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Gene: Etv1 MGI:99254

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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:
ets variant 1
Synonyms:
ER81,  Etsrp81

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 Etv1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Etv1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased compound muscle action potential a... OMIM:619112
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign... ORPHA:431329
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Unsteady ... ORPHA:2932
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:302801
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... OMIM:183050
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... OMIM:618912
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... OMIM:608323
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... OMIM:613641
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:605589
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Spasticity, Di... OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Thenar ... OMIM:620111
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F... OMIM:615575
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... OMIM:615625
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Babinski sign, Spastic paraplegia, Dysdiadochokin... ORPHA:101007
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor function, Difficul... ORPHA:101001
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr... ORPHA:101078
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... OMIM:606595
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... OMIM:614751
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Hypoesthesia, Vocal cord paralys... OMIM:162500
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Se... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal sensory impairment, Decreased amplitude of sensory action potentials OMIM:608673
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... OMIM:302802
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... OMIM:609311
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Progressive spasti... ORPHA:280234
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... OMIM:270685
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal amyotrophy... OMIM:610100
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps muscle weak... ORPHA:99948
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Decreased nerve conduction velocity, Inability to walk, Upper limb m... ORPHA:99939
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... ORPHA:99944
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Intrinsic hand muscle atrophy,... ORPHA:90103
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... OMIM:609260
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphragmatic paralysis ORPHA:868
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Distal amyotr... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P... ORPHA:101097
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Flexion contractur... OMIM:618404
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibration sensation in the l... OMIM:159550
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... OMIM:600882
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... OMIM:614895
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Impaired proprioception, Dysmetr... ORPHA:98755
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1188
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory... ORPHA:99953
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Spastic paraplegia, B... ORPHA:139578
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Sensory at... OMIM:618184
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... OMIM:614436
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Ataxia, Impaired distal ... OMIM:607250
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... OMIM:603516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Upper li... OMIM:615284
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:605588
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:608895
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Babinski sign, Optic at... OMIM:612674
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Distal amyotrophy, Gait disturbance, Impaired di... OMIM:618400
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:605253
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Optic disc pallor, Tibia... ORPHA:101076
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... ORPHA:99950
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Skelet... ORPHA:101082
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Incoordination, Hand mus... OMIM:302800
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia ORPHA:228169
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Toe extensor amyotrophy, Pelvic g... ORPHA:98856
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe... OMIM:270550
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... ORPHA:329478
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Diaphragmatic pa... OMIM:614399
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Tremor, Distal sensory impairment OMIM:607734
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Head tremor... OMIM:613724
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Dysesthesia, Tetraplegia, Abnormal tendon morphology, Macrog... ORPHA:85446
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Abnormal pyramidal sign, Dysmetria, Parest... ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis OMIM:614932
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Camptodactyly of finger ORPHA:2928
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... OMIM:618356
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:607831
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:118220
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Spastic paraplegia, Bab... OMIM:256840
Multifocal Motor Neuropathy
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block, Fascicula... ORPHA:641
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Broad-bas... OMIM:145900
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:604563
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin... OMIM:608804
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Peroneal muscle atrophy, Impaired temperature sensatio... ORPHA:90658
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:118200
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... OMIM:618323
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Vocal cord par... ORPHA:397744
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Broad-based gait, Decreased muscle mass, Inability to ... OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Incoordination, Ataxia, Flexion contracture, Babinski sign, Dysmetria, Gait at... OMIM:616204
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Broad-based gait, Ataxia, Optic atrophy, ... OMIM:609033
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Abnormal pyramidal sig... OMIM:256600
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... OMIM:610532
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impaired propriocept... ORPHA:88628
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Inability to walk by childhood/adolescence, Distal sen... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment OMIM:600223
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... ORPHA:36386
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound... OMIM:602433
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1933
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Inability to walk, Chorea, Babins... ORPHA:95
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi... OMIM:245200
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb... OMIM:229300
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin... ORPHA:320375
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Babinski sign, Sensory ataxia, Gait ataxia, Decreased ... OMIM:616192
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... ORPHA:309256
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG... ORPHA:812
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Small thenar emin... OMIM:620080
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Optic atrophy, ... OMIM:601152
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Positive Rombe... OMIM:614575
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign ORPHA:93476
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abnormal pyram... ORPHA:280219
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with focal sharp waves, Dysmetri... OMIM:617302
Infantile Neuroaxonal Dystrophy
Ataxia, Spastic tetraparesis, Flexion contracture, Optic atrophy, Unsteady gait, Abnormal pyramid... ORPHA:35069
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vibration sensation, I... OMIM:606002
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... ORPHA:309271
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic atrophy, Abnormal pyram... OMIM:615419
Ataxia With Vitamin E Deficiency
Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebel... OMIM:277460
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Flexion contracture, Tongue fasciculations OMIM:619851
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... OMIM:615368
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomyolysis, Chorea, Babinski sign OMIM:604168
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, Tetraplegia, EEG with focal epi... ORPHA:1187
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Flexion contracture, Spastic paraplegia, Increased var... OMIM:619026
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis ORPHA:93474
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr... OMIM:618733
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Frequent falls, Impaired pain sensation, Inability to ... ORPHA:99949
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... OMIM:616652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerve conduction ORPHA:168563
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia OMIM:614863
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Nystagmus, Hereditary Vertical
Ataxia OMIM:164150
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:610651
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Foot join... ORPHA:456312
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... ORPHA:298
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Babinski sign, Impa... ORPHA:79138
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to walk, Flexion cont... OMIM:615663
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Babinski ... OMIM:618186
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Distal amyotroph... ORPHA:909
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrop... ORPHA:477817
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Foot joint contracture, Tremo... ORPHA:90321
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Weakness due to upper motor n... ORPHA:79139
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Foot dorsiflexor weakness OMIM:214500
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Ataxia, Babinski sign, Abnormality of peripheral ne... OMIM:601992
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Macroglossia, Spastic parapares... ORPHA:93473
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Ataxia, Parkinsonism, Decreased nerve conduction velocity, Inability... ORPHA:167
Cockayne Syndrome
Skeletal muscle atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Neurogenic bladd... ORPHA:191
Wilson Disease
Poor motor coordination, Decreased nerve conduction velocity, Hypoesthesia, Tremor, Rigidity, Han... OMIM:277900
Cockayne Syndrome A
Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... OMIM:216400
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Intrinsic hand muscle atroph... OMIM:615273
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Neurogenic bladder, Unsteady gait, Flexion contractur... ORPHA:90324
Cockayne Syndrome B
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, Optic a... OMIM:133540
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Decreased muscle mass OMIM:261515
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunc... ORPHA:642
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Loss of ambulation, Decreased ... ORPHA:2388
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Optic atrophy, Macroglossia, Contractures of th... ORPHA:580
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Parest... ORPHA:285

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 Etv1

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 Etv1.

No publications found that use IMPC mice or data for Etv1.

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MGI Allele Allele Type Produced
Etv1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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