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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
Decreased motor nerve conduction velocity, Axonal degeneration, Decreased number of peripheral my... 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, Peripheral demyelination, Onion bulb formation OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Clusters of axonal regeneration, Decreased number of p... OMIM:607734
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... OMIM:611228
Null Syndrome
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... ORPHA:280234
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... OMIM:162500
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:118210
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Decreased sensory nerve conduction velocity, Decreased motor nerve conductio... OMIM:608323
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:118220
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin... OMIM:614895
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
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:145900
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral axonal neuropathy... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... OMIM:601596
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... OMIM:609260
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Decreased moto... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... OMIM:604563
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
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, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:600882
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis, EEG abnormality, Axona... OMIM:221770
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:99939
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ... OMIM:245200
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Acute dem... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Axonal degeneration, Periphe... OMIM:604168
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... OMIM:607684
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
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, Onion bulb formation, Myelin outfoldings OMIM:615284
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Axonal loss, Segmental ... OMIM:601455
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfuncti... 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
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Glios... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased number of peri... OMIM:607250
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Chronic axonal neuropathy, Motor conduction block, Demyelina... ORPHA:99948
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:613287
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Decreased liver function, Leukodystrophy, Peripheral demyelination OMIM:614877
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination, Decreased body weight OMIM:617672
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity OMIM:605726
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral... ORPHA:101077
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606595
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:600361
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination OMIM:609033
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity 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
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Axonal degeneration, Dec... OMIM:615490
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
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
Axonal loss, Decreased motor nerve conduction velocity, Motor axonal neuropathy OMIM:620068
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Tangier Disease
Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Hepatomegaly OMIM:205400
Leukodystrophy, Hypomyelinating, 24
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:619851
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased motor nerve con... OMIM:162400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Axonal degeneration, Decreased number of peripheral my... OMIM:302800
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... ORPHA:99950
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, CNS demyeli... ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... OMIM:620357
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Congenital Myopathy 10A, Severe Variant
Abnormal motor nerve conduction velocity, Facial palsy OMIM:614399
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrop... OMIM:608804
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Peripheral hypomyelination ORPHA:48431
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:612674
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy ORPHA:3115
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Glutaric Acidemia I
Failure to thrive, Hypoglycemia, Symmetrical progressive peripheral demyelination, Hepatomegaly, ... OMIM:231670
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination ORPHA:319514
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Molybdenum Cofactor Deficiency, Type A
Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Peripheral demyelination, Reduced xanthi... OMIM:252150
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Elevated circulating aspartate aminotransferase concent... OMIM:271245
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology ORPHA:90117
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number... OMIM:270550
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor... ORPHA:98755
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Multiple Sulfatase Deficiency
Hepatomegaly, Peripheral demyelination, CNS demyelination, Splenomegaly OMIM:272200
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Gliosis, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia OMIM:260565
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Charcot-Marie-Tooth Disease And Deafness
Axonal loss, Decreased motor nerve conduction velocity OMIM:118300
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ... ORPHA:101085
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Failure to thrive, Hypoglycemia, Recur... OMIM:256810
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Peripheral axonal neuropathy, Cachexia, ... ORPHA:298
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... ORPHA:1187
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... OMIM:613812
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Abnormal... ORPHA:35069
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination, Molybdenum cofactor deficiency, Gliosis OMIM:252160
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, EEG abnormality OMIM:182290
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:603472
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Sensory axonal neuropathy, Decreased amplitude of sensory ac... OMIM:618733
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Decreased number of peripheral myelinated nerve fibers OMIM:604360
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation ORPHA:320375
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Peripheral axonal neuropathy, Decreased compound muscle action potential amplitude, Motor axonal ... OMIM:620528
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... ORPHA:309256
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Delayed CNS myelination, Decreased se... OMIM:617302
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Failure to thrive, Hypoglycemia, Peripheral demyelination, Jaundice, Severe demyel... ORPHA:79282
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hepatic failure, Failure to thrive, Abnormality of Krebs cycle metabolism, Demyeli... ORPHA:255210
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... ORPHA:309263
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity OMIM:618356
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic... OMIM:601152
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve co... ORPHA:466768
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:256840
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:619026
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory nerve conduction veloci... ORPHA:88628
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618186
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Failure to thrive, Facial diplegia, Decreased number of peripheral myelinated nerv... ORPHA:254930
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Neurofibroma, Failure to thrive, Leukody... OMIM:619475
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity ORPHA:565624
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Delayed peripheral myelination ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Peripheral demyelination, Microvesicular hepatic ... OMIM:220111
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Orthostatic hypotension due t... ORPHA:309271
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Lethal Congenital Contracture Syndrome 5
EEG with burst suppression, Decreased nerve conduction velocity OMIM:615368
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
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
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Abnormality of visual ... ORPHA:206436
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, Mo... ORPHA:36386
Spinocerebellar Ataxia 1
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... OMIM:164400
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Gliosis ORPHA:280210
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormal myelination, Hypsarrhythmia, EEG with multifocal slow activity ORPHA:442835
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:229300
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Decreased number of p... ORPHA:99949
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination OMIM:261515
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy ORPHA:90658
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:216400
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
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy ORPHA:101076
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity OMIM:616192
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Cockayne Syndrome Type 3
Astrocytosis, Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Demyelina... ORPHA:90324
Bickerstaff Brainstem Encephalitis
Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous... ORPHA:79138
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity OMIM:614863
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615663
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction ORPHA:90321
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Axonal loss, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p... OMIM:614575
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
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Gliosis, Demyel... ORPHA:191
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc... ORPHA:456312
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy ORPHA:95
Poliomyelitis
Abnormal motor nerve conduction velocity ORPHA:2912
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Failure to thrive, Delayed peripheral myelination OMIM:605039
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, EEG abnormality, Intericta... ORPHA:79139
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension OMIM:223900
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Delayed CNS myelination, Delayed myelination, Gliosis OMIM:615273
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials OMIM:608984
Chediak-Higashi Syndrome
Decreased nerve conduction velocity OMIM:214500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606002
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Wilson Disease
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Choreoacanthocytosis
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... ORPHA:2388
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity ORPHA:167
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Delayed peripheral myelination ORPHA:364577
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, EEG abnormality, Gliosis, Axonal loss, Optic disc pallor, Abnormal myelination, De... ORPHA:404454
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential OMIM:606071
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Abnormal myelination, Hypsarrhythmia, Gliosis OMIM:620371
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Monosomy 18Q
Abnormal myelination ORPHA:1600
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... ORPHA:642
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

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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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