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Gene: Mgat5b MGI:3606200

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Herpes simplex encephalitis, Gliosis OMIM:613002
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral 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
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
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
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... OMIM:180800
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
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
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Peripheral demyelination, Myelitis ORPHA:71211
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Null Syndrome
Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology, Meningitis ORPHA:217260
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601098
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Zika Virus Disease
Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Abnormal optic... ORPHA:448237
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... OMIM:247800
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Gliosis, Recurrent aspiration pneumonia, Astrocytosis 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
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Severe infection, Axonal loss... ORPHA:206594
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... OMIM:607706
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell... OMIM:301078
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Gliosis, Peripheral demyelination OMIM:221770
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve... ORPHA:98813
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... OMIM:609260
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Increased... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Optic atrophy, Astrocytosis ORPHA:225154
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
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
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Severe Epstein Barr... OMIM:308240
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... ORPHA:1163
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Unusual CNS infection, Increased cup-to... ORPHA:447788
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r... OMIM:600882
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic atrophy... OMIM:312080
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Axonal degeneration, Peripheral hypomyelination, Peripheral demye... OMIM:604168
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level ORPHA:2056
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Krabbe Disease
CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:245200
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... ORPHA:36234
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis ORPHA:83317
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... OMIM:193670
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Amyloidosis of peripheral nerves, Astrocytosis ORPHA:282166
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... OMIM:615122
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... ORPHA:139402
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Glucose intolerance, Fasti... ORPHA:2298
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis... OMIM:611926
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Optic atrophy, Peripheral demyelination OMIM:609033
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Meningococcal Meningitis
Skin rash, Papilledema, Infectious encephalitis ORPHA:33475
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid... OMIM:613496
Avian Influenza
Pneumonia, Hepatitis, Conjunctivitis, Meningitis, Infectious encephalitis, Myelitis ORPHA:454836
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Onion bulb formation, Facial palsy OMIM:607684
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis ORPHA:3386
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Infectious encephaliti... ORPHA:549
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Meningitis, Infectious encephalitis ORPHA:292
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis ORPHA:779
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Listeriosis
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocardit... ORPHA:533
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Microsporidiosis
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... ORPHA:2552
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Meningitis, Seve... ORPHA:31204
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, CNS demyelination, Meningitis, Infectious encephalitis OMIM:603553
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis ORPHA:540
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Gm1 Gangliosidosis
Recurrent respiratory infections, Optic atrophy, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation OMIM:615284
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis OMIM:300857
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Meningitis, M... ORPHA:781
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... ORPHA:73263
Acute Disseminated Encephalomyelitis
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... ORPHA:83597
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:607250
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pgm3-Cdg
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic ora... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Reduced bone mineral density, Decreased circulating total IgM, Leukope... OMIM:620210
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia ORPHA:482
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Boutonneuse Fever
Renal insufficiency, Increased circulating IgG level, Increased circulating IgM level, Leukopenia... ORPHA:83313
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis OMIM:614116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Infectious encephalitis OMIM:267700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytop... OMIM:102700
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Cholecystitis OMIM:250100
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Axonal degeneration, Onion bulb formation, Decreased number of pe... OMIM:302800
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Gliosis, Peripheral demyelination OMIM:252160
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 96
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... OMIM:619774
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Gliosis, Peripheral demyelination OMIM:252150
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Pustule, Orchitis, Optic atrophy, Arthritis, Infectious encephalitis ORPHA:761
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... ORPHA:69076
Chikungunya
Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Crusting eryt... ORPHA:324625
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Increased circ... OMIM:615816
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Japanese Encephalitis
Infectious encephalitis, Meningitis, Facial palsy ORPHA:79139
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Myositis, Facial palsy, Astrocytosis ORPHA:258
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ... OMIM:162400
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Prostatitis, Increased circu... ORPHA:449432
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma... OMIM:218000
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Pneumonia ORPHA:464370
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... OMIM:256850
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Optic atrophy, Infectious encephalitis ORPHA:847
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Peripheral hypomyelination, Myelin outfol... OMIM:609136
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias, Craniosynostosis OMIM:175700
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:99948
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Rift Valley Fever
Skin rash, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Facial palsy, Pustule, Infectious encephalitis ORPHA:68
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Incontinentia Pigmenti
Keratitis, Infectious encephalitis, Uveitis, Skin rash ORPHA:464
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Alexander Disease
Infectious encephalitis, Facial palsy ORPHA:58
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Astrocytosis, Keratoconjunctivitis sicca, Abnorm... ORPHA:90324
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Monoclonal elevation ... ORPHA:91139
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... OMIM:615934
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, Increased circulating IgE leve... OMIM:602450
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... ORPHA:29073
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Hypercalci... ORPHA:2088
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hyperglycemia, Osteoporosis, Macronodular adrenal hyperplasia OMIM:615954
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Fasting hypoglycemia, Postprandia... OMIM:246200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination ORPHA:168563
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cinca Syndrome
Papilledema, Skin rash, Uveitis, Arthritis, Meningitis OMIM:607115
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration ORPHA:90103
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter ORPHA:79282
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Renal insufficiency, Anemia, De... ORPHA:160
Igg4-Related Kidney Disease
Sterile pyuria, Increased circulating IgG level, Tubulointerstitial nephritis, Decreased circulat... ORPHA:449395
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Glomerulonep... ORPHA:2137
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased circulating total ... OMIM:615577
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... OMIM:275350
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Cysticercosis
Iridocyclitis, Infectious encephalitis ORPHA:1560
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Infertility, Erecti... ORPHA:465508
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Unilateral renal agenesis... ORPHA:221139
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... OMIM:270550
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia, Irregular menstruation OMIM:615986
Myotonic Dystrophy 2
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... OMIM:602668
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Acute lymph... OMIM:208900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Osteomyelitis, Recurrent ear infections, Delayed myelination, Neurofibroma, Recurrent infections,... OMIM:619475
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... ORPHA:254930
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Infec... ORPHA:293987
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Follicular Lymphoma
Meningitis ORPHA:545
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Cryp... OMIM:620005
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... ORPHA:298
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Alg12-Cdg
Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)... ORPHA:79324
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Atopic dermatitis, Abnormal myelination, Mixed demyelinating and... ORPHA:466768
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Abscess, Eosinophilia, Abnormality of the spleen,... ORPHA:228123
Necrotizing Enterocolitis
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytopenia ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Gliosis, Peripheral demyelination OMIM:220111
Polycythemia Vera
Myelofibrosis, Splenomegaly, Acute leukemia ORPHA:729
Adult-Onset Still Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Arthritis, Meningitis ORPHA:829
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Autoinflammation With Infantile Enterocolitis
Skin rash, Meningitis, Enterocolitis OMIM:616050
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Arthritis, Recurrent bacte... ORPHA:36412
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... ORPHA:101085
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneum... ORPHA:37042
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Abnor... ORPHA:297
Cinca Syndrome
Retrobulbar optic neuritis, Meningitis, Uveitis, Pseudopapilledema, Inflammatory abnormality of t... ORPHA:1451
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, Generalized ami... OMIM:227810
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Ketonuria, Hypoglycemia OMIM:615453
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... ORPHA:3260
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Abnormal ductus choledochus morphology, Granuloma, Increased cir... ORPHA:562639
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Euthy... ORPHA:64744
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pr... OMIM:248370
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Leukocytosis, Thrombocytosis, Hyperglycemia ORPHA:134
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Long penis,... ORPHA:769
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Leukocytosis, Hyperglycemia ORPHA:90065
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis OMIM:256800
Cole Disease
Hyperglycemia OMIM:615522
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... ORPHA:379
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Complement deficiency, Nephritis, Parotitis ORPHA:449427
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Cryptorchidism OMIM:607721
Arachnoiditis
Meningitis ORPHA:137817
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Enla... ORPHA:79078
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Proteinuria, Orchitis, Splenomegaly, Leukocytosis, Epididy... ORPHA:99827
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Micropenis, Decreased circulating ... ORPHA:83617
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Gorham-Stout Disease
Osteomyelitis, Meningitis ORPHA:73
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, ... ORPHA:449563
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Annular pancreas, Pancreatic hypoplasia OMIM:615710
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Premature ovarian insufficiency, Diabetes... ORPHA:79474
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:133540
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Optic atrophy, Abnormal peripheral myelination,... OMIM:216400
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin... ORPHA:99949
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Renal insufficiency, Hypochromic microcytic anemia, Anemia ORPHA:440713
Bohring-Opitz Syndrome
Delayed peripheral myelination, Recurrent infections OMIM:605039
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, I... ORPHA:91500
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari... OMIM:151660
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Osteomalacia, Splenomegal... OMIM:619381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, T lymphocytop... OMIM:251260
Giant Cell Arteritis
Pericarditis, Recurrent pharyngitis, Optic atrophy, Arthritis, Meningitis ORPHA:397
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspiration OMIM:223900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Recurrent infections, Inflammation of the large intestine, Blepha... OMIM:617718
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Insulin resis... ORPHA:508
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis leading to amputation due t... OMIM:256810
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Renal tubular dysf... ORPHA:99885
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Charcot-Marie-Tooth Disease Type 4B2
Myelin outfoldings, Optic atrophy ORPHA:99956
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Prostatitis, Abnormal cranial nerve morphology ORPHA:1546
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis OMIM:249100
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... ORPHA:342
Sepsis In Premature Infants
Severe infection, Disseminated viral infection, Meningitis, Enterocolitis ORPHA:90051
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Arthritis, Con... ORPHA:2331
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... ORPHA:900
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the la... ORPHA:906
Trichinellosis
Skin rash, Meningitis, Conjunctivitis, Facial palsy ORPHA:863
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Septic arthritis... ORPHA:544482
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Lacticaciduria ORPHA:3008
Acute Transverse Myelitis
Invasive parasitic infection, Severe viral infection, Disseminated nontuberculous mycobacterial i... ORPHA:139417
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... OMIM:301000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Recurrent hypoglycemia, Aminoaciduria... OMIM:124000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesicourete... ORPHA:444077
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Viss Syndrome
Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hydronephros... OMIM:619472
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Glycosuria, Hyperglycemia, Pancreati... OMIM:600001
Scorpion Envenomation
Ketonuria, Glycosuria, Hyperglycemia, Acute kidney injury, Priapism ORPHA:466677
Plague
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec... ORPHA:707
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Arthritis, Peripheral axonal neuropathy ORPHA:2388
Hydranencephaly
Meningitis, Optic nerve hypoplasia ORPHA:2177
Leptospirosis
Papilledema, Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Meningitis ORPHA:509
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Urinary retention, Decreased urinary potassium ORPHA:79102
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Malar rash, Meningitis ORPHA:50918
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mgat5b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mgat5b.

No publications found that use IMPC mice or data for Mgat5b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mgat5btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mgat5btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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