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
decreased circulating chloride level Nfasctm1a(EUCOMM)Hmgu HET Early adult 7.60×10-06
increased circulating triglyceride level Nfasctm1a(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.

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
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) 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

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