Gene Summary

Name:
SPNS lysolipid transporter 2, sphingosine-1-phosphate
Synonyms:
N/A

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 pupil morphology Spns2tm1a(KOMP)Wtsi HOM   Early adult 1.11×10-05
abnormal eye pigmentation Spns2tm1a(KOMP)Wtsi HOM Early adult 1.23×10-23
decreased circulating LDL cholesterol level Spns2tm1a(KOMP)Wtsi HOM Early adult 1.48×10-05
narrow eye opening Spns2tm1b(KOMP)Wtsi HOM Early adult 8.60×10-09
absent pinna reflex Spns2tm1a(KOMP)Wtsi HOM Early adult 3.30×10-28
abnormal eyelid aperture Spns2tm1a(KOMP)Wtsi HOM Early adult 4.16×10-06
abnormal cornea morphology Spns2tm1b(KOMP)Wtsi HOM Early adult 9.77×10-11
decreased circulating HDL cholesterol level Spns2tm1a(KOMP)Wtsi HOM Early adult 1.82×10-08
abnormal eye size Spns2tm1a(KOMP)Wtsi HOM Early adult 4.37×10-07
decreased leukocyte cell number Spns2tm1b(KOMP)Wtsi HOM Early adult 4.08×10-39
excessive tearing Spns2tm1a(KOMP)Wtsi HOM Early adult 4.48×10-06
decreased bone mineral content Spns2tm1b(KOMP)Wtsi HOM Early adult 3.36×10-05
abnormal iris morphology Spns2tm1b(KOMP)Wtsi HOM Early adult 9.70×10-05
decreased circulating cholesterol level Spns2tm1a(KOMP)Wtsi HOM Early adult 1.50×10-07
abnormal iris morphology Spns2tm1a(KOMP)Wtsi HOM Early adult 5.30×10-05
decreased leukocyte cell number Spns2tm1a(KOMP)Wtsi HOM Early adult 1.09×10-16
decreased circulating serum albumin level Spns2tm1a(KOMP)Wtsi HOM   Early adult 7.48×10-05
hyperactivity Spns2tm1a(KOMP)Wtsi HOM   Early adult 6.85×10-06
decreased circulating glucose level Spns2tm1a(KOMP)Wtsi HOM Early adult 1.05×10-05
increased circulating bilirubin level Spns2tm1a(KOMP)Wtsi HOM Early adult 3.15×10-29
abnormal behavior Spns2tm1a(KOMP)Wtsi HOM   Early adult 1.67×10-06
corneal opacity Spns2tm1a(KOMP)Wtsi HOM Early adult 5.26×10-20
abnormal cornea morphology Spns2tm1a(KOMP)Wtsi HOM Early adult 4.38×10-19
corneal vascularization Spns2tm1b(KOMP)Wtsi HOM Early adult 5.05×10-11
corneal opacity Spns2tm1b(KOMP)Wtsi HOM Early adult 5.05×10-11
increased bone mineral density Spns2tm1a(KOMP)Wtsi HOM   Early adult 1.72×10-06
increased mean corpuscular hemoglobin Spns2tm1b(KOMP)Wtsi HOM Early adult 1.22×10-05
abnormal rib morphology Spns2tm1a(KOMP)Wtsi HOM Early adult 2.80×10-05
absent pinna reflex Spns2tm1b(KOMP)Wtsi HOM Early adult 9.77×10-11
corneal vascularization Spns2tm1a(KOMP)Wtsi HOM Early adult 2.29×10-19
trunk curl Spns2tm1b(KOMP)Wtsi HOM Early adult 8.60×10-09
abnormal eye morphology Spns2tm1a(KOMP)Wtsi HOM Early adult 2.54×10-08

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 11)
Adrenal gland N/A homozygote 0.0% (0 of 1)
Aorta N/A heterozygote Not available
Aorta N/A homozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 11)
Blood vessel N/A homozygote 0.0% (0 of 1)
Bone N/A heterozygote 100% (11 of 11)
Bone N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 100% (11 of 11)
Brain N/A homozygote 100% (1 of 1)
Brainstem N/A heterozygote Not available
Brainstem N/A homozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 11)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 11)
Cartilage tissue N/A homozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote Not available
Cerebellum N/A homozygote Not available
Cerebral cortex N/A heterozygote Not available
Cerebral cortex N/A homozygote Not available
Eye N/A heterozygote 81.82% (9 of 11)
Eye N/A homozygote 100% (1 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 11)
Gall bladder N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 11)
Heart N/A homozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote Not available
Hippocampus N/A homozygote Not available
Hypothalamus N/A heterozygote Not available
Hypothalamus N/A homozygote Not available
Kidney N/A heterozygote 100% (11 of 11)
Kidney N/A homozygote 100% (1 of 1)
Large intestine N/A heterozygote 0.0% (0 of 11)
Large intestine N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 90.91% (10 of 11)
Liver N/A homozygote 100% (1 of 1)
Lower urinary tract N/A heterozygote 90.91% (10 of 11)
Lower urinary tract N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 45.45% (5 of 11)
Lung N/A homozygote 100% (1 of 1)
Lymph node N/A heterozygote 100% (11 of 11)
Lymph node N/A homozygote 100% (1 of 1)
Mammary gland N/A heterozygote 27.27% (3 of 11)
Mammary gland N/A homozygote 100% (1 of 1)
Esophagus N/A heterozygote 100% (11 of 11)
Esophagus N/A homozygote 100% (1 of 1)
Olfactory lobe N/A heterozygote Not available
Olfactory lobe N/A homozygote Not available
Ovary N/A heterozygote 18.18% (2 of 11)
Ovary N/A homozygote 100% (1 of 1)
Oviduct N/A heterozygote 36.36% (4 of 11)
Oviduct N/A homozygote 100% (1 of 1)
Pancreas N/A heterozygote 45.45% (5 of 11)
Pancreas N/A homozygote 100% (1 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 11)
Parathyroid gland N/A homozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 54.55% (6 of 11)
Peripheral nervous system N/A homozygote 100% (1 of 1)
Peyer's patch N/A heterozygote 81.82% (9 of 11)
Peyer's patch N/A homozygote 100% (1 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 11)
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 11)
Prostate gland N/A homozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 11)
Skeletal muscle tissue N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 100% (11 of 11)
Skin N/A homozygote 100% (1 of 1)
Small intestine N/A heterozygote 9.09% (1 of 11)
Small intestine N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (11 of 11)
Spinal cord N/A homozygote 100% (1 of 1)
Spleen N/A heterozygote 54.55% (6 of 11)
Spleen N/A homozygote 100% (1 of 1)
Stomach N/A heterozygote 100% (11 of 11)
Stomach N/A homozygote 100% (1 of 1)
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Testis N/A heterozygote 54.55% (6 of 11)
Testis N/A homozygote Not available
Thymus N/A heterozygote 18.18% (2 of 11)
Thymus N/A homozygote 100% (1 of 1)
Thyroid gland N/A heterozygote 9.09% (1 of 11)
Thyroid gland N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 9.09% (1 of 11)
Trachea N/A homozygote 100% (1 of 1)
Uterus N/A heterozygote 18.18% (2 of 11)
Uterus N/A homozygote 100% (1 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 11)
White adipose tissue N/A homozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

Images Slit Lamp

27 Images

Histopathology

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 207 images

View all 58 images

View all 12 images

View all 8 images

View all 6 images

Human diseases caused by Spns2 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 Spns2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457

The table below shows human diseases predicted to be associated to Spns2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
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 8
Lymphopenia OMIM:615401
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Splenomeg... OMIM:617388
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Conjunctivitis, B lymphocytopenia, T lymphocytopenia OMIM:601457
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Ectopia lentis OMIM:238700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Winchester Syndrome
Generalized osteoporosis, Corneal opacity, Carpal osteolysis, Osteolysis involving tarsal bones OMIM:277950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... ORPHA:277
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Spondylo-Ocular Syndrome
Abnormal antihelix morphology, Abnormal eyebrow morphology, Retinal detachment, Joint hyperflexib... ORPHA:85194
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corn... OMIM:158310
Galactosialidosis
Corneal opacity ORPHA:351
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Aniridia 1
Ptosis, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorio... OMIM:106210
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Oculoauricular Syndrome
Morning glory anomaly, Microcornea, Cataract, Iris cyst, Microphthalmia, Microphakia, Retinal det... OMIM:612109
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Intention tremor, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypers... OMIM:610539
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Telangiectasia, Ectropion, Corneal neovascularization, Choreoathetosis, Cataract, Entr... OMIM:278730
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Kid Syndrome
Keratitis, Sparse eyebrow, Sepsis, Acne inversa, Punctate keratitis, Severe sensorineural hearing... ORPHA:477
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Recur... OMIM:607624
Immunodeficiency 104
Splenomegaly, Otitis media, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Skin rash... ORPHA:290
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Morquio Syndrome C
Corneal opacity OMIM:252300
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eos... OMIM:243700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Pneumoni... ORPHA:276
Holoprosencephaly, Recurrent Infections, And Monocytosis
Abnormal pinna morphology, Recurrent skin infections, Monocytosis, Epicanthus, Recurrent infections OMIM:610680
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Maculopapu... OMIM:619644
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM, Downslanted palpebral fissures,... ORPHA:2643
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contracture OMIM:160565
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... OMIM:608470
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of class-s... OMIM:618944
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Flexion contracture, B lymphocytopenia OMIM:619851
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... OMIM:616022
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... OMIM:616005
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... ORPHA:331206
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Sepsis, Eczema, Chronic sinu... ORPHA:443811
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Abnormal posturing, Arm dystonia, Generalize... OMIM:619565
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Rotor Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM, Downslanted palpebral fissures,... OMIM:251190
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Optic atrophy, Optic disc pallor, Sclerosis of finger phalanx, Limb joint contracture,... ORPHA:404454
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Vici Syndrome
Recurrent viral infections, Cutaneous anergy, Hypopigmentation of the fundus, Dilated cardiomyopa... OMIM:242840
Infantile Sialic Acid Storage Disease
Fair hair, Vacuolated lymphocytes, Splenomegaly, Hypopigmentation of the skin, Osteopenia, Epican... OMIM:269920
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Cataract, Hypoalbuminemia, Microphthalmia, Reduced sys... OMIM:618805
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Fair h... OMIM:608233
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Trichothiodystrophy 3, Photosensitive
Low-set ears, Ectropion, Lymphopenia, Increased circulating IgA level, Microphthalmia, Cataract, ... OMIM:616395
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy, Anemia, T... ORPHA:673
Immunodeficiency 20
Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent... OMIM:615707
Warburg-Cinotti Syndrome
Conductive hearing impairment, Ankle flexion contracture, Flexion contracture of finger, Hypoplas... OMIM:618175
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Dermatochalasis, Osteopenia, B lymphocytopenia, Decreased specific antibody response to vaccinati... ORPHA:221139
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Retinal degeneration, Concentric hypertrophic cardiomyopathy, Macular deg... OMIM:204200
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, El... OMIM:175780
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Type I d... OMIM:614700
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, P... OMIM:307200
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hy... OMIM:616834
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... OMIM:600802
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Proteus-Like Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Splenomegaly, Retinal detachment, Limbal ... ORPHA:2969
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Purine Nucleoside Phosphorylase Deficiency
Otitis media, Recurrent opportunistic infections, Impaired T cell function, Tremor, Pneumonia, Re... OMIM:613179
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Flexion contracture of f... ORPHA:485
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Decreased nerve conduction velocity, Splenomegaly, Abnormal dense granu... OMIM:214500
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Woolly Hair
Abnormal pupil morphology, Hypopigmentation of hair, Abnormal retinal morphology, Cataract, Spars... ORPHA:170
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Recurrent viral infections, De... OMIM:606367
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Cataract, Increased bone density w... OMIM:136300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Macular atrophy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Microphtha... OMIM:616171
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormal pupil morphology, Abnormal anterior c... ORPHA:3163
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... OMIM:612541
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Alpha-Mannosidosis
Corneal opacity, Craniofacial hyperostosis, Abnormal helix morphology, Type II diabetes mellitus,... ORPHA:61
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Sialidosis Type 2
Corneal opacity, Flexion contracture, Splenomegaly, Abnormal macular morphology, Osteoporosis, Tr... ORPHA:87876
Nail-Patella Syndrome
Sensorineural hearing impairment, Microphakia, Microcornea, Limited elbow extension, Keratoconus,... OMIM:161200
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract, Microphthalmia ORPHA:2528
22Q11.2 Deletion Syndrome
Overfolded helix, Impaired T cell function, Optic atrophy, Downslanted palpebral fissures, Catara... ORPHA:567
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Epiphora, Corneal dystrophy OMIM:122100
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
2Q24 Microdeletion Syndrome
Microphthalmia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Downslanted palpebral... ORPHA:1617
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopo... OMIM:259720
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased lacrimation, Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, ... OMIM:242150
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Joint hypermobilit... OMIM:619752
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Cataract, Bilateral microphthalmos, Joint laxity, Hearing impairment OMIM:608763
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Corneal opacity, Osteopenia, Hepatosplenomegaly, Mixed hearing impairm... ORPHA:309288
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Wiskott-Aldrich Syndrome
Melena, Sepsis, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed... OMIM:301000
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Camptodactyly of finger, Microcornea, Osteoporosis, Hypoglycemia, Long eyelashe... ORPHA:48431
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Protruding ear, Microphthalmia, Upslanted palpebral fissure, Myopic astigmatism,... OMIM:152950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Cataract, Hearing impairment OMIM:165300
Maternal Uniparental Disomy Of Chromosome 1
Uplifted earlobe, Panhypogammaglobulinemia, Cataract, Recurrent infections, Type I diabetes melli... ORPHA:251009
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Skin rash, Retinal pigment epithelial mottling, Chorioret... ORPHA:448237
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Juvenile Temporal Arteritis
Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Symblepharon, Trichiasis, Keratoconjunctivitis sicca, Chemosis, Corneal erosion, Neutr... ORPHA:95455
Waardenburg Syndrome Type 1
Sprengel anomaly, Thick eyebrow, Hypopigmentation of hair, Telecanthus, Lacrimation abnormality, ... ORPHA:894
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal erosion OMIM:122400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Bone marrow hyp... ORPHA:1830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Thick eyebrow, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Epicanthus, Syno... ORPHA:3268
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Mucolipidosis Type Iii
Corneal opacity, Craniofacial hyperostosis, Reduced bone mineral density ORPHA:577
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunc... OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hemophagocytosis, Aplastic anemia, Pancyto... OMIM:308240
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Leukocytosis, Decreased sensory nerv... ORPHA:206594
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Reduced bone mineral density ORPHA:2370
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Isolated 5
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... OMIM:611040
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Recurrent fungal infections, Eczematoid dermatitis, Joint hypermobility, Ski... OMIM:147060
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Cataract, Hearing impairment, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... OMIM:609218
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopa... ORPHA:137902
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... OMIM:615559
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity, Splenomegaly, Cardiomyopathy, Rhinitis, Limita... ORPHA:93476
Ataxia-Telangiectasia
Tremor, Leukemia, Decreased circulating IgA level, Intention tremor, Conjunctival telangiectasia,... OMIM:208900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Thrombocytopenia, Panc... ORPHA:79124
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ... OMIM:212550
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, Retinal dystrop... OMIM:251270
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Impaired glucose t... OMIM:610947
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation OMIM:237450
Familial Dysautonomia
Recurrent fractures, Corneal opacity, Abnormal pupil morphology, Alacrima, Orthostatic hypotensio... ORPHA:1764
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... OMIM:136120
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Mucopolysaccharidosis-Plus Syndrome
Pectus excavatum, Flexion contracture, Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Cho... OMIM:617303
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Congenital Erythropoietic Porphyria
Corneal ulceration, Anisocytosis, Osteopenia, Osteolysis, Reduced haptoglobin level, Reticulocyto... ORPHA:79277
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Cofs Syndrome
Sensorineural hearing impairment, Joint stiffness, Abnormality of retinal pigmentation, Camptodac... ORPHA:1466
Specific Granule Deficiency 2
Low-set ears, Abnormal pinna morphology, Recurrent otitis media, Osteopenia, Sepsis, Recurrent ba... OMIM:617475
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Tremor, Cataract, Neutropenia, Dystonia, Bradycardia OMIM:617248
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Colitis, Viral hepatitis, Recurrent ... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Exudative vitreoretinopathy, Osteopenia, Retinal detachment, Osteoporosis, Joint... ORPHA:2788
Oculocerebral Hypopigmentation Syndrome, Cross Type
Sensorineural hearing impairment, Aplasia/Hypoplasia affecting the eye, Corneal opacity, Choroide... ORPHA:2719
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia OMIM:245900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluc... OMIM:619220
Corneal Dystrophy, Meesmann, 2
Epiphora, Recurrent corneal erosions OMIM:618767
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Decreased circulating total IgM, Recurrent bronchopulmonary infecti... OMIM:610798
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology, O... OMIM:215250
Erythrokeratodermia Variabilis
Corneal opacity, Protruding ear, Hypermelanotic macule, Irregular hyperpigmentation, Skin rash, C... ORPHA:317
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality, Dacryocystitis, Increased bone mineral density, Osteopoikilosis ORPHA:1562
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Insulin resistance, Osteoporosis, Hypoglycemia, Attention deficit hyperactivity di... ORPHA:73272
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Microphthalmia, Buph... OMIM:310600
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Abnormality of retinal pig... ORPHA:14
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, S... OMIM:209950
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Large earlobe, Corneal opacity, Abnormal left ventricular function, Craniosynostosis, Pulmonic st... OMIM:301056
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... OMIM:602562
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Immunodeficiency 23
Vasculitis in the skin, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster... OMIM:615816
Duane Retraction Syndrome
Microcornea, Hypoplastic iris stroma, Abnormal pupil morphology, Short palpebral fissure, Irregul... ORPHA:233