Gene Summary

Name:
synaptotagmin-like 1
Synonyms:
PSGL-1,  Slp1

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
increased hematocrit Sytl1tm1a(KOMP)Wtsi HOM Early adult 3.04×10-05
increased leukocyte cell number Sytl1tm1a(KOMP)Wtsi HOM Early adult 7.16×10-05
abnormal response to tactile stimuli Sytl1tm1a(KOMP)Wtsi HOM   Early adult 5.17×10-05
abnormal coat/hair pigmentation Sytl1tm1a(KOMP)Wtsi HOM   Early adult 3.89×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 1)
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 1)
Blood vessel N/A homozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Bone N/A homozygote 0.0% (0 of 1)
Brain N/A heterozygote 100% (1 of 1)
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 1)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
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 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
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 0.0% (0 of 1)
Kidney N/A homozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Large intestine N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Lymph node N/A homozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A homozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 100% (1 of 1)
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 Ambiguous
Ovary N/A homozygote Not available
Oviduct N/A heterozygote 100% (1 of 1)
Oviduct N/A homozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Pancreas N/A homozygote 100% (1 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A homozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A homozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A homozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A homozygote Not available
Prostate gland N/A heterozygote Not available
Prostate gland N/A homozygote 0.0% (0 of 1)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 1)
Skeletal muscle tissue N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 100% (1 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Small intestine N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Stomach N/A homozygote 100% (1 of 1)
Striatum N/A heterozygote Not available
Striatum N/A homozygote Not available
Testis N/A heterozygote Not available
Testis N/A homozygote 100% (1 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thymus N/A homozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote Ambiguous
Thyroid gland N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trachea N/A homozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 1)
Uterus N/A homozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 1)
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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood vessel 0.0%
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyer's patch 0.64% (1 of 157)
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 122 images

Human diseases caused by Sytl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sytl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T ce... OMIM:615615
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Myh9-Related Disease
Menorrhagia, Giant platelets, Nephritis, Neutrophil inclusion bodies, Congenital thrombocytopenia... ORPHA:182050
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion bodies, Thrombocyt... OMIM:155100
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Fechtner syndrome
Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Nephritis, Neutrophil inclusion bodies,... OMIM:153640
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Intention tremor OMIM:190200
Bernard-Soulier Syndrome
Macrothrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggrega... OMIM:231200
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Lack of T cell functio... ORPHA:277
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Pelger-Huet Anomaly
Recurrent otitis media, Kyphosis, Giant platelets, Abnormality of neutrophils, Neutropenia, Eczem... OMIM:169400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, B lymphocytopenia, Lymphopenia OMIM:619164
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency 17
Eczema, Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, C... ORPHA:572
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, B lym... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Wiskott-Aldrich Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:301000
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Part... ORPHA:35078
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet volume OMIM:153670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Eczema, Increased circulating IgE... OMIM:313900
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Absent natural killer cells, Abnormality of... OMIM:600802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Decreased circulating IgG level, Leuk... OMIM:613011
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Erythro... OMIM:603554
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Elevated alpha-fetoprotein, Female hypogonadism, Leukemia, Decrease... OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Decreased proportion of C... ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Autoimmune thr... OMIM:616100
Syndromic Diarrhea
Thrombocytosis, Colitis, Splenomegaly, Abnormality of iron homeostasis, Panhypogammaglobulinemia,... ORPHA:84064
Takenouchi-Kosaki Syndrome
Scoliosis, Thrombocytopenia, Ataxia, Increased mean platelet volume OMIM:616737
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Decreased proportion of memory B cells, He... OMIM:615559
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic arthritis, Decrea... OMIM:617780
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Elevated... OMIM:604250
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:243700
Bernard-Soulier Syndrome
Macrothrombocytopenia, Menorrhagia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Imp... ORPHA:274
Urocanase Deficiency
Fair hair, Blue irides, Tremor OMIM:276880
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Lumbosacral meningocele, Acanthocytosis, Hyperbilirubinemia, ... OMIM:607330
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Athetosis OMIM:257800
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating total IgM, Kyphosis, Decreased circulating... OMIM:300861
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Colitis, Autoimmune throm... ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Increased circulating IgM level, Decreased circulating I... OMIM:242860
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:540
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Increased circulating antibody level, Splenomegaly ORPHA:100024
Annular Pancreas
Annular pancreas, Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Annular pancreas, Duodenal stenosis, High intestinal obstruction OMIM:167750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... OMIM:222470
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Hypopigmentation of hair, Albinism OMIM:614072
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hashimoto thyroidi... ORPHA:275
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Decreased eosinophil count, Increased circulati... OMIM:619632
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Ataxia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Neutropenia, ... OMIM:209920
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Decre... OMIM:240500
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Severe plat... ORPHA:508533
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent otitis media, Pneumonia, Autoimmune thrombocytopenia, Platyspondyly,... OMIM:607944
Thymic Aplasia
Sinusitis, T lymphocytopenia, Pneumonia, Coombs-positive hemolytic anemia, Decreased proportion o... ORPHA:83471
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Infectious encephalitis, Myocarditis, N... ORPHA:292
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Premature graying of hair, Leukemia, Myeloid leukemia, Aplastic anemia OMIM:614743
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, D... OMIM:615122
Chediak-Higashi Syndrome
Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Hypopigmentati... OMIM:214500
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating total IgG, Decre... ORPHA:221139
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Lymphopenia, Tr... ORPHA:100
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Ataxia, Abscess, ... OMIM:615816
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Splenomegaly, A... ORPHA:549
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Reduced natural kille... OMIM:619381
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA ... OMIM:615934
Aspergillosis
Eosinophilia, Sinusitis, Abnormality of the vertebral column, Pneumonia, Infectious encephalitis,... ORPHA:1163
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Hypoproteinemia, Decreased prop... ORPHA:90362
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Immunodeficiency 22
Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Avian Influenza
Leukopenia, Pneumonia, Infectious encephalitis, Elevated circulating C-reactive protein concentra... ORPHA:454836
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial ... ORPHA:139402
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Increased circulating myelocyte count, Hepatitis, ... ORPHA:36234
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Hypopigmented skin patches, A... ORPHA:381
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Nijmegen Breakage Syndrome
Sinusitis, T lymphocytopenia, Recurrent pneumonia, Dysgammaglobulinemia, Autoimmune hemolytic ane... OMIM:251260
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Recurrent otitis media, Hyponatremia, Autoim... ORPHA:293978
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Arthritis ORPHA:42642
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Abnormal leukocyte morphology, Anemia, Sparse scalp ha... ORPHA:3322
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Primary amenorrhea, Decreased proportion of CD4-positive helper T ce... ORPHA:66628
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Zika Virus Disease
Arthritis, Increased circulating IgM level, Infectious encephalitis, Maculopapular exanthema, Mis... ORPHA:448237
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal proportion of CD4-positive T cells, Dysmetria, Decreased proportion of CD8-... ORPHA:217260
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Primary amenorrhea, Decreased proportion of CD4-positive helper T ce... ORPHA:179494
Cartilage-Hair Hypoplasia
Fair hair, Congenital hypoplastic anemia, Sparse eyebrow, Fine hair, Impaired lymphocyte transfor... OMIM:250250
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Ataxia, Decreased circulating antibody level,... OMIM:616084
Typhoid
Infectious encephalitis, Splenomegaly, Ataxia, Skin rash ORPHA:99745
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Thoracic scoliosis, Premature ovarian insufficiency, Hyperg... ORPHA:2959
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Whipple Disease
Myositis, Uveitis, Hyponatremia, Erectile dysfunction, Infectious encephalitis, Splenomegaly, Ata... ORPHA:3452
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Eczema, Panniculi... ORPHA:508542
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Abnormal serum interferon-gamma level, Infectious encephalitis, Autoimmune th... ORPHA:391487
Rift Valley Fever
Uveitis, Increased circulating IgG level, Increased circulating IgM level, Infectious encephaliti... ORPHA:319251
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Hermansky-Pudlak Syndrome 11
Fair hair, Albinism, Iris transillumination defect, Ocular albinism, Melanocytic nevus, Reduced p... OMIM:619172
Gm1 Gangliosidosis
Hepatosplenomegaly, Abnormal form of the vertebral bodies, Kyphosis, Infectious encephalitis, Spl... ORPHA:354
Listeriosis
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Infectious encephalitis, Myocarditis, B... ORPHA:533
Q Fever
Hepatosplenomegaly, Pneumonia, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, S... ORPHA:781
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Tremor ORPHA:79254
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia ORPHA:70472
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Leukocytosis, Uveitis, Arthritis, Orchitis, Peritonitis, Splenomegaly, Elev... ORPHA:32960
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Alg12-Cdg
Recurrent pneumonia, Abnormal circulating IgA level, Hyponatremia, Partial absence of specific an... ORPHA:79324
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Red hair OMIM:614613
Chédiak-Higashi Syndrome
Pancytopenia, Hypopigmentation of hair, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocyto... ORPHA:167
Scrub Typhus
Infectious encephalitis, Splenomegaly, Myocarditis, Anterior uveitis, Skin rash ORPHA:83317
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Multiple Myeloma
Increased circulating IgG level, Elevated circulating creatinine concentration, Hypercalcemia, Ve... ORPHA:29073
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Ele... OMIM:249100
Primary Sjögren Syndrome
Decreased serum complement C4, Optic neuritis, Chronic hepatitis, Decreased proportion of CD4-pos... ORPHA:289390
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Incontinentia Pigmenti
Eosinophilia, Atrophic, patchy alopecia, Abnormality of skin pigmentation, Leukocytosis, Coarse h... OMIM:308300
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
American Trypanosomiasis
Infectious encephalitis, Splenomegaly, Myocarditis, Skin rash ORPHA:3386
Marburg Hemorrhagic Fever
Hypokalemia, Uveitis, Elevated circulating creatinine concentration, Maculopapular exanthema, Pan... ORPHA:99826
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Abnormality of neutrophil physiology, Otitis media, Con... ORPHA:2968
Igg4-Related Kidney Disease
Decreased serum complement C4, Elevated circulating creatinine concentration, Prostatitis, Arteri... ORPHA:449395
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, White hair, Lymphopenia, Fine hair ORPHA:935
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid carcinoma, Pituitary null cell adenoma, Pituita... ORPHA:276152
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Cleft vertebral arch, Superficial dermal perivascular inflammato... ORPHA:83617
Hartnup Disease
Infectious encephalitis, Ataxia, Skin rash ORPHA:2116
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis, Hyperammonemia ORPHA:1194
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Incontinentia Pigmenti
Eosinophilia, Uveitis, Infectious encephalitis, Scoliosis, Spina bifida occulta, Gait disturbance... ORPHA:464
Lyme Disease
Infectious encephalitis, Uveitis, Arthritis ORPHA:91546
Meningococcal Meningitis
Infectious encephalitis, Elevated circulating C-reactive protein concentration, Skin rash ORPHA:33475
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Athetosis, Anemia, Ocular albinism, Iris hypopigmentation ORPHA:2719
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Abnormal circulating interleukin concentration ORPHA:363558
Cysticercosis
Abnormality of the vertebral column, Infectious encephalitis, Ataxia, Iridocyclitis, Increased ci... ORPHA:1560
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Tremor ORPHA:98794
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Zygomycosis
Sinusitis, Pericarditis, Gastritis, Infectious encephalitis, Colitis, Endocarditis, Myocarditis, ... ORPHA:73263
Alexander Disease
Short neck, Kyphosis, Infectious encephalitis, Hyperlordosis, Ataxia, Scoliosis, Gait disturbance ORPHA:58
Japanese Encephalitis
Hyponatremia, Increased circulating IgM level, Infectious encephalitis, Neutrophilia, Increased c... ORPHA:79139
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Neutrop... ORPHA:79430
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Arthritis, Skin rash ORPHA:779
Vici Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Decreased proportion of CD4-pos... OMIM:242840
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Normochromic anemia, Reduced hematocrit, Normocytic anemia ORPHA:91500
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Nocardiosis
Pericarditis, Pneumonia, Lymphadenitis, Cutaneous abscess, Infectious encephalitis, Scleritis, Pe... ORPHA:31204
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Ataxia, Increased red blood cell count, Granuloma,... ORPHA:68
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Infectious encephalitis ORPHA:847
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Poliomyelitis
Infectious encephalitis, Inability to walk, Myelitis ORPHA:2912
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Degcags Syndrome
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentati... OMIM:619488
Immunoglobulin A Vasculitis
Orchitis, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash ORPHA:761
Cerebral Visual Impairment
Infectious encephalitis ORPHA:447788
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Frontal upsweep of hair, Generalized hypo... OMIM:176270
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperpigmentation of the skin, Iris hypop... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:398073
Chikungunya
Erythema nodosum, Infectious encephalitis, Maculopapular exanthema, Synovitis, Crusting erythemat... ORPHA:324625
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Vulvovaginitis, Allergic Seminal
Vaginitis OMIM:193450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Infectious encephalitis, Scoliosis, Hyperlipidemia, Hyponatremia ORPHA:293987
Hypoplasminogenemia
Decreased level of plasminogen, Periodontitis, Cervicitis ORPHA:722
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, Pigmentary retinopathy, Ret... OMIM:219800
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Blue irides, Red hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Vaginal Atresia
Cervicitis, Primary amenorrhea ORPHA:65681

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sytl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sytl1.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)