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Gene: Lcp2 MGI:1321402

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Gene Summary

Name:
lymphocyte cytosolic protein 2
Synonyms:
SLP-76,  SLP76,  twm,  m1Khoe

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
preweaning lethality, complete penetrance Lcp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
cataract Lcp2tm1b(KOMP)Wtsi HET Early adult 4.41×10-07
abnormal lens morphology Lcp2tm1b(KOMP)Wtsi HET Early adult 4.41×10-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Lcp2 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 Lcp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374

The table below shows human diseases predicted to be associated to Lcp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase antibody positivity,... ORPHA:277
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract OMIM:618881
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Nathalie Syndrome
Cataract ORPHA:2663
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin lev... ORPHA:98813
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc... OMIM:618048
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Cataract 47
Microcornea, Cataract OMIM:612018
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia ORPHA:60026
X-Linked Retinoschisis
Cataract ORPHA:792
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Proximal Myotonic Myopathy
Cataract ORPHA:606
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating... OMIM:618394
Immunodeficiency 27A
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Incr... OMIM:209950
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo... OMIM:155100
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... OMIM:618261
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Dermoids Of Cornea
Corneal opacity OMIM:304730
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Lymph node hypoplasia, Decreased circulating total IgM, B ... OMIM:300755
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM le... OMIM:616005
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... ORPHA:3261
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Nathalie Syndrome
Cataract OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy... OMIM:601399
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Rheumatoid factor po... ORPHA:443811
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Lymphadenopathy, Anem... OMIM:304790
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Immunodeficiency 22
Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating I... OMIM:615758
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity ORPHA:2902
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Dysequilibrium Syndrome
Cataract ORPHA:1766
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level... OMIM:615934
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... OMIM:231200
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Immunodeficiency 23
Hemolytic anemia, Rheumatoid factor positive, Abscess, Eosinophilia, Increased circulating IgE le... OMIM:615816
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 ratio, Autoimmune throm... ORPHA:572
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu... OMIM:187900
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp... OMIM:617388
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Juve... ORPHA:275
Activated Pi3K-Delta Syndrome
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Lymphadenopathy, Increased circ... ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... OMIM:301078
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, En... ORPHA:449432
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... OMIM:614420
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythematosus, Leuko... OMIM:301080
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,... OMIM:616871
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa... OMIM:153670
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Aniridia 3
Aniridia, Cataract OMIM:617142
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuclear antibody ... OMIM:619375
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Cataract 24
Anterior polar cataract OMIM:601202
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Splenomegaly,... ORPHA:2137
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Acquired Partial Lipodystrophy
Autoimmunity, Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cataract 48
Cataract OMIM:618415
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Anti-thyroi... ORPHA:37042
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Congenital Varicella Syndrome
Cataract ORPHA:291
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:507
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
C1Q Deficiency 1
Autoimmunity, Decreased circulating complement factor I concentration, Systemic lupus erythematosus OMIM:613652
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... ORPHA:540
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Ataxia-Telangiectasia
Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig... OMIM:208900
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun... ORPHA:555905
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 9
Cataract OMIM:180104
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... ORPHA:83471
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... ORPHA:91139
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Cahmr Syndrome
Lamellar cataract OMIM:211770
Tularemia
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopat... ORPHA:3392
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase anti... ORPHA:64744
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, Splenomegaly, ... ORPHA:158061
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Autoimmunity, Decreased circulating complement factor B concentration, Increase... ORPHA:2298
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Systemic Lupus Erythematosus
Hemolytic anemia, Antiphospholipid antibody positivity, Antinuclear antibody positivity, Systemic... OMIM:152700
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Myeloma, Multiple
Paraproteinemia OMIM:254500
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnormal lymph node... OMIM:612840
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... OMIM:615952
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Thymoma
Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal ly... ORPHA:99867
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Anti-thyroid peroxidase antibody positivit... OMIM:615577
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Antinuclear antibody positivity, Orchitis, Increa... ORPHA:449563
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Igg4-Related Kidney Disease
Rheumatoid factor positive, Eosinophilia, Increased circulating IgG4 level, Antinuclear antibody ... ORPHA:449395
Retinitis Pigmentosa 84
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