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Gene: Ermn MGI:1925017

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Gene Summary

Name:
ermin, ERM-like protein
Synonyms:
A330104H05Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Ermnem1(IMPC)H HOM   Early adult 1.24×10-05
increased blood urea nitrogen level Ermnem1(IMPC)H HOM Early adult 1.60×10-05

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Ermn 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 Ermn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
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 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Onion bulb formation, Peripheral demye... OMIM:620378
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of p... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axonal re... OMIM:608323
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment ORPHA:99944
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Acute demye... ORPHA:101081
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Axonal regenera... OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop... ORPHA:99953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... OMIM:618279
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Onion bulb formation... OMIM:606483
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Decreased ... ORPHA:101097
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:605285
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased number of peri... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Acute demyelinating polyneuropathy, Gait ataxia ORPHA:98916
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... ORPHA:101082
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607731
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Somatic sensory dysfunction OMIM:612577
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination, Gait ataxia OMIM:249900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination, Distal sen... OMIM:311070
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Decr... ORPHA:99939
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Distal sensory impai... OMIM:613641
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:608895
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased nerve conduction velocity, Impaired pain sensation, Dec... ORPHA:99948
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment OMIM:606595
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... OMIM:614436
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Distal sensory imp... OMIM:615284
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... ORPHA:352675
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:600361
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Impaired pain sensation ORPHA:101078
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Abnormal motor nerve co... OMIM:618404
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Axonal... OMIM:604168
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ... ORPHA:217260
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... ORPHA:3115
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Impaired proprioception, ... OMIM:609033
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Impaired pain sensation, Decreased nerve conduction velocity, Impai... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Abolished vibration sense, Motor axonal n... OMIM:620068
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ... OMIM:615035
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
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
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Gliosis, Autonomic bladder dysfunction, Leukodystroph... OMIM:169500
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Impaired pain sensation ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy OMIM:614932
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Distal sen... ORPHA:101111
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct... ORPHA:101077
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys... OMIM:159550
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... OMIM:245200
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory impairment,... OMIM:612674
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... ORPHA:221091
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:302802
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Peripheral demyelination ORPHA:71211
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... OMIM:604484
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Distal sensory impairment OMIM:616287
Pelizaeus-Merzbacher Disease
Ataxia, Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic... OMIM:312080
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... ORPHA:99950
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Dysesthesia, Axonal loss, Paresthesia, Decreased amplitude o... ORPHA:85446
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Axonal loss, Gliosis, Peripheral demyelination OMIM:221770
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Ataxia, Impaired pain sensation ORPHA:99014
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Ataxia, Peripheral demyelination, Axonal loss OMIM:617672
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... OMIM:218000
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D... ORPHA:101085
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... OMIM:616688
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, CNS demyelination, Gliosis OMIM:618328
Peroxisome Biogenesis Disorder 8B
Ataxia, Dysesthesia, Optic atrophy, Dysmetria, Gait ataxia, Leukodystrophy, Peripheral demyelination OMIM:614877
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ... OMIM:608804
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:302800
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Impai... OMIM:270685
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia OMIM:619862
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Ataxia OMIM:256600
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... OMIM:603472
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Peripheral demyelination OMIM:250100
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Impaired distal ta... OMIM:618400
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss, Distal sensory impairment OMIM:118300
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... OMIM:164400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... OMIM:619519
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Gait atax... OMIM:603516
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Tangier Disease
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... OMIM:205400
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac... ORPHA:206448
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Gliosis, Ataxia, Severe demyelination of the white matter OMIM:236792
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation OMIM:613724
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity ORPHA:276435
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Leukodystrophy OMIM:619851
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis ORPHA:319514
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Axonal loss, Gliosis OMIM:300857
Spinocerebellar Ataxia Type 1
Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dysdiad... ORPHA:98755
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... OMIM:238970
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation, Distal sensory impairment OMIM:614455
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Dysdiadochokinesis, Ataxia, Dysmetria OMIM:618356
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Somatic sensory dysfunction, Abnormality of the s... ORPHA:90117
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Impaired pain sensation ORPHA:2926
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... OMIM:229300
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity, Distal sensory impairment ORPHA:100998
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib... OMIM:208920
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Paresthesia, Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Abolished vibration sense, Ataxia, Impair... OMIM:608703
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... OMIM:256840
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... OMIM:601152
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation OMIM:614487
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Sensory a... OMIM:616192
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Chorea, Dysmetria, Gait ataxia, Peripheral demyelination ORPHA:397946
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Huntington Disease
Chorea, Gliosis, Gait ataxia OMIM:143100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia ORPHA:1933
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, Degener... OMIM:604320
Immunodeficiency 83, Susceptibility To Viral Infections
EEG abnormality, Gliosis OMIM:613002
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp wave... OMIM:617302
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Axonal loss, P... OMIM:614575
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... ORPHA:298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:604360
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Distal sensory impairment, ... OMIM:256850
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chorea, Impaired distal ... OMIM:606002
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Charcot-Marie-Tooth Disease Type 1E
Impaired temperature sensation, Decreased nerve conduction velocity, Impaired vibration sensation... ORPHA:90658
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Gliosis OMIM:213200
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Leukody... ORPHA:309256
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:614116
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Abnormal lower motor neuron morphology, Distal sensory impai... OMIM:606070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, S... OMIM:271245
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Distal sensory impairme... OMIM:616652
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia OMIM:610651
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality, Ataxia ORPHA:812
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Friedreich Ataxia
Decreased motor nerve conduction velocity, Chorea, Optic atrophy, Impaired proprioception, Dysmet... ORPHA:95
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Gliosis OMIM:614959
Multiple Sulfatase Deficiency
CNS demyelination, Ataxia, Peripheral demyelination OMIM:272200
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Peripheral hypomyelination, Sensory axonal neuropathy, Decre... OMIM:618733
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Distal sensory impairment, Decreased sensory nerve conduction ve... ORPHA:320375
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Decreased compound muscle... OMIM:602433
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Spinocerebellar Ataxia 17
Ataxia, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Gliosis OMIM:607136
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:619026
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy ORPHA:309263
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Distal sensory impairment, Trophic changes re... ORPHA:36386
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Somatic sensory dysfunction, Gliosis OMIM:221820
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Ataxia, Cerebellar gliosis, Optic atrophy, Diffuse axonal swelling,... ORPHA:35069
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Dist... ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Leukodystrop... ORPHA:309271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor, Hypsarrhythmia ORPHA:565624
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Distal sensory im... ORPHA:101076
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Optic atrophy, Gliosis OMIM:603896
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia ORPHA:329478
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Distal sensory impairment OMIM:604218
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Opti... ORPHA:909
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Gliosis, Peripheral demyelination OMIM:252160
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia OMIM:260565
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:614863
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Gliosis, Peripheral demyelination OMIM:252150
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... ORPHA:79138
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, EEG with burst suppression, Diffuse demyelination of the cerebral ... ORPHA:168486
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Facial diplegia, CNS hypomyelination OMIM:618186
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal sensory impairment ORPHA:600
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Glutaric Acidemia I
Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Optic atrophy, Peripheral demyelination, Dysmetria ORPHA:171629
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... ORPHA:254930
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93476
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Astrocytosis, Hypsarrhythmia ORPHA:204
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Gliosis, Gait ataxia OMIM:618369
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Leigh Syndrome
CNS demyelination, Optic atrophy, Gliosis, Ataxia OMIM:256000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... ORPHA:456312
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Delayed peripheral myelination ORPHA:464282
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Ataxia, Severe demyelination of the white matter ORPHA:79282
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, EEG with burst suppression, Optic atrophy, Gliosis, Abnormal autonomic n... OMIM:614498
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Dem... ORPHA:255210
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination OMIM:261515
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:203800
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Cockayne Syndrome A
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:216400
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
East Syndrome
Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination ORPHA:199343
Machado-Joseph Disease
Impaired vibratory sensation, Ataxia, Limb ataxia, Progressive cerebellar ataxia, Gliosis, Abnorm... OMIM:109150
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Ataxia, Gliosis, Abnormal myelination ORPHA:280210
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615663
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Delayed myelination, Neurofibroma, Multifocal epileptiform discharges, Hypsarrhythmia, EE... OMIM:619475
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Cockayne Syndrome
Optic disc pallor, Somatic sensory dysfunction, Peripheral axonal neuropathy, Ataxia, Cerebral dy... ORPHA:191
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia OMIM:214500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Delayed CNS myelination, Chorea, Delayed myelination, Dysmetria, Athetosis, G... OMIM:615273
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration ORPHA:444490
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Optic atrophy, Distal sensory impairment, Parest... ORPHA:99956
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Dysmetria, Gliosis, Truncal ataxia, CNS demyelination, Peripheral demyelination OMIM:220111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote... OMIM:256800
Pontocerebellar Hypoplasia, Type 2A
Chorea, Optic atrophy, Gliosis OMIM:277470
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Scheie Syndrome
Abnormal nerve conduction velocity ORPHA:93474
Wilson Disease
Decreased nerve conduction velocity, Hypoesthesia, Mixed demyelinating and axonal polyneuropathy OMIM:277900
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Somatic sensory dysfunction, Ataxia ORPHA:167
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, EEG with burst suppression, Choreoatheto... ORPHA:79139
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Ataxia ORPHA:512
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Dysdiadochokinesis, Ataxia, Chronic axonal neuropathy OMIM:612780
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
H Syndrome
Hypertriglyceridemia ORPHA:168569
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude OMIM:620080
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Poliomyelitis
Paresthesia, Abnormal motor nerve conduction velocity ORPHA:2912
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Ataxia, Distal sensor... OMIM:256810
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Hurler Syndrome
Abnormal nerve conduction velocity ORPHA:93473
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Astrocytosis, Abnormality of peripheral nerve co... ORPHA:90324
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Friedreich Ataxia 2
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction OMIM:601992
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Hyperaldosteronism, Increased circulating cortisol level, Paradoxical increased c... ORPHA:189427
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunc... ORPHA:642
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Choreoacanthocytosis
Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Peripheral ... ORPHA:2388
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction ORPHA:79102
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia ORPHA:64
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Ermn

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 Ermn.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ermntm300393(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ermnem1(IMPC)H Indel Mice
Ermnem2(IMPC)H Indel Mice

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