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Gene: Gjb1 MGI:95719

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gap junction protein, beta 1
Synonyms:
Cx32,  connexin 32,  Gjb-1,  connexin-32

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Gjb1 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 Gjb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:302800
X-Linked Progressive Cerebellar Ataxia
Axonal loss ORPHA:1175

The table below shows human diseases predicted to be associated to Gjb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Peripheral demyelination, Polyneuritis OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... ORPHA:208981
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... ORPHA:280234
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... OMIM:162500
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Decreased nerve conduction... OMIM:252320
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:600882
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... OMIM:618184
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity OMIM:612577
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axona... OMIM:221770
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased sensory... ORPHA:101081
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... ORPHA:99939
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... ORPHA:90103
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Gliosis, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellu... OMIM:220111
Krabbe Disease
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, CNS demyelination, Periphera... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... ORPHA:101097
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Glio... OMIM:604484
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:618912
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Delayed myelination OMIM:617391
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... OMIM:604168
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy OMIM:615035
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased nerve co... OMIM:618404
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Le... OMIM:169500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
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
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelination, Facial ... OMIM:601170
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:619851
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Peripheral axonal... ORPHA:101077
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity OMIM:614932
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic transaminase, Fa... OMIM:232700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Cirrhos... OMIM:256810
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease Type 4D
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Demy... ORPHA:99950
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior h... OMIM:118301
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Trigeminal Neuralgia
Cranial nerve compression, Peripheral demyelination, CNS demyelination ORPHA:221091
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation OMIM:610532
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606595
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... OMIM:608720
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Leukodystrophy, Decreased motor nerve conduction velocity, Cerebr... OMIM:608804
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... OMIM:302800
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials, Peripheral demyelination, CNS de... ORPHA:206448
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination OMIM:250100
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Abnormal myelination OMIM:618324
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Abse... OMIM:609136
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss ORPHA:85446
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:612674
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613812
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... OMIM:214950
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... ORPHA:168563
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Glutaric Acidemia I
Failure to thrive, Delayed myelination, Hepatomegaly, Hypoglycemia, Symmetrical progressive perip... OMIM:231670
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity ORPHA:319514
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Molybdenum Cofactor Deficiency, Complementation Group A
Aldehyde oxidase deficiency, Gliosis, Molybdenum cofactor deficiency, Sulfite oxidase deficiency,... OMIM:252150
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... OMIM:270550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormality of somatosensory evoked potentials, Abnormal nerve conduction velocity ORPHA:98755
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Peripheral demyelination, Axonal loss OMIM:252160
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy OMIM:607684
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... OMIM:604320
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... OMIM:619484
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Elevated hepatic transaminase, CNS hypomyelination, Peripheral axonal neuropathy OMIM:619688
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:235555
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... OMIM:618549
Lethal Ataxia With Deafness And Optic Atrophy
Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreased motor... ORPHA:1187
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Abnormal CNS myelination, Decreased nerve conduct... ORPHA:206443
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Gliosis, Decreased nerve conduction velocity OMIM:256600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Yuan-Harel-Lupski Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Infantile Neuroaxonal Dystrophy
Cerebellar gliosis, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, O... ORPHA:35069
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Giant Axonal Neuropathy 1, Autosomal Recessive
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:616688
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Jaundice, Intrahepatic cholestasis, Abnormal liver function tests ... OMIM:147480
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia OMIM:260565
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased nerve conduction velocity, Peripheral hypomyelination, Decre... OMIM:618733
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:607765
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Peri... OMIM:256840
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Abnormal CNS myelination, Decreased nerve conduction velocity OMIM:610651
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Severe demyelination of the white matter, Optic atrophy, Hypoglycemia, Jaundic... ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Decreased sensory nerve conduction velocity, Optic neuropathy ORPHA:320375
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... ORPHA:485421
Sialidosis Type 1
EEG abnormality, Decreased nerve conduction velocity ORPHA:812
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... ORPHA:466768
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Demyelinating peripheral neuropathy, Hepatomegaly, Hepatic failure, Segmental ... ORPHA:255210
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity ORPHA:309263
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic fai... ORPHA:367
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity, Axonal degeneration ORPHA:88628
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Axonal degeneration/... OMIM:601152
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... ORPHA:567983
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity ORPHA:600
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity ORPHA:329478
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity OMIM:615368
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Elevated hepatic... ORPHA:2089
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, EEG abnormality, Decreased nerve conduction velocity, Hypsarrhythmia ORPHA:565624
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... ORPHA:254930
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Decreased body weight, Delayed myelination, Leukodystrophy, Overweight, Neurof... OMIM:619475
Spinocerebellar Ataxia 1
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Optic atr... OMIM:164400
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Decreased ne... ORPHA:309271
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Mo... ORPHA:36386
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Cerebrotendinous Xanthomatosis
Optic neuropathy, Gliosis, Abnormal motor evoked potentials, Decreased nerve conduction velocity,... ORPHA:909
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials ORPHA:206436
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Gliosis, Cerebral hypomyelination ORPHA:280210
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti... OMIM:229300
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Gliosis, Decreased nerve conduction velocity OMIM:261515
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ax... OMIM:614575
Cockayne Syndrome B
Failure to thrive, Abnormal peripheral myelination, Hepatomegaly, Decreased nerve conduction velo... OMIM:133540
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Optic disc pallor, Decreased motor nerve conduction velocity ORPHA:101076
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormal myelination, EEG with multifocal slow activity, Hypsarrhythmia ORPHA:442835
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Charcot-Marie-Tooth Disease Type 1E
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity ORPHA:90658
Charcot-Marie-Tooth Disease Type 4C
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... ORPHA:99949
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Cockayne Syndrome A
Abnormal peripheral myelination, Decreased nerve conduction velocity, Patchy demyelination of sub... OMIM:216400
Bickerstaff Brainstem Encephalitis
EEG abnormality, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous ... ORPHA:79138
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p... OMIM:256800
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Astrocytosis, Optic disc pallo... ORPHA:90324
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of peripheral nerve conduction, Absent brainstem auditory responses ORPHA:90321
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... ORPHA:456312
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Cockayne Syndrome
Cerebral dysmyelination, Gliosis, Demyelinating peripheral neuropathy, Decreased nerve conduction... ORPHA:191
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy ORPHA:95
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Japanese Encephalitis
EEG abnormality, Paucity of anterior horn motor neurons, Decreased motor nerve conduction velocit... ORPHA:79139
Wilson Disease
Mixed demyelinating and axonal polyneuropathy, Decreased nerve conduction velocity OMIM:277900
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Bohring-Opitz Syndrome
Failure to thrive, Delayed peripheral myelination, Hyperechogenic pancreas OMIM:605039
Congenital Disorder Of Deglycosylation 1
Gliosis, Delayed myelination, Decreased sensory nerve conduction velocity, Delayed CNS myelination OMIM:615273
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:606002
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Choreoacanthocytosis
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Periph... ORPHA:2388
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Gliosis, Delayed myelination, EEG abnormality, Optic atrophy, Optic disc pallor, Abnormal myelina... ORPHA:404454
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Astrocytosis ORPHA:309854
Monosomy 18Q
Abnormal myelination ORPHA:1600
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of peripheral nerve conduction OMIM:302900
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of peripheral nerve conduction,... ORPHA:642
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials OMIM:229310
Degcags Syndrome
Abnormal myelination OMIM:619488
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179
X-Linked Progressive Cerebellar Ataxia
Axonal loss ORPHA:1175

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 Gjb1

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 Gjb1.

No publications found that use IMPC mice or data for Gjb1.

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MGI Allele Allele Type Produced
Gjb1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gjb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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