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Gene: Nfkb1 MGI:97312

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Gene Summary

Name:
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
Synonyms:
p50/p105,  p50,  NF-kappaB,  NF-kappaB p50,  p50 subunit of NF kappaB,  nuclear factor kappaB p50,  NF kappaB1

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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
increased circulating alkaline phosphatase level Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 1.61×10-05
decreased circulating sodium level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 5.87×10-07
increased circulating alanine transaminase level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 3.51×10-05
increased circulating iron level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 1.39×10-05
decreased lean body mass Nfkb1tm1a(KOMP)Wtsi HOM Early adult 3.49×10-05
abnormal cornea morphology Nfkb1tm1a(KOMP)Wtsi HOM Early adult 7.18×10-08
abnormal skin condition Nfkb1tm1a(KOMP)Wtsi HOM Early adult 1.48×10-05
decreased circulating serum albumin level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 4.59×10-05
increased circulating LDL cholesterol level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 1.45×10-07
decreased mean corpuscular hemoglobin Nfkb1tm1a(KOMP)Wtsi HOM Early adult 4.36×10-06
increased lactate dehydrogenase level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 4.33×10-06
increased leukocyte cell number Nfkb1tm1a(KOMP)Wtsi HOM Early adult 2.94×10-19
increased circulating aspartate transaminase level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 0.000100
abnormal coat/hair pigmentation Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 4.28×10-06
increased circulating free fatty acids level Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 5.38×10-05
decreased body length Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 8.95×10-05

Download data as:  TSV  XLS

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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 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Legacy Phenotype Associated Images
Nfkb1tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Nfkb1tm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI

View all 166 images

Nfkb1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Nfkb1tm1a(KOMP)Wtsi
eye, corneal opacity, HOM, Female, WTSI

Human diseases caused by Nfkb1 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 Nfkb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent infections, Autoimmune hemolytic anemia, Atrophic g... OMIM:616576
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Abnormality of the live... ORPHA:1572

The table below shows human diseases predicted to be associated to Nfkb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 24
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Recurrent bacteria... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:606843
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia, Reduced natural killer cell count, Panhypogammaglo... OMIM:615214
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Decrease... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Immunodeficiency 20
Recurrent respiratory infections, BCGitis, Recurrent oral herpes, Reduced natural killer cell cou... OMIM:615707
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Abnormal T cell morphology, Recurrent bacterial infections, Decr... OMIM:613502
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... OMIM:615592
Immunodeficiency 18
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... OMIM:615615
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... OMIM:609529
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency, Common Variable, 2
Meningitis, Hepatomegaly, Decreased circulating IgA level, Impaired T cell function, Recurrent ba... OMIM:240500
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... OMIM:300310
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:619707
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Colitis, Decr... OMIM:619281
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ba... OMIM:612692
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Recurrent lower respiratory tract infections, Lymphopenia, Recurrent upper respirat... OMIM:616100
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Absent tonsils, Abnormality of humoral immunity, Increased ... ORPHA:277
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... OMIM:212050
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Decreased circulating total IgA, Chronic oral candi... ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Atopic de... OMIM:618944
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... OMIM:618394
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infection of the gastrointestinal trac... OMIM:137100
Immunodeficiency 102
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Rec... OMIM:301082
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Autoimmune thromboc... OMIM:619220
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Atopic dermatitis, Severe cy... OMIM:617638
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Mucoid d... OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent herpes, Chronic oral candidiasis, Decreas... ORPHA:276
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody le... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... OMIM:300635
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Abdominal pain, Hepatos... OMIM:619802
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgA, Celiac dise... OMIM:618969
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Recurrent infections, Cervical lymphadenopat... OMIM:618534
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Decreased circ... OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... OMIM:613501
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Dissemina... OMIM:243700
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased circulating beta-2-mic... OMIM:241600
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... OMIM:619773
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent viral infect... ORPHA:217390
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, High palate, Decreased circulating IgA level, Decreased circulat... OMIM:614069
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Recurrent lower respiratory tract infections, Hepatomegaly, ... OMIM:308230
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... ORPHA:331206
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... OMIM:619510
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Selective Igm Deficiency
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... ORPHA:331235
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Colitis, Decreased proportion of c... OMIM:616098
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatom... OMIM:269840
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, De... OMIM:616005
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased proportion of cla... OMIM:615513
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min... OMIM:617006
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Decreased s... OMIM:300853
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, BCGitis, Increased circulating IgE level, Sepsis, He... OMIM:602450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Ch... OMIM:606367
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Chronic diarrhea... OMIM:614700
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Recurrent lower respiratory tract infections, Recurrent fungal infections... OMIM:209920
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent viral infections, Rec... OMIM:308220
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... OMIM:613101
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... OMIM:619632
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Complement deficiency OMIM:613791
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Skin rash, Decr... ORPHA:275
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis, Recurrent infections OMIM:235900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... OMIM:614868
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Decreased circulating complement C6 concentration, Recurre... OMIM:612446
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Bronchiolitis obliterans, Increased circulating IgE level, Increased ci... OMIM:617241
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased proportion of clas... OMIM:614878
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent meningococcal disease, Recurrent Nei... OMIM:610102
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Intestinal obstructi... ORPHA:343
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Recurrent infections, Increased circulating ... OMIM:618282
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Sepsis, Abdominal pain, Severe infe... ORPHA:2686
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Persistent CMV viremia, Leuko... OMIM:619652
Agammaglobulinemia 8A, Autosomal Dominant
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... OMIM:616941
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Dec... OMIM:618495
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... OMIM:613953
Immunodeficiency 52
Persistent CMV viremia, Recurrent infections, Autoimmune thrombocytopenia, Increased proportion o... OMIM:617514
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, Co... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Recurrent infection of the g... OMIM:608184
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... OMIM:620210
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE l... OMIM:147060
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, B lymphocyt... ORPHA:35078
Immunodeficiency 27A
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Increased ... OMIM:209950
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... ORPHA:169079
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Recurrent infections, Agammaglobulinemia OMIM:616911
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... ORPHA:70592
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Hepatomegaly,... OMIM:615559
Immunodeficiency 21
Myeloid leukemia, Recurrent viral infections, Aplastic anemia, Anemia, Reduced natural killer cel... OMIM:614172
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, B lymphocytopenia, Complete or near-complete absenc... OMIM:300755
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disea... OMIM:615561
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Neutropenia,... OMIM:619752
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Recurrent sinopulmonary infections, Autoim... OMIM:619846
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent otitis... OMIM:618523
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Recurrent lower respiratory tract infections, Re... OMIM:615139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... OMIM:600802
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, Recurrent fungal infections, B lymphocytopeni... OMIM:102700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Feeding difficulties, Decreased circulating IgA level, Recurrent lower respiratory tract infectio... OMIM:617744
Complement Factor D Deficiency
Partial functional complement factor D deficiency, Recurrent bacterial infections OMIM:613912
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Recurrent lower res... OMIM:619774
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutrop... OMIM:304790
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300636
Immunodeficiency 104
Gastroesophageal reflux, Failure to thrive secondary to recurrent infections, Hepatomegaly, T lym... OMIM:608971
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... OMIM:202700
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Pyloric stenosis, Recurren... OMIM:615577
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Chronic oral candidiasis, Chronic diarrhea, Hepatosplenomegaly, Recurrent bacterial skin... ORPHA:911
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Recurrent lowe... OMIM:615758
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia, Increased circulating IgE level, Brittle hai... OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Melanin pigment aggregation in hair shafts, Hemophagocytosis, Recurrent bacte... OMIM:607624
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Increased circulating IgE level, Short stature, Thyroiditis, Postnatal growth re... OMIM:618985
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Complement Component 8 Deficiency, Type Ii
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections OMIM:613789
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Meningitis, Skin rash, Anemia, Sepsi... ORPHA:47
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent shingles, Recurrent lower respiratory tract infections, Recurrent he... ORPHA:183675
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Peeling Skin Syndrome 1
Onycholysis, Increased circulating IgE level, Brittle hair, Short stature, Eosinophilia, Nail dys... OMIM:270300
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat... ORPHA:444463
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 76
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchio... OMIM:619164
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Pancytopenia, De... OMIM:616873
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Griscelli Syndrome
Jaundice, Abnormal eyelash morphology, Leukopenia, Abnormal eyebrow morphology, Premature graying... ORPHA:381
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Bronchiectasis, Recurrent upper ... OMIM:193670
Aspergillosis
Pleuritis, Chronic pulmonary obstruction, Dyspnea, Sinusitis, Unusual CNS infection, Abnormality ... ORPHA:1163
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Recurrent viral infectio... OMIM:618048
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Autoinflammation With Infantile Enterocolitis
Meningitis, Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Thro... OMIM:616050
Xq28 (MECP2) duplication
Recurrent respiratory infections, Gastroesophageal reflux, Decreased circulating IgA level, Const... DECIPHER:45
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Recurrent infections, Increased circulating antibody level, Hem... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell activity, Hepatomegaly, Increa... OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Di... OMIM:601457
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... OMIM:619437
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Tularemia
Leukocytosis, Cutaneous abscess, Confusion, Erythema nodosum, Increased circulating antibody leve... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Hepatomegaly, Increased circulating IgM level, Decreased... OMIM:603909
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Abnormal eyelash morphology, Abnormal eyebrow morphology, Abnormality of the a... ORPHA:90368
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Meningitis, Anemia, Sepsis, Ch... OMIM:616740
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to thrive, Hypoalbu... OMIM:613752
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Severe infection, Chronic oral candidiasis, Decrease... ORPHA:83471
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Hepatomegaly, Abnorm... OMIM:226990
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... ORPHA:2442
Reticular Dysgenesis
Recurrent respiratory infections, Chronic otitis media, Leukopenia, Skin rash, Anemia, Sepsis, Ab... ORPHA:33355
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Abscess, Increased cir... OMIM:615816
Shigellosis
Peritonitis, Myocarditis, Bloody mucoid diarrhea, Leukocytosis, Tenesmus, Cholestasis, Abdominal ... ORPHA:810
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosis, Bloody diarrhea, Intest... OMIM:243150
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating corticosterone level, Failure to thrive,... OMIM:610600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Cryptococcal m... ORPHA:90362
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Recurrent infections, Meningitis, Skin ra... ORPHA:33110
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Hemophagocytosis, Colitis, Reduced natural killer cell activity, Hepatom... ORPHA:540
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Partial absence of specific antibody response to Haemophilus influ... OMIM:618986
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis, Pu... OMIM:616069
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Trichorrhexis nodosa, Fine hair, Increased circulati... ORPHA:634
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Abnormality of tumor necrosis factor secret... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Decrease... ORPHA:3261
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal circulating interleukin concentration, Acu... ORPHA:158057
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Recurrent bacterial infections, Lymphopenia,... ORPHA:2688
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Sting-Associated Vasculopathy, Infantile-Onset
Periungual erythema, Paratracheal lymphadenopathy, Nail dystrophy, Sparse hair, Recurrent infecti... OMIM:615934
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... ORPHA:2902
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Nail dystrophy, ... ORPHA:37042
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, EBV meningitis, Hemophagocytosis, Aplastic anemia, Sepsis, Uveitis, Hepatomeg... OMIM:615122
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... OMIM:613860
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Colitis, Decreased circulating total IgA, Abdominal pain, Gastritis, Anoper... OMIM:619381
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Hepatomegaly, Abdominal pain, Abnormal small intestine morphology, Lymphad... ORPHA:100025
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Enlarged kidney, Autoimmune thrombocytopeni... OMIM:613496
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Decreased circulating IgA level, Reduced natural killer cell count, ... OMIM:242860
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... OMIM:601495
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... OMIM:267700
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Decreased circulating anti... OMIM:615190
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... OMIM:301081
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Abnorma... OMIM:613179
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy, Anemia OMIM:312500
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Boutonneuse Fever
Maculopapular exanthema, Leukopenia, Cervical lymphadenopathy, Skin rash, Elevated hepatic transa... ORPHA:83313
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating total IgM, Intestinal lym... ORPHA:90363
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency 40
Intermittent diarrhea, Rectal fistula, Eosinophilic granuloma, Focal active colitis, Hepatomegaly... OMIM:616433
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Delayed puberty, Enteroviral hepatitis, Meningitis, Recurrent... OMIM:307200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620126
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Failure to thrive, ... ORPHA:556037
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Hepatomegaly, Rec... OMIM:612840
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Failure to thrive, Hyperkalemia OMIM:203400
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Hepatomegaly, Hepatosplenomegaly, Recurrent ... ORPHA:79124
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia OMIM:620125
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia, Hypoalbuminemia OMIM:603278
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Perianal abscess, Enterocolitis, Pyoderma, Crohn's disease, Folliculitis OMIM:613148
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Immunodeficiency 58
Chronic otitis media, Decreased specific antibody response to vaccination, Colitis, Seborrheic de... OMIM:618131
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... ORPHA:2585
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent viral infections, Abnormal lymphocyte count, Skin rash, ... OMIM:615468
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Severe infection, Abdominal pain, Severe varicella zoster infection, Na... ORPHA:36234
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Failure to thrive, ... ORPHA:556030
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Recurrent staphylococcal infections, Transient ne... OMIM:607676
Immunodeficiency 47
Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased circulating total IgA, Chronic ... OMIM:300972
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... ORPHA:100024
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:177735
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent infections, Autoimmune hemolytic anemia, Atrophic g... OMIM:616576
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Leukopenia, Anemia, Bone marrow hypocellularity, Decreased circ... OMIM:618116
Autosomal Dominant Hyper-Ige Syndrome
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Skin rash, Cough, Increased ... ORPHA:2314
Ebola Hemorrhagic Fever
Dyspnea, Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Cough, Sepsis... ORPHA:319218
Budd-Chiari Syndrome
Peritonitis, Acute hepatic failure, Jaundice, Malabsorption, Gastrointestinal infarctions, Intest... ORPHA:131
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Schnitzler Syndrome
Leukocytosis, Skin rash, Anemia, Hepatomegaly, Arthritis, Increased circulating IgM level, Lympha... ORPHA:37748
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent infections, Recurrent infection of the g... OMIM:615207
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Orchitis, Leukocytosis, Skin rash, Erysipelas, Uveitis, Intestinal obstruction, Myos... ORPHA:32960
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Familial Mediterranean Fever
Peritonitis, Chronic constipation, Orchitis, Meningitis, Leukocytosis, Erysipelas, Hepatomegaly, ... OMIM:249100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Leukocytosis, Dysfunctional alternative complement pathway, Reticulocytosis, Microan... ORPHA:90038
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumulation, Decrease... OMIM:618042
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Fragile nails, Alopecia, Failure to thrive, Increased... OMIM:242150
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Reduced natural killer cell count, ... OMIM:609981
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased specific antibody response to vaccination, Decreased circulating total IgA, Chronic ora... ORPHA:221139
Q Fever
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Unusual infection, Hepatosplenomeg... ORPHA:781
Lymphoproliferative Syndrome 1
Stomatitis, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatom... OMIM:613011
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Hepatomegaly, Decreased circulating IgA level, Reticulocytopenia... OMIM:275350
Fusariosis
Peritonitis, Maculopapular exanthema, Granuloma, Abnormality of the spleen, Abnormality of the li... ORPHA:228119
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Zygomycosis
Peritonitis, Myocarditis, Colitis, Abdominal pain, Gastritis, Nausea, Splenic abscess, Endocardit... ORPHA:73263
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Gastroesophageal reflux, Hashimoto thyroiditis, Hepatomegaly, D... OMIM:613385
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Increased LDL cholesterol concentration, Fair hair OMIM:618808
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Coccidioidomycosis
Peritonitis, Coccidioidal meningitis, Granuloma, Increased circulating IgM level, Abnormality of ... ORPHA:228123
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... OMIM:615952
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Inflammation of the large intestine, Intestinal obstruction, Abdom... ORPHA:26790
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... OMIM:603553
Bloom Syndrome
Acute lymphoblastic leukemia, Recurrent herpes, Severe varicella zoster infection, Acute myeloid ... ORPHA:125
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Autoimmu... OMIM:617388
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Failure to thrive, Thrombocytop... OMIM:613845
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Abscess, A... OMIM:618935
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chole... OMIM:614576
Familial Mediterranean Fever
Peritonitis, Acute hepatic failure, Oral leukoplakia, Orchitis, Meningitis, Skin rash, Erysipelas... ORPHA:342
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
BCGosis, Abnormal circulating interleukin concentration, Lymphadenitis, Severe toxoplasmosis, Coc... ORPHA:319552
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... ORPHA:398063
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... ORPHA:507
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Inflammation of the larg... ORPHA:2137
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularit... OMIM:301078
Hyper-Igd Syndrome
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Leukocytosis, Skin ras... OMIM:260920
Microsporidiosis
Peritonitis, Myocarditis, Abdominal pain, Bronchiolitis, Nausea, Abnormality of the spleen, Decre... ORPHA:2552
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Listeriosis
Peritonitis, Myocarditis, Hepatic granulomatosis, Abdominal pain, Nausea, Splenic abscess, Liver ... ORPHA:533
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level, Truncal obesity, Large for gestational age ORPHA:293964
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level, Recurrent infections ORPHA:99811
Necrotizing Enterocolitis
Peritonitis, Neonatal sepsis, Leukocytosis, Abdominal distention, Bloody diarrhea, Diarrhea, Thro... ORPHA:391673
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Dyskeratosis Congenita, Digenic
Oral leukoplakia, Decreased circulating total IgM, Gastroesophageal reflux, Anemia, Decreased cir... OMIM:620040
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Abdominal pain, Gastritis,... OMIM:619079
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Decreased liver function, Decr... OMIM:301045
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Pleuritis, Leukocytosis, Meningitis, Skin rash, Restric... ORPHA:829
Leukocyte Adhesion Deficiency
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Recurrent fungal infections, I... ORPHA:2968
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Leukocytosis, Hypochromic anemia, Increased circulating IgE lev... OMIM:618213
Prolidase Deficiency
Increased circulating antibody level, Anemia, Elevated circulating aspartate aminotransferase con... OMIM:170100
Hypoadrenocorticism, Familial
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia OMIM:240200
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Eosinophilia, Elevated circulating C-reactive protein concentr... ORPHA:2070
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Feeding difficulties, Pyloric stenosis, Hepatomegaly, Decreased circulating IgA level, Con... OMIM:613327
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Decreased circulating antibody leve... OMIM:617780
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Anemia, Extension of hair growth on temples to late... ORPHA:79273
Inflammatory Skin And Bowel Disease, Neonatal, 1
Onychogryposis, Increased circulating IgE level, Blepharitis, Paronychia, Pustule, Erythroderma OMIM:614328
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Recurrent respiratory infections, Gastroesophageal reflux, Gl... ORPHA:90045
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Primary Peritoneal Carcinoma
Peritonitis, Abdominal distention, Abdominal pain, Constipation, Nausea and vomiting ORPHA:168829
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Failure to thrive in infancy, Hyperkalemia, Glucocortocoid-ins... ORPHA:171876
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula, Folli... OMIM:612567
Legionnaires Disease
Myocarditis, Reduced consciousness/confusion, Jaundice, Endocarditis, Restrictive ventilatory def... ORPHA:549
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... OMIM:619693
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Hemolytic anemia, Abnormality of the live... ORPHA:1572
Good Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Mediastinal lymphadenopathy... ORPHA:169105
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive ORPHA:178029
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Hypoplastic fingerna... ORPHA:2457
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Chronic sinusitis, Recurrent viral ... ORPHA:420741
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... OMIM:208900
Pyoderma Gangrenosum
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Pust... ORPHA:48104
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Failure to thrive, Hyperkalemia OMIM:264350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abnormal intestine morphology, Anemia, Malabsorption, Intestinal obstruction, Hepatomegaly, Recur... OMIM:226300
Immunodeficiency 13
Decreased CD4:CD8 ratio, Recurrent shingles, Lymphopenia, Recurrent otitis media, Recurrent pneum... OMIM:615518
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Skin rash, Increased proportion of CD4-positive T ... OMIM:617099
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... OMIM:266600
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Roifman Syndrome
Hepatosplenomegaly, Hyperconvex nail, Intrauterine growth retardation, Decreased circulating anti... ORPHA:353298
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Esophageal carcinoma, Hepatic bridging fibrosis, Hepatic f... ORPHA:139507
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Immunodeficiency 68
Recurrent meningitis, Abscess, Sepsis, Lymphadenitis, Abnormal natural killer cell count, B lymph... OMIM:612260
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Hemophagocytic Syndrome Associated With An Infection
Abnormal cytokine signaling, Histoplasmosis, Severe cytomegalovirus infection, Chronic active Eps... ORPHA:158048
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... OMIM:142623
Wolcott-Rallison Syndrome
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Decreased... ORPHA:1667
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Increased circulating antibody level, Skin rash, Anemia, Myositis, Hepatome... OMIM:617591
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... ORPHA:824
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Recurrent viral infections, Lymphopenia, Reduced delay... OMIM:242700
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... OMIM:615517
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Failure to thr... OMIM:214700
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Recurrent bacterial infections, Recurrent pneumonia, Decreased circulating... OMIM:613779
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Recurrent abscess formation, Recurrent bacterial inf... OMIM:608233
Genetic Hyperferritinemia Without Iron Overload
Cataract, Abnormal transferrin saturation, Fragile nails, Increased circulating ferritin concentr... ORPHA:254704
Lead Poisoning
Delayed puberty, Abnormal respiratory system physiology, Abnormal T cell morphology, Tubulointers... ORPHA:330015
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Rec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Impaired oxidative burst, Rec... OMIM:233710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... OMIM:619767
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Highly arched eyebrow, Hyponatremia, Failure to thrive OMIM:620157
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Gastrointestinal infarctions, Arthritis, Episcleri... ORPHA:727
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Neutropenia, Chronic oral ... OMIM:150550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... OMIM:617021
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Recurrent respiratory infections, Inflammation of the lar... OMIM:301074
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Stomatitis, Recurrent aphthous stomatitis, Steatorrhea, Abdominal distent... OMIM:212750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Pigmentary retinopathy, Incre... ORPHA:71212
Rosaï-Dorfman Disease