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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
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... 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
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond... ORPHA:2932
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:607706
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination OMIM:618279
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination OMIM:249900
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, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Decreased motor nerve co... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... OMIM:608323
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyeli... OMIM:221770
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, D... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... OMIM:245200
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Decreased sensory ... ORPHA:101081
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:98856
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, P... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation OMIM:615284
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Gliosis, Autonomic bladder dysfunction, Leukodystrophy, Auton... OMIM:169500
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Demyelinating peri... OMIM:618404
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607250
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal peripheral action p... ORPHA:457205
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:99948
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Decreased liver function, Leukodystrophy, Failure to thrive, Peripheral demyelination OMIM:614877
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination, Decreased body weight OMIM:617672
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... OMIM:218000
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:101077
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Peripheral demyelination OMIM:616733
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... OMIM:232700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Motor axonal neuropathy OMIM:620068
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Leukodystrophy OMIM:619851
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Peripheral demyelination OMIM:205400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:162400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:302800
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased amplitu... ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, A... OMIM:614436
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen... OMIM:609136
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:250100
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
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
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at... OMIM:608804
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Roussy-Lévy Syndrome
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity ORPHA:3115
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Axonal loss, Decreased amplitude of sensory action potentials ORPHA:85446
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ... ORPHA:206448
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy, Demyelinating peripheral neuropathy OMIM:612674
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Delayed myelination, Symmetrical progressive peripheral demyelination... OMIM:231670
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination ORPHA:319514
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Sulfite oxidase deficiency,... OMIM:252150
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Elevated circulating aspartate aminotransferase concentration, Decreased number of large peripher... OMIM:271245
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials ORPHA:98755
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:270550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:435387
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis OMIM:256600
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... OMIM:256850
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... OMIM:604320
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Multiple Sulfatase Deficiency
Splenomegaly, CNS demyelination, Peripheral demyelination, Hepatomegaly OMIM:272200
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss OMIM:118300
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Peripheral axonal neuropathy, Cachexia, Decreased number of large ... ORPHA:298
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Acute hepatic failure, Hepatomegaly, Fail... OMIM:256810
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormal CNS... ORPHA:206443
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph... ORPHA:1187
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia OMIM:260565
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Molybdenum cofactor deficiency, Gliosis, Peripheral demyelination OMIM:252160
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Cerebellar gliosis, Optic atrophy, Abnormal autonomic nervous syste... ORPHA:35069
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Sensory ax... OMIM:618733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Obesity OMIM:604360
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Severe demyelination of the white matter, Jaundice, Optic atrophy, Failure to thriv... ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Optic Atrophy 11
Delayed CNS myelination, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facia... OMIM:617302
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Segmental peripheral demyelination/remyelination, Abnormality of... ORPHA:255210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy OMIM:610651
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... OMIM:256840
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309256
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Abnormal myelination ORPHA:289266
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... ORPHA:88628
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia, CNS hypomyelination OMIM:618186
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy ORPHA:309263
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia ORPHA:565624
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Overweight, Jaundice, Delayed myelination, Neurofibroma, Obesity, ... OMIM:619475
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop... ORPHA:254930
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... OMIM:601152
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Delayed peripheral myelination ORPHA:464282
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Gliosis, Hyperglycemia... OMIM:220111
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreased nerve conduct... ORPHA:909
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Optic ... ORPHA:309271
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis ORPHA:600
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Motor axonal neuropathy, Decreased amplitude of sens... ORPHA:36386
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... OMIM:164400
Non-Specific Early-Onset Epileptic Encephalopathy
EEG with multifocal slow activity, Optic atrophy, Hypsarrhythmia, Abnormal myelination ORPHA:442835
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Gliosis, Abnormal myelination ORPHA:280210
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atrophy ORPHA:206436
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination OMIM:261515
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:90658
Cockayne Syndrome B
Hepatomegaly, Failure to thrive, Small for gestational age, Abnormal peripheral myelination, Sple... OMIM:133540
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Axonal loss, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p... OMIM:614575
Cockayne Syndrome A
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:216400
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Decreased distal sensory nerve action potential, Optic atrophy ORPHA:99956
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Acute demyelinating polyneuropathy, EEG ... ORPHA:79138
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Astrocytosi... ORPHA:90324
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:90321
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... ORPHA:456312
Cockayne Syndrome
Optic disc pallor, Peripheral axonal neuropathy, Cerebral dysmyelination, Decreased nerve conduct... ORPHA:191
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy ORPHA:95
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Bohring-Opitz Syndrome
Failure to thrive, Delayed peripheral myelination, Hyperechogenic pancreas OMIM:605039
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ... ORPHA:79139
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Congenital Disorder Of Deglycosylation 1
Delayed CNS myelination, Decreased sensory nerve conduction velocity, Gliosis, Delayed myelination OMIM:615273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension OMIM:223900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chronic axonal neuropathy OMIM:606002
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... ORPHA:2388
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Delayed peripheral myelination ORPHA:364577
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Delayed myelination, Optic atrophy, EEG abnormality, Axonal loss, Gliosis, Abn... ORPHA:404454
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Monosomy 18Q
Abnormal myelination ORPHA:1600
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Abnormality of peripheral nerve conduction, Orthosta... ORPHA:642
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity ORPHA:285
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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