banner
Genes Phenotypes Help, News, Blog

Gene: Myd88 MGI:108005

Log in to follow

Gene Summary

Name:
myeloid differentiation primary response gene 88
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Myd88tm1a(EUCOMM)Wtsi HOM Early adult 7.64×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

6 Images

View images
Legacy Phenotype Associated Images
Myd88tm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Myd88tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Myd88tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Myd88tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Myd88tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 68 images

Myd88tm1a(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI
Myd88tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Myd88tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Myd88 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.

The table below shows human diseases associated to Myd88 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma OMIM:153600
Waldenström Macroglobulinemia
Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Gingival bleedi... ORPHA:33226
Immunodeficiency 68
Sepsis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent meningitis, T l... OMIM:612260

The table below shows human diseases predicted to be associated to Myd88 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Immunodeficiency 20
Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation OMIM:614493
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp... ORPHA:98813
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 32B
BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev... OMIM:226990
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Glycoprotein Storage Disease
Gout OMIM:232900
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t... OMIM:601859
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra... OMIM:612783
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int... OMIM:619281
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve... OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Muco... OMIM:615767
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot... OMIM:618982
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening... OMIM:616740
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Anti-thyroglobulin antibody p... OMIM:618048
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t... OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi... OMIM:619220
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Leukocytosis, Tremor, Severe infection, Axonal loss, Demyelinating moto... ORPHA:206594
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Chronic tinea infection, Abnormal natural killer cell c... OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Recurrent respirat... OMIM:300635
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count, Conjunctiv... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Verrucae, Recurre... ORPHA:217390
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia,... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... OMIM:620532
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki... OMIM:619374
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... OMIM:620565
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Verrucae, Eczematoi... OMIM:620632
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... ORPHA:443811
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti... OMIM:304790
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi... ORPHA:2298
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... ORPHA:276
Mhc Class Ii Deficiency 1
Recurrent viral infections, Protracted diarrhea, Neutropenia, Recurrent lower respiratory tract i... OMIM:209920
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec... OMIM:618495
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive h... OMIM:618969
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... ORPHA:411593
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto... OMIM:618985
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count,... OMIM:607594
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Recurrent acute respiratory tract infecti... ORPHA:231445
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respirat... OMIM:613953
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Hyp... OMIM:615577
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Pleural empyema, Abnormal circulati... ORPHA:544482
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proporti... OMIM:301000
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... OMIM:617241
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Griscelli Syndrome, Type 2
Spasticity, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bac... OMIM:607624
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ... OMIM:618282
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ... OMIM:607734
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio OMIM:616941
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurr... OMIM:229050
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Recurrent bro... OMIM:616069
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Clumsiness, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Recurrent respiratory infections, Rheumatoid factor positive, Lymphopenia, Leukope... OMIM:615934
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Inflammatory abnormality of the skin, Increased circulating... OMIM:102700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate kerat... OMIM:617388
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Decreased num... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Basal lamina onion bulb formation, Peripheral demyelination, Gait ataxia, Dec... OMIM:614895
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Rheumatoid factor positive, Hepatosplenomegaly, Thrombocyto... OMIM:209950
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgE level, Molluscum contagiosum, Lymphopenia, Abscess, ... OMIM:615816
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Hearing impairment, Recurren... ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... ORPHA:169160
Glutathione Synthetase Deficiency
Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Intention tremor OMIM:266130
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Hyper-Igd Syndrome
Recurrent infections, Diarrhea, Vomiting, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegal... OMIM:260920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,... ORPHA:331206
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Primary Biliary Cholangitis
Increased circulating IgA level, Cirrhosis, Abdominal distention, Hepatomegaly, Jaundice, Celiac ... ORPHA:186
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Thrombocytopenia, Hypertonia, Anemia, Spastic tetraplegia, Chronic neutr... OMIM:619302
Immunodeficiency 66
Meningitis, Defective T cell proliferation, Sepsis OMIM:618847
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Hypertonia, Thrombocytopenia, Spastic tetraplegia, Chronic neutropenia OMIM:619301
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H... OMIM:301078
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P... OMIM:269840
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur... OMIM:616050
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro... OMIM:159550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... ORPHA:71277
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... OMIM:614102
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Angiostrongyliasis
Unusual CNS infection, Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma OMIM:153600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Autoimmunity, T lymphocytopenia, Anemia, Thrombocytopeni... ORPHA:169079
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased circu... OMIM:616395
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomitin... ORPHA:2070
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi... ORPHA:90003
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi... OMIM:601457
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe... OMIM:614069
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Sepsis, Diarrhea, Hepatitis, Vomiting, Abnormal bleeding, Lymphopeni... ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive... ORPHA:1163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Chilblains, Increased circulating antibody level, Recurrent lower respira... OMIM:615846
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Peripheral demyelination, Pro... ORPHA:280234
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Gait at... OMIM:614877
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis ORPHA:90064
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Paralysis, Per... OMIM:605285
Kimura Disease
Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura... OMIM:619510
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th... OMIM:608184
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... OMIM:256500
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Hemolytic anemia OMIM:612740
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy DECIPHER:59
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu... OMIM:150550
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Epi... ORPHA:209964
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:608971
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal... OMIM:618935
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l... OMIM:613791
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Vocal cord paralysis OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Peripheral demyelination, Chorea, Rigidity, Abnormality of extrapyramidal motor funct... OMIM:617672
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu... ORPHA:101097
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
Krabbe Disease
Optic atrophy, Progressive spasticity, Peripheral demyelination, CNS demyelination, Hypertonia, D... OMIM:245200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematoche... OMIM:618183
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Gait ataxia, Ataxia, Segmental peripheral demyelination/remyelination... OMIM:601098
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Spinocerebellar Ataxia Type 43
Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropathy, Decreased number of la... ORPHA:497764
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ... OMIM:620282
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Tremor, Decreased number of peripher... OMIM:609260
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Sepsis, Chorea, Hemiplegia/hemiparesis, Thrombocytopenia, Neutropenia, Anemia, Cho... ORPHA:289916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Peripheral demyelination, Babinski sign, Frequent falls, Onion bulb formation OMIM:618279
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, In... OMIM:617099
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Peripheral demyelination, Myelin tomacula, Dec... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte prolifera... ORPHA:83471
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, Ce... OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythroderma,... OMIM:614328
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract... OMIM:615758
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Axonal degeneration/regeneration, Decreased number of peripheral myelinated n... OMIM:607706
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Rheumatoid facto... ORPHA:91139
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Partial absence of specific antibody response to tetanus vaccine, D... OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... OMIM:300755
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, S... ORPHA:178320
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cholestasis, Hyperbilirubinemia, Granulomatous cholangitis, ... ORPHA:562639
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Hodgkin lymp... OMIM:613011
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity... ORPHA:2902
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia... OMIM:615387
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Sepsis, Hypotension, Abnor... ORPHA:70578
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Hypertonia, Slu... ORPHA:2386
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Gait ataxia, Babinski sign, CNS demyelination, Spastic tetraparesis OMIM:249900
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Peripheral demyelination, Chorea, Gait ataxia, Dysmet... ORPHA:397946
Netherton Syndrome
Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Malabso... ORPHA:634
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial in... OMIM:603585
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Inflammation of the large intest... OMIM:617718
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Peripheral axonal neuropathy, Babinski sign, Lower limb spasti... OMIM:615035
Radiation Proctitis
Hematochezia, Arteritis, Sepsis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstr... ORPHA:70475
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr... OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti... OMIM:307200
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent... OMIM:618131
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Chr... OMIM:256040
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Chronic infection ORPHA:132
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Inva... ORPHA:158048
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem... ORPHA:88
Abetalipoproteinemia
Peripheral demyelination, Acanthocytosis, CNS demyelination, Ataxia OMIM:200100
Igg4-Related Thyroid Disease
Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu... ORPHA:64744
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinop... OMIM:615508
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axon... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Ataxia OMIM:616684
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma OMIM:270300
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia OMIM:616949
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Hermansky-Pudlak Syndrome 2
Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple... OMIM:608233
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Abdominal pain, Hypoproteinemia, Opportunistic infection, Hypoc... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... OMIM:617475
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Cryptorchidism, Hypogonadism ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Abnormalit... ORPHA:542592
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Meningitis, Recurrent ... ORPHA:33110
Immunodeficiency 96
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti... OMIM:619774
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Recurrent respiratory infections, Lymphoma, Increased circulating IgE leve... ORPHA:2314
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstit... ORPHA:340
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:79230
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Abnormal optic nerve mo... ORPHA:79078
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Anemia, Increased circulating interleukin ... OMIM:620514
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral demyelination, Chorea, Axonal degeneration, Peripheral hypomyelination, Babinski sign,... OMIM:604168
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes me... ORPHA:99886
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
C3 Glomerulopathy
Paraproteinemia, Elevated circulating creatinine concentration, Central serous chorioretinopathy,... ORPHA:329918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Peripheral axonal neuropathy, Paralysis OMIM:613710
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... ORPHA:90363
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody posit... OMIM:620376
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... ORPHA:35078
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination OMIM:616287
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnor... ORPHA:125
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Lead Poisoning
Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,... ORPHA:330015
Boutonneuse Fever
Diarrhea, Elevated circulating hepatic transaminase concentration, Leukopenia, Skin rash, Maculop... ORPHA:83313
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Esophagea... OMIM:615468
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Immunodeficiency 9
Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent... OMIM:612782
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Peripheral demyelination, Myoclonus, Babinski sign, Apraxia, Axonal loss OMIM:221770
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Elevated circulating hepatic transaminase con... OMIM:614576
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Splenomegaly, Tremor, Rigidity, Increased circulating Interferon-alpha concentrat... OMIM:615010
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio... OMIM:615122
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Xq28 (MECP2) duplication
Gastroesophageal reflux, Decreased circulating IgA level, Feeding difficulties in infancy, Consti... DECIPHER:45
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Inflammatory Bowel Disease 11