Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination, Optic neuritis |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... |
ORPHA:208981 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:180800 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... |
ORPHA:206594 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
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 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Myelitis, Optic neuritis |
ORPHA:71211 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal at... |
OMIM:600882 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:607706 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... |
OMIM:601455 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis |
OMIM:616098 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis |
OMIM:614850 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis |
OMIM:614892 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Infectious encephalitis |
OMIM:616532 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis |
OMIM:610551 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:252320 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers |
ORPHA:497764 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:245200 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... |
OMIM:604168 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation |
OMIM:614493 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Peripheral demyelination, Axonal loss |
OMIM:617672 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Peripheral demyelination |
OMIM:618237 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Immunodeficiency 66 |
|
Recurrent skin infections, Defective T cell proliferation, Pustule |
OMIM:618847 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:101082 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased c... |
OMIM:607594 |
Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination |
OMIM:617731 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Peripheral demyelination, Axonal loss |
OMIM:221770 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... |
OMIM:618982 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythematosus, Autoimmune hemolytic anemia |
ORPHA:444463 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... |
OMIM:240500 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Tangier Disease |
|
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy |
OMIM:205400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:162400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, CNS demyelination |
OMIM:220111 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
Trigeminal Neuralgia |
|
Peripheral demyelination, Cranial nerve compression, CNS demyelination |
ORPHA:221091 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Peripheral demyelination, Optic atrophy |
OMIM:609033 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Peripheral hyp... |
OMIM:609136 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:614116 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus |
ORPHA:411593 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Cholecystitis |
OMIM:250100 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Antinuclear antibody positivity, Rheumatoid arthritis |
OMIM:178610 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Decreased number... |
ORPHA:90103 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... |
ORPHA:277 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... |
OMIM:608720 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... |
OMIM:308240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... |
OMIM:218000 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Cutaneous anergy, Chronic mucocutaneous... |
OMIM:209920 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Symmetric peripheral demyelination |
OMIM:169500 |
Charcot-Marie-Tooth Disease Type 4A |
|
Motor conduction block, Decreased number of large peripheral myelinated nerve fibers, Decreased n... |
ORPHA:99948 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent otitis media, Decrease... |
OMIM:300853 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Facial palsy, Se... |
OMIM:256850 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circula... |
OMIM:308230 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, Decreased motor nerve conduction velocity |
OMIM:610532 |
Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:272200 |
Pemphigus Erythematosus |
|
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... |
ORPHA:79480 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... |
ORPHA:320406 |
Zika Virus Disease |
|
Infectious encephalitis, Abnormality of the optic disc, Arthritis, Increased circulating IgM leve... |
ORPHA:448237 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... |
OMIM:307200 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerves, Abnormality of peripheral nerve conduction, Abnormal peripheral... |
ORPHA:168563 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... |
OMIM:270550 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis leading to amputation due t... |
OMIM:256810 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Peripheral demyelination, Axonal loss |
OMIM:252160 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:231154 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... |
OMIM:201300 |
Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Lack of T cell function, Rhinitis, Decreased circulating antibody level, Decreased lym... |
ORPHA:572 |
Pfapa Syndrome |
|
Infectious encephalitis, Arthritis |
ORPHA:42642 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Peripheral demyelination, Axonal loss |
OMIM:252150 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter, Stomatitis |
ORPHA:79282 |
Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy |
OMIM:260565 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... |
ORPHA:298 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... |
OMIM:208920 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:48377 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... |
OMIM:618131 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... |
ORPHA:35078 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... |
OMIM:601859 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... |
OMIM:600802 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Reduced delayed hypersensitivity, Recurrent pneu... |
OMIM:242700 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Atopic dermatitis, Abnormal peripheral myelination, Abnormal myelination, Decreased distal sensor... |
ORPHA:466768 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neurop... |
ORPHA:254930 |
Aspergillosis |
|
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... |
ORPHA:1163 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Nipah Virus Disease |
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Infectious encephalitis |
ORPHA:99825 |
Familial Hemophagocytic Lymphohistiocytosis |
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Infectious encephalitis, Erythroderma, Reduced natural killer cell activity, Decreased circulatin... |
ORPHA:540 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... |
OMIM:603909 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Onion bulb formation, Decreased sensory nerve conduction velocity, Optic neuropathy, Optic atrophy |
ORPHA:320375 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Peripheral demyelination, Leukodystrophy, Osteomyelitis, Otitis media, Delayed myelination, Neuro... |
OMIM:619475 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased number of large peripheral myelinated nerve fibers, Optic nerve hypoplasia, Decreased n... |
ORPHA:101085 |
Lyme Disease |
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Uveitis, Infectious encephalitis, Arthritis |
ORPHA:91546 |
East Syndrome |
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Peripheral hypomyelination, Peripheral axonal neuropathy |
ORPHA:199343 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Optic atrophy, Segmental peripheral demyelination/remyelination, Demyelinating peripheral neuropathy |
ORPHA:255210 |
Neuromuscular Oculoauditory Syndrome |
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Peripheral hypomyelination, Sensory axonal neuropathy, Decreased nerve conduction velocity, Decre... |
OMIM:618733 |
Immunodeficiency 59 And Hypoglycemia |
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Herpes simplex encephalitis, Decreased circulating antibody level, Acne inversa, Recurrent skin i... |
OMIM:233600 |
Legionnaires Disease |
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Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Bone marrow hypocell... |
ORPHA:549 |
Scrub Typhus |
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Myocarditis, Infectious encephalitis, Skin rash, Anterior uveitis |
ORPHA:83317 |
Typhoid |
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Infectious encephalitis, Skin rash |
ORPHA:99745 |
Bacterial Toxic-Shock Syndrome |
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Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... |
ORPHA:36234 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... |
OMIM:618213 |
Cerebral Visual Impairment |
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Optic atrophy, Optic disc pallor, Infectious encephalitis, Optic nerve hypoplasia, Increased cup-... |
ORPHA:447788 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Pneumonia, Impaired T cell function, Decreased lymphocyte proliferation in response to... |
OMIM:613179 |
Congenital Disorder Of Glycosylation, Type Iil |
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Optic atrophy, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibo... |
OMIM:614576 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:256800 |
Meningococcal Meningitis |
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Papilledema, Infectious encephalitis, Skin rash |
ORPHA:33475 |
American Trypanosomiasis |
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Myocarditis, Infectious encephalitis, Skin rash |
ORPHA:3386 |
Thymic Aplasia |
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Sinusitis, Eczematoid dermatitis, Pneumonia, Chronic otitis media, Chronic oral candidiasis, Decr... |
ORPHA:83471 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Reynolds Syndrome |
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Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca |
ORPHA:779 |
Q Fever |
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Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hepatitis, Osteomyel... |
ORPHA:781 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Reduced natural killer cell activity, Infectious encephalitis, CNS demyelination, Skin rash |
OMIM:603553 |
Microsporidiosis |
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Sinusitis, Cholangitis, Myocarditis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... |
ORPHA:2552 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
Cockayne Syndrome A |
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Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... |
OMIM:216400 |
Cockayne Syndrome B |
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Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... |
OMIM:133540 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Infectious encephalitis |
ORPHA:1194 |
Hartnup Disease |
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Infectious encephalitis, Skin rash |
ORPHA:2116 |
Whipple Disease |
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Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis |
ORPHA:3452 |
Charcot-Marie-Tooth Disease Type 4C |
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Decreased motor nerve conduction velocity, Optic atrophy, Facial paralysis, Decreased number of p... |
ORPHA:99949 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Chronic axonal neuropathy, Peripheral hypomyelination |
OMIM:612780 |
New-Onset Refractory Status Epilepticus |
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Infectious encephalitis |
ORPHA:363558 |
Brucellosis |
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Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hip osteoarthritis, ... |
ORPHA:1304 |
Congenital Enterovirus Infection |
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Myocarditis, Hepatitis, Infectious encephalitis, Skin rash |
ORPHA:292 |
Avian Influenza |
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Infectious encephalitis, Pneumonia, Hepatitis, Myelitis, Conjunctivitis |
ORPHA:454836 |
Gm1 Gangliosidosis |
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Optic atrophy, Infectious encephalitis, Aspiration pneumonia |
ORPHA:354 |
Schimke Immuno-Osseous Dysplasia |
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Minimal change glomerulonephritis, Impaired T cell function, Bone marrow hypocellularity, Pancrea... |
ORPHA:1830 |
Immunoglobulin A Vasculitis |
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Optic atrophy, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis |
ORPHA:761 |
Zygomycosis |
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Sinusitis, Myocarditis, Abnormal cranial nerve morphology, Pericarditis, Infectious encephalitis,... |
ORPHA:73263 |
Rift Valley Fever |
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Infectious encephalitis, Hepatitis, Increased circulating IgG level, Uveitis, Increased circulati... |
ORPHA:319251 |
Neurocutaneous Melanocytosis |
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Infectious encephalitis |
ORPHA:2481 |
Chikungunya |
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Infectious encephalitis, Synovitis, Peripheral nerve compression, Arthritis, Crusting erythematou... |
ORPHA:324625 |
Listeriosis |
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Myocarditis, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis, Peritonitis... |
ORPHA:533 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings |
ORPHA:99956 |
Wiskott-Aldrich Syndrome |
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Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... |
OMIM:301000 |
Bohring-Opitz Syndrome |
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Delayed peripheral myelination |
OMIM:605039 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Infectious encephalitis, Facial palsy, Increased circu... |
ORPHA:79139 |
Poliomyelitis |
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Infectious encephalitis, Abnormal motor nerve conduction velocity, Myelitis |
ORPHA:2912 |
Nocardiosis |
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Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Osteo... |
ORPHA:31204 |
Behçet Disease |
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Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... |
ORPHA:117 |
Sarcoidosis, Susceptibility To, 1 |
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Optic neuropathy, Inflammation of the large intestine, Bronchiectasis, Arthritis, Increased circu... |
OMIM:181000 |
Cysticercosis |
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Increased circulating antibody level, Infectious encephalitis, Iridocyclitis |
ORPHA:1560 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Optic atrophy, Infectious encephalitis |
ORPHA:847 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Hepatitis,... |
ORPHA:391487 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Delayed peripheral myelination |
ORPHA:364577 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Infectious encephalitis |
OMIM:267700 |
Amoebiasis Due To Free-Living Amoebae |
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Sinusitis, Infectious encephalitis, Pustule, Pneumonia, Facial palsy |
ORPHA:68 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Incontinentia Pigmenti |
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Uveitis, Infectious encephalitis, Skin rash, Keratitis |
ORPHA:464 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Alexander Disease |
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Infectious encephalitis, Facial palsy |
ORPHA:58 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function |
OMIM:176690 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Arthritis, ... |
ORPHA:2388 |
22Q11.2 Deletion Syndrome |
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Optic atrophy, Impaired T cell function, Chronic otitis media, Seborrheic dermatitis, Acne, Arthr... |
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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Seborrheic dermatitis, Acne, Impaired T cell function |
OMIM:188400 |
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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Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
Birdshot Chorioretinopathy |
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Optic disc pallor, Inflammatory abnormality of the eye |
ORPHA:179 |
Spondyloarthropathy, Susceptibility To, 1 |
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Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Reactive Arthritis |
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Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... |
ORPHA:29207 |
Giant Cell Arteritis |
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Optic atrophy, Pericarditis, Arthritis |
ORPHA:397 |
Stevens-Johnson Syndrome |
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Pancreatitis, Conjunctivitis |
ORPHA:36426 |
Asthma, Susceptibility To |
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OMIM:600807 |