Gene Summary

Name:
FYVE, RhoGEF and PH domain containing 4
Synonyms:
ZFYVE6,  Frabin,  Frabin-alpha,  Frabin-gamma,  9330209B17Rik,  Frabin-beta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Fgd4tm1a(EUCOMM)Wtsi HOM Early adult 1.12×10-05

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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.

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

View all 20 images

Human diseases caused by Fgd4 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 Fgd4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311

The table below shows human diseases predicted to be associated to Fgd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... OMIM:611228
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Clusters of axonal regeneration, Decreased number of p... OMIM:607734
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Decreased sensory nerve conduction velocity, Decreased motor nerve conductio... OMIM:608323
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Null Syndrome
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:118210
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:180800
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:607706
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:118220
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin... OMIM:614895
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:145900
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Decreased moto... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:99939
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral axonal neuropathy... ORPHA:99953
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb formation OMIM:618279
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... OMIM:601596
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Acute dem... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ... OMIM:245200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:613287
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Demyelinating peri... OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606595
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Chronic axonal neuropathy, Motor conduction block, Demyelina... ORPHA:99948
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:600361
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased number of peri... OMIM:607250
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Axonal degeneration, Periphe... OMIM:604168
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Axonal loss, Segmental ... OMIM:601455
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination, EEG abnormality OMIM:221770
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Axonal loss, Decreased motor nerve conduction velocity, Motor axonal neuropathy OMIM:620068
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Leukodystrophy, Hypomyelinating, 24
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased motor nerve con... OMIM:162400
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Axonal degeneration, Dec... OMIM:615490
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:612674
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrop... OMIM:608804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination ORPHA:319514
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Axonal degeneration, Decreased number of peripheral my... OMIM:302800
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, CNS demyeli... ORPHA:206448
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Charcot-Marie-Tooth Disease And Deafness
Axonal loss, Decreased motor nerve conduction velocity OMIM:118300
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfuncti... OMIM:169500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... OMIM:609136
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor... OMIM:604320
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:603472
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... OMIM:606070
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Peripheral hypomyelination ORPHA:48431
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ... ORPHA:101085
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number... OMIM:270550
Tangier Disease
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia OMIM:205400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:604484
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Sensory axonal neuropathy, Decreased amplitude of sensory ac... OMIM:618733
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:298
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia OMIM:260565
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... ORPHA:309256
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology ORPHA:90117
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:256840
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... ORPHA:309263
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic... OMIM:601152
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Delayed CNS myelination, Decreased se... OMIM:617302
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Decreased nerve conduction velocity OMIM:615368
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:619026
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation ORPHA:320375
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity ORPHA:565624
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor... ORPHA:98755
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618186
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Orthostatic hypotension due t... ORPHA:309271
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:229300
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Abnormality of visual ... ORPHA:206436
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, EEG abnormality OMIM:182290
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:616192
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy ORPHA:101076
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:90658
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Peripheral axonal neuropathy, Decreased compound muscle action potential amplitude, Motor axonal ... OMIM:620528
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve co... ORPHA:466768
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Abnormal... ORPHA:35069
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination OMIM:252160
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory nerve conduction veloci... ORPHA:88628
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:216400
Molybdenum Cofactor Deficiency, Type A
Axonal loss, Peripheral demyelination OMIM:252150
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormal myelination, Hypsarrhythmia, EEG with multifocal slow activity ORPHA:442835
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Decreased number of p... ORPHA:99949
Bickerstaff Brainstem Encephalitis
Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous... ORPHA:79138
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc... ORPHA:456312
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Cerebral dysmyelination OMIM:261515
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter ORPHA:79282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibroma, Leukodystrophy, Peripheral demyelination, Hypsarrhythmia, EEG abnormality, Multifoc... OMIM:619475
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy ORPHA:95
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, Mo... ORPHA:36386
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Japanese Encephalitis
Decreased motor nerve conduction velocity, Paucity of anterior horn motor neurons, EEG with burst... ORPHA:79139
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606002
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating p... ORPHA:191
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Laron Syndrome
Hypercholesterolemia ORPHA:633
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials OMIM:608984
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Delayed CNS myelination, Delayed myelination OMIM:615273
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction ORPHA:90321
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Demyelinating periphera... ORPHA:90324
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension OMIM:223900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:285
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, EEG abnormality, Axonal loss, Optic disc pallor, Abnormal myelination, Delayed mye... ORPHA:404454
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Choreoacanthocytosis
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Abnormal autonomi... ORPHA:2388
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Abnormal myelination, Hypsarrhythmia OMIM:620371
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Monosomy 18Q
Abnormal myelination ORPHA:1600
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination ORPHA:309854
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... ORPHA:642
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Degcags Syndrome
Abnormal myelination OMIM:619488
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

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 Fgd4

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 Fgd4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fgd4tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)