Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Lcp2tm1b(KOMP)Wtsi HET Early adult 4.41×10-07
preweaning lethality, complete penetrance Lcp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
cataract Lcp2tm1b(KOMP)Wtsi HET Early adult 4.41×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
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 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
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
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Cataract 44
Developmental cataract OMIM:616509
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
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, Defective T cell proliferation, Decreased specific ... OMIM:615897
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Aniridia 3
Cataract OMIM:617142
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T... ORPHA:277
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... OMIM:610163
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follicular hyperplas... OMIM:601859
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... ORPHA:169079
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 40
Lymphopenia OMIM:616433
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Galactosemia Iv
Cataract OMIM:618881
Immunodeficiency 8
Lymphopenia OMIM:615401
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Lymphadenopathy, Smooth muscle antibody positivity, Splenomegaly, Fol... OMIM:603909
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... OMIM:187800
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Antinuclear antibody positivity,... OMIM:618048
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
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
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Cataract 47
Cataract, Microcornea OMIM:612018
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Cataract 42
Developmental cataract OMIM:115900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Immunodeficiency 19
Lymphopenia OMIM:615617
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
X-Linked Retinoschisis
Cataract ORPHA:792
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoim... OMIM:614470
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity ORPHA:60026
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Proximal Myotonic Myopathy
Cataract ORPHA:606
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc... ORPHA:449400
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... OMIM:618394
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Mac... OMIM:155100
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Dermoids Of Cornea
Corneal opacity OMIM:304730
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... OMIM:300755
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... OMIM:616005
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... ORPHA:911
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypocellular... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... OMIM:615559
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Nathalie Syndrome
Cataract OMIM:255990
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... OMIM:601399
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... ORPHA:443811
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess, Increased circulating IgE level OMIM:147060
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ne... OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... OMIM:613101
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi... OMIM:102700
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Abnormal number of alpha granules, Impaired throm... OMIM:139090
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity, Hypereosinophilia, Leukocytosis ORPHA:2902
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA level, Leukopenia, F... OMIM:615934
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Cataract 11, Multiple Types
Cataract OMIM:610623
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:277480
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dysequilibrium Syndrome
Cataract ORPHA:1766
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocy... OMIM:613011
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... ORPHA:572
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, ... OMIM:615816
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Immunodeficiency 7
Autoimmunity, Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, Antineutrophil antibody positivi... OMIM:301078
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rheumatoid arthritis, ... ORPHA:275
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly ORPHA:228312
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... OMIM:617388
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Complement defi... ORPHA:449432
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Systemic lupus erythematosus, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellula... OMIM:616871
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... OMIM:605258
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Systemic Lupus Erythematosus 17
Systemic lupus erythematosus, Lymphopenia, Decreased serum complement C3, Leukopenia, Anti-aquapo... OMIM:301080
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... OMIM:616100
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromboc... OMIM:619375
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Pellagra-Like Syndrome
Cataract OMIM:260650
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Retinitis Pigmentosa 40
Cataract OMIM:613801
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Cataract 24
Anterior polar cataract OMIM:601202
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Acquired Partial Lipodystrophy
Decreased serum complement C3, Autoimmunity, Lymphocytosis ORPHA:79087
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Prolonged bleeding tim... OMIM:614074
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Increased c... ORPHA:562639
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Smooth m... ORPHA:2137
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... OMIM:616050
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia OMIM:300835
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Autoimmunity OMIM:615758
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancytopenia, Panhy... ORPHA:79124
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:37042
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity, Decreased serum complement factor I OMIM:613652
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Immunodeficiency 31C
Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia OMIM:614162
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, T... ORPHA:507
Retinitis Pigmentosa 4
Cataract OMIM:613731
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol... ORPHA:330015
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... ORPHA:508533
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Lymphedema, Primary, With Myelodysplasia
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia OMIM:614038
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level ORPHA:2314
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... OMIM:208900
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Morm Syndrome
Cataract ORPHA:75858
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Complement Component C1R/C1S Deficiency
Complement deficiency, Autoimmunity OMIM:216950
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positive, Monoc... ORPHA:91139
Iga Pemphigus
Increased circulating IgA level, Eosinophilia, Monoclonal elevation of circulating IgA, Autoimmun... ORPHA:555905
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Retinitis Pigmentosa 9
Cataract OMIM:180104
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Increase... ORPHA:64744
Pyoderma Gangrenosum
Increased circulating antibody level, Rheumatoid arthritis, Myeloid leukemia ORPHA:48104
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgA level, Decreased serum complement factor ... ORPHA:2298
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract OMIM:212550
Igg4-Related Kidney Disease
Sialadenitis, Increased circulating IgG1 level, Decreased serum complement C3, Complement deficie... ORPHA:449395
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Antineutrophil... ORPHA:90060
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Leukopenia, Hemolytic anemia,... OMIM:152700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimm... ORPHA:48377
Tularemia
Increased circulating antibody level, Leukocytosis, Cervical lymphadenopathy, Anemia, Brain absce... ORPHA:3392
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Lymphopenia, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune ... ORPHA:760
Cahmr Syndrome
Lamellar cataract OMIM:211770
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... ORPHA:90362
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... ORPHA:66628
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... OMIM:615952
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenomegaly, Hepatos... OMIM:612840
Achromatopsia 3
Cataract OMIM:262300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... ORPHA:179494
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Antinuclear antibody positivity, Increased circulating IgG4... ORPHA:449563
Immunodeficiency 33