Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... |
OMIM:118200 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... |
OMIM:180800 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Neuromyelitis Optica Spectrum Disorder |
|
Optic neuritis, Peripheral demyelination, Myelitis |
ORPHA:71211 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... |
OMIM:605588 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Increased circulating IgG lev... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination |
OMIM:611228 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... |
OMIM:607706 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:604563 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis |
OMIM:610551 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... |
OMIM:609260 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation |
OMIM:618184 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:249900 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r... |
OMIM:600882 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy |
ORPHA:99953 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Axonal degeneration, Peripheral hypomyelination, Peripheral demye... |
OMIM:604168 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Krabbe Disease |
|
CNS demyelination, Optic atrophy, Peripheral demyelination |
OMIM:245200 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Peripheral demyelination |
OMIM:617672 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Peripheral demyelination |
OMIM:221770 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... |
OMIM:240500 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Peripheral demyelination, Leukodystrophy |
OMIM:614877 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis |
OMIM:613796 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Onion bulb formation, Facial palsy |
OMIM:607684 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601455 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation |
OMIM:615284 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Peripheral demyelination |
OMIM:609033 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:607250 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:614116 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... |
ORPHA:277 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination, Cholecystitis |
OMIM:250100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Bronchiectasis, Recurrent sinusitis, Recur... |
OMIM:300853 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Abnormal optic... |
ORPHA:448237 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Onion bulb formation, Decreased number of pe... |
OMIM:302800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ... |
OMIM:162400 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... |
OMIM:209920 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... |
OMIM:308240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... |
OMIM:256850 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma... |
OMIM:218000 |
Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination |
ORPHA:206448 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Peripheral hypomyelination, Myelin outfol... |
OMIM:609136 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:99948 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... |
OMIM:271245 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,... |
OMIM:307200 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination |
ORPHA:168563 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation |
OMIM:614487 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration |
ORPHA:90103 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Peripheral demyelination |
OMIM:252160 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Lack of T cell funct... |
ORPHA:572 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Peripheral demyelination |
OMIM:252150 |
Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter |
ORPHA:79282 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... |
OMIM:208920 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... |
OMIM:270550 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... |
ORPHA:254930 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Recurrent otitis media, Cu... |
OMIM:600802 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Osteomyelitis, Delayed myelination, Neurofibroma, Leukodystrophy, Otitis media, Peripheral demyel... |
OMIM:619475 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... |
ORPHA:298 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced delayed hypersensitivity, Eczematoid derma... |
OMIM:242700 |
Nipah Virus Disease |
|
Infectious encephalitis |
ORPHA:99825 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Atopic dermatitis, Abnormal myelination, Mixed demyelinating and... |
ORPHA:466768 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Reduced natural killer cell activity, Decreased circulating a... |
ORPHA:540 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Delayed CNS myelination, Eosinophilic infiltration of the esophagus, Perianal abscess, Increased ... |
OMIM:618213 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:201300 |
East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination |
ORPHA:255210 |
Lyme Disease |
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Arthritis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Charcot-Marie-Tooth Disease Type 1F |
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Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... |
ORPHA:101085 |
Scrub Typhus |
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Skin rash, Anterior uveitis, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
Legionnaires Disease |
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Pericarditis, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellularity, Infectious encep... |
ORPHA:549 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
Typhoid |
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Skin rash, Infectious encephalitis |
ORPHA:99745 |
Bacterial Toxic-Shock Syndrome |
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Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Pneumonia, Impaired T cell function, Decreased lymphocyte proliferation in response to... |
OMIM:613179 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:256800 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Inflammation of the large intestine, Optic... |
OMIM:614576 |
Cerebral Visual Impairment |
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Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Increased cup-to-disc ratio, Infectious... |
ORPHA:447788 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... |
ORPHA:83471 |
Meningococcal Meningitis |
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Skin rash, Papilledema, Infectious encephalitis |
ORPHA:33475 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Skin rash, CNS demyelination, Infectious encephalitis, Reduced natural killer cell activity |
OMIM:603553 |
American Trypanosomiasis |
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Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
Reynolds Syndrome |
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Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Microsporidiosis |
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Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Q Fever |
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Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... |
ORPHA:781 |
Neuromuscular Oculoauditory Syndrome |
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Sensory axonal neuropathy, Peripheral hypomyelination |
OMIM:618733 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers |
ORPHA:477817 |
Hartnup Disease |
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Skin rash, Infectious encephalitis |
ORPHA:2116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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CNS demyelination, Peripheral demyelination |
OMIM:220111 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Infectious encephalitis |
ORPHA:1194 |
Whipple Disease |
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Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
New-Onset Refractory Status Epilepticus |
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Infectious encephalitis |
ORPHA:363558 |
Avian Influenza |
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Pneumonia, Hepatitis, Conjunctivitis, Infectious encephalitis, Myelitis |
ORPHA:454836 |
Charcot-Marie-Tooth Disease Type 4C |
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Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin... |
ORPHA:99949 |
Cockayne Syndrome B |
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Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... |
OMIM:133540 |
Cockayne Syndrome A |
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Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... |
OMIM:216400 |
Brucellosis |
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Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
Congenital Enterovirus Infection |
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Skin rash, Myocarditis, Infectious encephalitis, Hepatitis |
ORPHA:292 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Peripheral hypomyelination, Chronic axonal neuropathy |
OMIM:612780 |
Wiskott-Aldrich Syndrome |
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Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni... |
OMIM:301000 |
Rift Valley Fever |
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Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:319251 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Abnormal lymphocyte physiology, Minimal change glomerulonephritis, Bone... |
ORPHA:1830 |
Zygomycosis |
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Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
Gm1 Gangliosidosis |
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Optic atrophy, Infectious encephalitis, Aspiration pneumonia |
ORPHA:354 |
Neurocutaneous Melanocytosis |
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Infectious encephalitis |
ORPHA:2481 |
Chikungunya |
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Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Crusting eryt... |
ORPHA:324625 |
Immunoglobulin A Vasculitis |
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Episcleritis, Skin rash, Pustule, Orchitis, Optic atrophy, Arthritis, Infectious encephalitis |
ORPHA:761 |
Bohring-Opitz Syndrome |
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Delayed peripheral myelination |
OMIM:605039 |
Listeriosis |
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Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... |
ORPHA:533 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Decreased number of peripheral myelinated nerve fibers, Osteomyelitis leading to amputation due t... |
OMIM:256810 |
Japanese Encephalitis |
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Increased circulating IgM level, Infectious encephalitis, Facial palsy, Increased circulating ant... |
ORPHA:79139 |
Nocardiosis |
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Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... |
ORPHA:31204 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Myelin outfoldings, Optic atrophy |
ORPHA:99956 |
Behçet Disease |
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Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Optic neuropathy, Iridocyclitis, Bronchiectasis, Uveitis, Arthr... |
OMIM:181000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
Cysticercosis |
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Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
Poliomyelitis |
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Infectious encephalitis, Myelitis |
ORPHA:2912 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... |
ORPHA:391487 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Infectious encephalitis |
OMIM:267700 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Delayed peripheral myelination |
ORPHA:364577 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Optic atrophy, Infectious encephalitis |
ORPHA:847 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Incontinentia Pigmenti |
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Keratitis, Infectious encephalitis, Uveitis, Skin rash |
ORPHA:464 |
Amoebiasis Due To Free-Living Amoebae |
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Sinusitis, Pneumonia, Facial palsy, Pustule, Infectious encephalitis |
ORPHA:68 |
Alexander Disease |
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Infectious encephalitis, Facial palsy |
ORPHA:58 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Arthritis, Peripheral axonal neuropathy |
ORPHA:2388 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Acne, Impaired T cell function, Seborrheic dermatitis, Optic atrophy, Arthritis, Chronic otitis m... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Infectious encephalitis, Ganglioneuroma |
ORPHA:293987 |
Digeorge Syndrome |
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Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Recurrent sinusitis, ... |
OMIM:188400 |
Spondyloarthropathy, Susceptibility To, 1 |
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Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Takayasu Arteritis |
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Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis |
ORPHA:3287 |
Psoriasis 1, Susceptibility To |
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Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Birdshot Chorioretinopathy |
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Optic disc pallor, Inflammatory abnormality of the eye |
ORPHA:179 |
Reactive Arthritis |
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Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
Giant Cell Arteritis |
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Arthritis, Pericarditis, Optic atrophy |
ORPHA:397 |
Stevens-Johnson Syndrome |
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Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Asthma, Susceptibility To |
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OMIM:600807 |