charcot-Marie-Tooth Disease, Type 4B2	Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati...	OMIM:604563
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Motor conduction block, Peripheral axonal neuropathy, ...	ORPHA:99953
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:610717
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity	ORPHA:2928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Axonal degeneration, Decreased nerve conduction velocity	OMIM:618138
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Abnormal autonomic nervous ...	ORPHA:139578
Wild Type Abeta2M Amyloidosis	Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity	ORPHA:85446
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity	OMIM:118300
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
Krabbe Disease	Optic atrophy, EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:245200
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	ORPHA:101077
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction	ORPHA:101001
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol...	OMIM:207750
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Paralysis, Respiratory paralysis	ORPHA:681
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Peripheral axonal neuropathy, Decreased distal sensory nerve action potential	OMIM:618400
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Facial palsy	OMIM:607684
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:603472
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:99950
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity	ORPHA:276435
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Bartter Syndrome, Type 1, Antenatal	Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale...	OMIM:601678
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia	OMIM:603471
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe...	OMIM:201300
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity	OMIM:159550
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity	OMIM:618356
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased...	OMIM:618620
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Peripheral axonal neuropathy, Decreased nerve conduction velocity	ORPHA:435387
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism	Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincristine, Degeneration of ante...	OMIM:118301
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul...	OMIM:218000
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers	Decreased motor nerve conduction velocity, Facial palsy	OMIM:601170
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Cerebral palsy, Paralysis	ORPHA:230800
Spinocerebellar Ataxia Type 3	Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce...	ORPHA:98757
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Primary Angiitis Of The Central Nervous System	Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism	ORPHA:140989
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity	OMIM:612674
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude	ORPHA:90117
Lcat Deficiency	Hypertriglyceridemia	ORPHA:650
Bartter Syndrome, Type 2, Antenatal	Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale...	OMIM:241200
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Infantile Bartter Syndrome With Sensorineural Deafness	Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hypokalemia, Hypochloremia, ...	ORPHA:89938
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:302800
Cednik Syndrome	Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:66631
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe...	OMIM:604320
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral axonal degenera...	OMIM:604168
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Leukodystrophy, Hypomyelinating, 2	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Facial palsy, Optic atrophy	OMIM:608804
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity	ORPHA:1933
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity	OMIM:603516
Glycerol Kinase Deficiency	Hypertriglyceridemia	OMIM:307030
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Optic atrophy	OMIM:615419
Gm2-Gangliosidosis, Ab Variant	Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle...	OMIM:272750
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia	OMIM:617885
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc p...	ORPHA:485421
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:619026
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Decreased nerve conduction velocity	OMIM:256600
Renal Tubular Acidosis, Distal, 1	Periodic hypokalemic paresis, Periodic paralysis	OMIM:179800
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Paralysis, Spasticity	ORPHA:803
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity	ORPHA:319514
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/...	OMIM:601152
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration	OMIM:604367
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D...	ORPHA:206443
Hyperlipoproteinemia, Type I	Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip...	OMIM:238600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Motor axonal neuropathy	ORPHA:48431
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Sialidosis Type 1	EEG abnormality, Decreased nerve conduction velocity	ORPHA:812
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials	ORPHA:98755
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin...	ORPHA:247598
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Decreased nerve conduction velocity	OMIM:606070
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:435651
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra...	ORPHA:567548
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral demyelination, Peripheral hypomyelination, Abnormal autonomic nervous system physiolog...	OMIM:609136
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity	OMIM:615368
Adult-Onset Distal Myopathy Due To Vcp Mutation	Facial diplegia, Decreased nerve conduction velocity	ORPHA:329478
Paragangliomas 2	Vocal cord paralysis	OMIM:601650
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity	OMIM:238970
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy	OMIM:256840
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Hypochloremia	ORPHA:90794
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Decreased motor nerve conduction velocity	OMIM:610532
Machado-Joseph Disease Type 3	Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram...	ORPHA:276244
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased sensory nerve ...	ORPHA:298
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Lipe-Related Familial Partial Lipodystrophy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia	ORPHA:435660
Foodborne Botulism	Diaphragmatic paralysis, Cerebral palsy, Paralysis	ORPHA:228371
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas...	OMIM:267700
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi...	ORPHA:247585
Spastic Ataxia, Charlevoix-Saguenay Type	Onion bulb formation, Decreased motor nerve conduction velocity, Decreased sensory nerve conducti...	OMIM:270550
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Combined Oxidative Phosphorylation Defect Type 39	Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor, Hypsarrhythmia	ORPHA:565624
X-Linked Adrenoleukodystrophy	Incoordination, Clumsiness, Paraparesis, Hemiparesis, Paralysis, Progressive spastic paraparesis	ORPHA:43
Glioblastoma	Paralysis	ORPHA:360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Hand tremor, Poor fine motor coordination, Vocal cord paralysis, Babinski sign, ...	ORPHA:99947
Metachromatic Leukodystrophy	Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:250100
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity	OMIM:616652
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Decreased nerve con...	OMIM:618733
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr...	OMIM:164400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	ORPHA:209902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia	ORPHA:364
Snakebite Envenomation	Pseudobulbar paralysis, Paralysis, Respiratory paralysis	ORPHA:449285
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Myoclonus, Paralysis	ORPHA:83601
Lethal Ataxia With Deafness And Optic Atrophy	EEG with focal epileptiform discharges, Decreased motor nerve conduction velocity, Optic atrophy,...	ORPHA:1187
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:101085
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination	OMIM:609033
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,...	OMIM:278000
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Machado-Joseph Disease Type 1	Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram...	ORPHA:276238
Machado-Joseph Disease Type 2	Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram...	ORPHA:276241
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia	ORPHA:528
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis	OMIM:613239
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy	ORPHA:101076
Friedreich Ataxia	Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Op...	OMIM:229300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Dysbetalipoproteinemia	Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,...	ORPHA:412
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester...	ORPHA:98855
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity	ORPHA:600
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity	OMIM:610651
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocity	ORPHA:206436
Japanese Encephalitis	Pill-rolling tremor, Tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Hyp...	ORPHA:79139
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral...	ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 55	Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy	ORPHA:320375
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester...	ORPHA:98853
Diarrhea 10, Protein-Losing Enteropathy Type	Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia	OMIM:618183
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Infantile Neuroaxonal Dystrophy	Diffuse axonal swelling, Abnormal autonomic nervous system physiology, Peripheral axonal neuropat...	ORPHA:35069
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Inhalational Botulism	Paralysis	ORPHA:254504
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
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Glycogen Storage Disease Iii	Elevated circulating creatine kinase concentration, Hyperlipidemia	OMIM:232400
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy	OMIM:615663
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity	OMIM:614863
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat...	OMIM:603553
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Axonal degeneration, Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity	ORPHA:88628
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction v...	ORPHA:309271
Alstrom Syndrome	Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration	OMIM:203800
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Facial pa...	ORPHA:456312
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia	ORPHA:444490
Brown-Vialetto-Van Laere Syndrome 1	Clumsiness, Knee clonus, Ankle clonus, Ataxia, Vocal cord paralysis, Tongue fasciculations	OMIM:211530
Chediak-Higashi Syndrome	Decreased nerve conduction velocity	OMIM:214500
Cerebrotendinous Xanthomatosis	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease...	ORPHA:909
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:370
Friedreich Ataxia	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Optic atrophy	ORPHA:95
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis	ORPHA:98897
Spinocerebellar Ataxia, X-Linked 3	Unilateral vocal cord paralysis, Incoordination, Head titubation, Dysmetria, Intention tremor, Sp...	OMIM:301790
Hyperkalemic Periodic Paralysis	Fasciculations, Hypertonia, Periodic hyperkalemic paralysis, Cerebral palsy	ORPHA:682
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Paralysis, Myoclonus, Ataxia	OMIM:203700
Poliomyelitis	Fasciculations, Paraparesis, Hyperkinetic movements, Paralysis	ORPHA:2912
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:613327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:264580
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Cockayne Syndrome A	Peripheral dysmyelination, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:216400
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci...	ORPHA:470
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98907
Cockayne Syndrome B	Peripheral dysmyelination, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Vocal cord paralysis	OMIM:615490
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia	OMIM:256300
Encephalocraniocutaneous Lipomatosis	Hemiplegia, Hypertonia, Hemiparesis, Paralysis, Tetraplegia, Rigidity, Spasticity	ORPHA:2396
Thyrotoxic Periodic Paralysis	Tremor, Periodic hypokalemic paresis, Paralysis, Respiratory paralysis, Tetraplegia	ORPHA:79102
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:585
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Peripheral axonal neuropathy	OMIM:606002
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Tick-Borne Encephalitis	Tremor, Incoordination, Speech apraxia, Hyperkinetic movements, Paralysis, Tongue fasciculations	ORPHA:297
Congenital Analbuminemia	Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia	ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:94080
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity	OMIM:261515
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci...	ORPHA:466768
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity	ORPHA:167
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Metachromatic Leukodystrophy	Decreased nerve conduction velocity	ORPHA:512
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Paragangliomas 3	Vocal cord paralysis	OMIM:605373
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Cockayne Syndrome	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:191
Mucopolysaccharidosis Type 2	Optic atrophy, Papilledema, Decreased nerve conduction velocity	ORPHA:580
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Cockayne Syndrome Type 1	Abnormality of peripheral nerve conduction, Absent brainstem auditory responses, Optic atrophy	ORPHA:90321
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Myoclonus, Spasticity	ORPHA:500144
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia	ORPHA:79259
Paragangliomas 1	Vocal cord paralysis	OMIM:168000
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Hurler Syndrome	Abnormal nerve conduction velocity	ORPHA:93473
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia	ORPHA:35909
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Niemann-Pick Disease Type B	Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent...	ORPHA:77293
Charcot-Marie-Tooth Disease Type 4C	Abnormal motor nerve conduction velocity, Onion bulb formation, Facial palsy, Abnormality of the ...	ORPHA:99949
Congenital Disorder Of Deglycosylation	Decreased sensory nerve conduction velocity	OMIM:615273
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia, Paralysis	ORPHA:2072
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98908
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:276621
Pineoblastoma	Paralysis	ORPHA:251909
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Gait ataxia, Vocal cord paralysis, Babinski sign	ORPHA:268882
Carnitine Palmitoyltransferase Ii Deficiency	Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni...	ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Decreased HDL choles...	OMIM:256040
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia	OMIM:269700
African Trypanosomiasis	Tremor, Hemiparesis, Paralysis, Involuntary movements, Fasciculations, Choreoathetosis, Abnormal ...	ORPHA:3385
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni...	ORPHA:228308
Gitelman Syndrome	Paralysis	ORPHA:358
Cockayne Syndrome Type 3	Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Optic disc pallor	ORPHA:90324
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:2442
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Glossopharyngeal Neuralgia	Vocal cord paralysis	ORPHA:221098
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity	ORPHA:285
Primary Lipodystrophy	Hyperlipidemia	ORPHA:90970
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:29072
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Van Esch-O'Driscoll Syndrome	Unilateral vocal cord paralysis, Spasticity	OMIM:301030
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia	OMIM:248370
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Glycogen Storage Disease Ia	Xanthelasma, Hyperuricemia, Hyperlipidemia	OMIM:232200
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction	OMIM:601992
Glycogen Storage Disease Ib	Xanthelasma, Hyperuricemia, Hyperlipidemia	OMIM:232220
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of peripheral nerve conduction, Abnormality of the autonomic nervous system, Orthosta...	ORPHA:642
Mucopolysaccharidosis Type 3	Vocal cord paresis, Hypertonia, Abnormal pyramidal sign, Ataxia, Spasticity	ORPHA:581
Glycogen Storage Disease Ic	Xanthelasma, Hyperuricemia, Hyperlipidemia	OMIM:232240
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined	Abnormality of peripheral nerve conduction	OMIM:302900
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Schinzel-Giedion Syndrome	Hypertonia, Vocal cord paralysis, Spasticity	ORPHA:798
Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Hyperlipidemia	ORPHA:565612
Friedreich Ataxia And Congenital Glaucoma	Decreased amplitude of sensory action potentials	OMIM:229310
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia	ORPHA:324
Esophageal Atresia	Hypertonia, Vocal cord paresis	ORPHA:1199
Choreoacanthocytosis	Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Abnormal autonomi...	ORPHA:2388
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia	ORPHA:391665
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia	ORPHA:64
Williams-Beuren Syndrome	Incoordination, Vocal cord paralysis, Poor coordination	OMIM:194050
Turner Syndrome	Hyperlipidemia	ORPHA:881
Mosaic Monosomy X	Hyperlipidemia	ORPHA:99228
Monosomy X	Hyperlipidemia	ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperlipidemia	ORPHA:99413

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

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