Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mannoside acetylglucosaminyltransferase 5, isoenzyme B
Synonyms:
GnT-IX

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mgat5b 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 Mgat5b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Gliosis, Herpes simplex encephalitis OMIM:613002
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... OMIM:607734
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Recurrent acute respiratory tract infection ORPHA:231445
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis OMIM:616098
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Null Syndrome
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Peripheral demyelination, Myelitis ORPHA:71211
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections,... OMIM:618982
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology, Meningitis ORPHA:217260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Recurrent aphthous stomatitis, Herpes simplex encephalitis OMIM:614850
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Abnormal optic disc morphology, Acute demyelinating... ORPHA:448237
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl... OMIM:247800
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Recurrent infections, Astrocytosis, Gliosis ORPHA:204
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Severe infection, Axonal loss, Demyelinating motor neuropathy, Diffuse ... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... OMIM:607706
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Peripheral demyelination ORPHA:2932
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... ORPHA:859
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... OMIM:301078
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Decreased circulating IgG level, Hypopituitarism, Increased circulating IgE level, De... ORPHA:98813
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Pfapa Syndrome
Recurrent pharyngitis, Arthritis, Infectious encephalitis ORPHA:42642
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination, Gliosis OMIM:221770
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermatomyositis syndrome... OMIM:307200
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Onion bulb formation OMIM:618279
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Axonal degeneration, Decreased number of peripheral... OMIM:604484
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:609260
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Myelin outfoldings OMIM:601382
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Basal ganglia gliosis ORPHA:225154
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, CNS demyelination OMIM:249900
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... OMIM:605285
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Invasive pulmonary aspergillosis, Osteomy... ORPHA:1163
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Type I diabetes mellitus, ... OMIM:620430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Increased circulating IgG level, Reduced delayed hypersensitivity, Autoimmune hemolyti... OMIM:603909
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin... OMIM:614379
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Cerebral Visual Impairment
Optic atrophy, Unusual CNS infection, Infectious encephalitis, Meningitis, Optic disc pallor, Inc... ORPHA:447788
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Severe Epstein Barr virus infection, Recurrent pharyngitis, Meningitis, ... OMIM:308240
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Foot osteomyelitis, Axonal degeneration/regeneration, Decreased number... OMIM:600882
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Axonal degeneration, Peripheral hypomye... OMIM:604168
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Gliosis, Leukodystrophy OMIM:169500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Pelizaeus-Merzbacher Disease
Optic atrophy, CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Ab... OMIM:312080
Scrub Typhus
Skin rash, Infectious encephalitis, Myocarditis, Meningitis, Anterior uveitis ORPHA:83317
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Lyme Disease
Meningitis, Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Bacterial Toxic-Shock Syndrome
Pneumonia, Severe varicella zoster infection, Hepatitis, Severe viral infection, Recurrent urinar... ORPHA:36234
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Whim Syndrome 1
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormal femal... OMIM:193670
Immunodeficiency 10
Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:612783
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Krabbe Disease
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:245200
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells... OMIM:611926
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Amyloidosis of peripheral nerves, Vestibular nystagmus ORPHA:282166
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV meningitis, EBV encephalitis, Severe varicella zoster infection, Recurre... OMIM:615122
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Enteroviral dermatomyositis syndrome, Recurr... OMIM:300755
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... ORPHA:98856
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Meningococcal Meningitis
Papilledema, Skin rash, Infectious encephalitis ORPHA:33475
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Recurrent urinary tract infections OMIM:609033
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis, Meningitis ORPHA:454836
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Legionnaires Disease
Hepatitis, Infectious encephalitis, Pancreatitis, Recurrent pharyngitis, Myocarditis, Endocarditi... ORPHA:549
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Onion bulb formation OMIM:607684
Congenital Enterovirus Infection
Hepatitis, Skin rash, Infectious encephalitis, Myocarditis, Meningitis ORPHA:292
Tangier Disease
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia OMIM:205400
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni... OMIM:601457
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... ORPHA:1310
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia OMIM:616604
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Septic arthritis, Brain absc... ORPHA:533
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Nocardiosis
Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Ost... ORPHA:31204
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601455
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy ORPHA:101082
Hemophagocytic Lymphohistiocytosis, Familial, 2
Meningitis, CNS demyelination, Skin rash, Infectious encephalitis OMIM:603553
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Hepatitis, Keratitis, Brain abscess, Osteomye... ORPHA:2552
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapular exanthema ORPHA:540
Zygomycosis
Nephritis, Unusual skin infection, Invasive fungal infection, Hepatitis, Brain abscess, Fasciitis... ORPHA:73263
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, M... ORPHA:781
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Gm1 Gangliosidosis
Optic atrophy, Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Myelin outfoldings OMIM:615284
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Septic arthr... ORPHA:449280
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Acute Disseminated Encephalomyelitis
Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Severe parainfluenza infection, ... ORPHA:83597
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Myelofibrosis, Myeloproliferative d... OMIM:254450
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Kimura Disease
Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Boutonneuse Fever
Leukopenia, Renal insufficiency, Thrombocytopenia, Increased circulating IgG level, Increased cir... ORPHA:83313
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Hepatitis, Enteroviral encephalitis, Sclerosing cholangitis, Meni... OMIM:308230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Mody
Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pa... ORPHA:552
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Infectious encephalitis OMIM:267700
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:102700
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... OMIM:619774
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Cholecystitis OMIM:250100
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination, Gliosis OMIM:252160
Poliomyelitis
Meningitis, Myelitis, Infectious encephalitis ORPHA:2912
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Onion bulb formation, Axonal degeneration, Decreased number of pe... OMIM:302800
Immunoglobulin A Vasculitis
Optic atrophy, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Molybdenum Cofactor Deficiency, Type A
Axonal loss, Peripheral demyelination, Gliosis OMIM:252150
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Abnormal... ORPHA:449432
Immunodeficiency 46
Conjunctivitis, Meningitis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Membranoprolife... OMIM:615816
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... OMIM:187900
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Chikungunya
Neuritis, Peripheral nerve compression, Skin rash, Infectious encephalitis, Crusting erythematous... ORPHA:324625
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Astrocytosis, Recurrent lower respiratory tract infections, Facial palsy ORPHA:258
Japanese Encephalitis
Meningitis, Facial palsy, Infectious encephalitis ORPHA:79139
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent meningococc... OMIM:610984
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Osteomyelitis, Decreased number of large peripheral myelinated nerve f... OMIM:162400
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Demyelinating pe... OMIM:218000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Dysmye... OMIM:609136
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Me... ORPHA:229717
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Infectious encephalitis, Recurrent urinary tract infections ORPHA:847
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection ORPHA:464370
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Arthritis,... ORPHA:33110
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Rift Valley Fever
Severe viral infection, Hepatitis, Skin rash, Infectious encephalitis, Uveitis ORPHA:319251
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, In... OMIM:617388
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Incontinentia Pigmenti
Infectious encephalitis, Keratitis, Skin rash, Uveitis ORPHA:464
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Cockayne Syndrome Type 3
Astrocytosis, Peripheral axonal neuropathy, Keratoconjunctivitis sicca, Demyelinating peripheral ... ORPHA:90324
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... OMIM:606367
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination ORPHA:48431
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Alexander Disease
Facial palsy, Infectious encephalitis ORPHA:58
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu... OMIM:615934
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Infectious encephalitis, Pustule, Sinusitis, Facial palsy ORPHA:68
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Pneumonia, Invasive fungal infection, Opportunistic infection, Eczematoid d... ORPHA:83471
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Activated Pi3K-Delta Syndrome
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... ORPHA:397596
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Panhypogammaglobulinemia, I... OMIM:602450
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme... ORPHA:91139
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Splenomegaly, Increased circulating IgA level, Incr... ORPHA:29073
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Otitis media, Skin rash, Erythema no... ORPHA:3392
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Decreased... OMIM:618213
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers ORPHA:90103
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Type I diabetes mellitus, Pancytopenia, Decreased circulating Ig... OMIM:614700
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias, Cryptorchidism, Craniosynostosis OMIM:175700
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Hyperglycemia, ... OMIM:246200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hyperglycemia, Macronodular adrenal hyperplasia, Osteoporosis OMIM:615954
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Increased circulating IgE level, Hematuria, Prostatitis, Abno... ORPHA:449395
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia,... ORPHA:2088
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site ORPHA:168563
Castleman Disease
Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Hem... ORPHA:160
Cinca Syndrome
Skin rash, Papilledema, Arthritis, Meningitis, Uveitis OMIM:607115
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Hypoglycemia, Decreased response to growth hormone stimulation t... OMIM:615577
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis OMIM:203700
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Stomatitis, Severe demyelination of the white matter ORPHA:79282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Decre... ORPHA:436159
Autoimmune Hepatitis
Increased circulating IgG level, Glomerulonephritis, Splenomegaly, Increased circulating antibody... ORPHA:2137
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, M... ORPHA:47
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Cysticercosis
Iridocyclitis, Infectious encephalitis ORPHA:1560
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibroma, Leukodystrophy, Osteomyelitis, Peripheral demyelination, Otitis media, Recurrent ea... OMIM:619475
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... OMIM:601495
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Osteopenia, Decreased circulating t... ORPHA:221139
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Hypermyelinated retinal nerve fiber... OMIM:270550
Immunodeficiency 68
Septic arthritis, Recurrent meningitis, Recurrent skin infections, Lymphadenitis OMIM:612260
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Pancytopenia, Decreased circulating IgA ... OMIM:275350
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Fusariosis
Pneumonia, Unusual CNS infection, Invasive fungal infection, Keratitis, Brain abscess, Fasciitis,... ORPHA:228119
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Gangl... ORPHA:293987
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Stage ... OMIM:608612
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Renal hypoplasia, Ly... OMIM:620005
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Follicular Lymphoma
Meningitis ORPHA:545
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... ORPHA:298
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis ORPHA:729
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Myotonic Dystrophy 2
Decreased circulating IgG level, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, ... OMIM:602668
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Abnormal lymphocyt... ORPHA:293978
Alg12-Cdg
Recurrent hypoglycemia, Abnormal circulating IgM level, Complete or near-complete absence of spec... ORPHA:79324
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Coccidioidomycosis
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Renal insufficiency, Abs... ORPHA:228123
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infec... ORPHA:169090
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Splenomegaly, Hypogonadotropic hypogonadism, Testicular atrophy, Osteoporosis, Dia... ORPHA:465508
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Moto... ORPHA:466768
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
Autoinflammation With Infantile Enterocolitis
Meningitis, Enterocolitis, Skin rash OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination, Gliosis OMIM:220111
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Episcleritis, Skin rash, Recurrent bacterial infections, Arthritis, Inflammatory ... ORPHA:36412
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... OMIM:269880
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Pancreatic fibrosis, No... ORPHA:64744
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia ORPHA:391673
Cinca Syndrome
Pseudopapilledema, Inflammatory abnormality of the eye, Meningitis, Retrobulbar optic neuritis, U... ORPHA:1451
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased number... ORPHA:101085
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Optic neuropathy, Onion bulb formation ORPHA:320375
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hep... ORPHA:37042
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Melioidosis
Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatiti... ORPHA:31202
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnormal ductus chol... ORPHA:562639
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Clitoral hypertroph... ORPHA:769
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Thrombocytosis ORPHA:134
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Increased circulating IgG4 level, Abnormality of the submandibular glan... ORPHA:79078
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis, Keratitis OMIM:256800
Chronic Granulomatous Disease
Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Meningitis, ... ORPHA:379
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Leukocytosis ORPHA:90065
Igg4-Related Pachymeningitis
Nephritis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concentrat... ORPHA:449427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Progressive cla... OMIM:248370
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Diabetes mellitus OMIM:615710
Arachnoiditis
Meningitis ORPHA:137817
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Cryptorchidism OMIM:607721
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, ... ORPHA:83617
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Crimean-Congo Hemorrhagic Fever
Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Hematuria, Proteinuria... ORPHA:99827
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Mixed Connective Tissue Disease
Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Meningitis, P... ORPHA:809
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Parotitis, Hepatosplenomegaly, Decreased circu... OMIM:620376
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Patchy demyelination o... OMIM:133540
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Patchy demyelination o... OMIM:216400
Alstrom Syndrome
Nephritis, Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation ... OMIM:203800
Cole Disease
Hyperglycemia OMIM:615522
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Eosino... ORPHA:449563
Congenital Syphilis
Pneumonia, Optic atrophy, Keratitis, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, ... ORPHA:499009
Isolated Sedoheptulokinase Deficiency
Anemia, Renal insufficiency, Hypochromic microcytic anemia, Postprandial hyperglycemia ORPHA:440713
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Demyelinating peripheral neuropathy, Decreased number of periphe... ORPHA:99949
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperglycemia, Hyperinsulinemia, T... OMIM:151660
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Reduced hematocrit, D... ORPHA:91500
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Bohring-Opitz Syndrome
Recurrent infections, Delayed peripheral myelination OMIM:605039
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypogonadism, Hypergly... ORPHA:79474
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Ano... OMIM:619381
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Clitoral hypertroph... ORPHA:508
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspiration OMIM:223900
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Giant Cell Arteritis
Optic atrophy, Arthritis, Recurrent pharyngitis, Meningitis, Pericarditis ORPHA:397
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Meningitis, Recu... OMIM:600802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent pneumonia, Skin rash, Colonic eosinophilia, Mening... OMIM:617718
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Decreased number of peripheral... OMIM:256810
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Thrombocytopenia OMIM:620423
Sepsis In Premature Infants
Invasive fungal infection, Severe infection, Enterocolitis, Meningitis, Disseminated viral infection ORPHA:90051
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Myelin outfoldings ORPHA:99956
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Hydronephrosis, Dysgammaglobulinemia, Thrombocytopenia, B lymphocyto... OMIM:251260
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... ORPHA:2968
Cryptococcosis
Pneumonia, Osteomyelitis, Abnormal cranial nerve morphology, Peritonitis, Prostatitis, Meningitis ORPHA:1546
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Meningitis, Pericarditis OMIM:249100
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,... ORPHA:906
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Meningitis... ORPHA:342
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... ORPHA:900
Bardet-Biedl Syndrome
Insulin resistance, Chronic kidney disease, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, H... ORPHA:110
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Severe infection, Pancreatitis, Myocarditis, Se... ORPHA:544482
Trichinellosis
Conjunctivitis, Meningitis, Facial palsy, Skin rash ORPHA:863
Acute Transverse Myelitis
Severe viral infection, Invasive parasitic infection, Disseminated nontuberculous mycobacterial i... ORPHA:139417
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Lacticaciduria ORPHA:3008
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Myositis, Opt... ORPHA:289390
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Recurrent pneu... OMIM:301000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Lacticaciduria, Tubulointerst... OMIM:124000
Kawasaki Disease
Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Arthritis, Recurrent pharyngitis, Myocarditi... ORPHA:2331
Viss Syndrome
Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Hydronephros... OMIM:619472
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Horseshoe kidney, Hyperglycemia, Decreased response to growth hormone stimulation test, Vesicoure... ORPHA:444077
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Ureteral duplication, Diabe... OMIM:600001
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Choreoacanthocytosis