Gene Summary

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

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 4.70×10-05
abnormal coat/hair pigmentation Sytl1tm1a(KOMP)Wtsi HOM   Early adult 3.89×10-05
abnormal response to tactile stimuli Sytl1tm1a(KOMP)Wtsi HOM   Early adult 5.17×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Intention tremor OMIM:190200
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Atopic dermatitis, Incr... OMIM:618944
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Menorrhagia, Giant platelets, Neutro... ORPHA:182050
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:155100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lymphopenia,... ORPHA:277
Slc35A1-Cdg
Neutropenia, Pneumonia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Recurrent otitis media, Hyposegmentation of neutrophil nucl... OMIM:169400
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant platelets OMIM:231200
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, Splenomegaly, B lymphocytopenia, Recurrent pneumonia OMIM:619164
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Decreased cir... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Incr... OMIM:301000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Bronchiectasis, Decreased specific anti-polysaccharide antibody leve... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Increased circulating IgE level, ... OMIM:102700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Increased circulating IgE level, C... OMIM:313900
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Recurrent otitis m... OMIM:600802
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cel... ORPHA:331206
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:619220
Urocanase Deficiency
Tremor, Blue irides, Fair hair OMIM:276880
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Dystonia, Bronchiectasis, Decreased proporti... OMIM:208900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Chronic oral candidiasis, D... OMIM:606367
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia ... OMIM:603554
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased circulating IgE, Decreased baso... OMIM:618394
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, Hypop... ORPHA:33445
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Panhypogammaglobulinemia, Increased... ORPHA:84064
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Scoliosis, Increased mean platelet volume, Ataxia OMIM:616737
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased prop... ORPHA:276
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Amenorrhea, Lymphopenia, Neutropenia, Impotence, An... OMIM:604250
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Lathosterolosis
Lumbosacral meningocele, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Incr... OMIM:607330
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant plate... ORPHA:274
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Pneumonia, Panc... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Increased serum interf... ORPHA:540
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia, Unsteady gait, Decreased circulating IgA level, Decreased circulatin... OMIM:300861
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Splenomegaly ORPHA:100024
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Hashimoto thyr... ORPHA:275
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Colitis, Cholangitis, A... OMIM:209920
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hepatitis... ORPHA:292
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Cervical spinal canal ste... ORPHA:508533
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, T lymphocytopenia, Platyspondyly, Autoimmune thrombocytopenia, Lymphopenia, Recurrent ... OMIM:607944
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Avian Influenza
Myelitis, Lymphopenia, Pneumonia, Thrombocytopenia, Conjunctivitis, Hepatitis, Elevated circulati... ORPHA:454836
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Immunodeficiency 23
Scoliosis, Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, ... OMIM:615816
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Decreased... ORPHA:99867
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Premature ovarian insufficiency, Bronchiectasis, Autoimmu... OMIM:251260
Legionnaires Disease
Endocarditis, Pericarditis, Lymphopenia, Hyponatremia, Ataxia, Hepatitis, Splenomegaly, Encephali... ORPHA:549
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hyperlordosis, Chronic oral candidiasis, Decreased circulating total IgM, Decreased specific anti... ORPHA:221139
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, ... OMIM:275350
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Malar rash, Pus... OMIM:615934
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Scoliosis, Increased mean platelet volume ORPHA:487796
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Aspergillosis
Increased circulating IgE level, Abnormality of the vertebral column, Bronchiectasis, Pneumonia, ... ORPHA:1163
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis... ORPHA:139402
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Elevated circulating C-reactive protein... ORPHA:1304
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hai... OMIM:214500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Ataxia-Telangiectasia
Hypopigmentation of hair, Tremor, Premature graying of hair, Lymphopenia, Multiple cafe-au-lait s... ORPHA:100
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Bronchiectasis, Autoimmune thrombocytopenia, Decreased circulating anti... ORPHA:293978
Pfapa Syndrome
Arthritis, Encephalitis, Splenomegaly ORPHA:42642
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Typhoid
Skin rash, Lethargy, Ataxia, Encephalitis, Splenomegaly ORPHA:99745
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased proportion of CD4-positive helper T cells, Primary amen... ORPHA:66628
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T ... ORPHA:217260
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Premature ovarian insufficiency, Microcytic anemia, Hypergonadotropic hypogona... ORPHA:2959
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Dystonia, Abnormal form of the vertebral bodies, Kyphosi... ORPHA:354
Scrub Typhus
Skin rash, Lethargy, Splenomegaly, Encephalitis, Anterior uveitis, Myocarditis ORPHA:83317
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased proportion of CD4-positive helper T cells, Primary amen... ORPHA:179494
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Thyroiditis, Lymphopeni... ORPHA:391487
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Ataxia, Sideroblastic anemia... OMIM:616084
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Thrombocytopenia, Sparse scalp h... ORPHA:3322
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Whipple Disease
Pericarditis, Erectile dysfunction, Hyponatremia, Uveitis, Ataxia, Splenomegaly, Encephalitis, An... ORPHA:3452
Crigler-Najjar Syndrome
Lethargy, Encephalitis ORPHA:205
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, A... ORPHA:508542
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
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
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Spontaneous abortion, Hepatic granulomatosis, ... ORPHA:533
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Panhypo... OMIM:307200
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Q Fever
Endocarditis, Pericarditis, Cryoglobulinemia, Cholecystitis, Increased circulating antibody level... ORPHA:781
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Reduced platelet dense granules, Iris tr... OMIM:619172
Classic Phenylketonuria
Tremor, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Microsporidiosis
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Sinusit... ORPHA:2552
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
L-2-Hydroxyglutaric Aciduria
Encephalitis ORPHA:79314
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Blue irides, Fair hair OMIM:614613
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Uveitis, Orchitis, Arthritis, Erysipelas, Con... ORPHA:32960
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
American Trypanosomiasis
Skin rash, Myocarditis, Encephalitis, Splenomegaly ORPHA:3386
Multiple Myeloma
Increased circulating IgA level, Elevated circulating creatinine concentration, Decreased circula... ORPHA:29073
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Meningococcal Meningitis
Skin rash, Lethargy, Encephalitis, Elevated circulating C-reactive protein concentration ORPHA:33475
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Familial Mediterranean Fever
Peritonitis, Pericarditis, Leukocytosis, Orchitis, Elevated circulating amyloid A, Erysipelas, El... OMIM:249100
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Dystonia, Elevated alpha-fetoprotein, Ataxia, Decreased circulating IgA level, Leukemia OMIM:208910
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Tremor, Spotty hyperpigmentation, Iri... ORPHA:167
Nipah Virus Disease
Encephalitis ORPHA:99825
Multiple Endocrine Neoplasia Type 4
Parathyroid hyperplasia, Abnormality of pancreas physiology, Parathyroid carcinoma, Esophagitis, ... ORPHA:276152
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Seborrheic dermatitis, Superficial dermal perivascular inflammatory inf... ORPHA:83617
Hartnup Disease
Skin rash, Encephalitis, Ataxia ORPHA:2116
Incontinentia Pigmenti
Scoliosis, Skin rash, Gait disturbance, Uveitis, Keratitis, Encephalitis, Spina bifida occulta, A... ORPHA:464
Rift Valley Fever
Lethargy, Encephalitis ORPHA:319251
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hyperammonemia, Encephalitis ORPHA:1194
Lyme Disease
Uveitis, Encephalitis, Arthritis ORPHA:91546
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Cysticercosis
Iridocyclitis, Abnormality of the vertebral column, Increased circulating antibody level, Ataxia,... ORPHA:1560
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Gait dis... ORPHA:117
Japanese Encephalitis
Dystonia, Increased circulating IgM level, Increased circulating antibody level, Hyponatremia, En... ORPHA:79139
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
New-Onset Refractory Status Epilepticus
Encephalitis, Abnormal serum interleukin level ORPHA:363558
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Abnormality of the nail, Abnor... ORPHA:238468
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Tremor, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Alexander Disease
Scoliosis, Hyperlordosis, Kyphosis, Gait disturbance, Ataxia, Encephalitis, Short neck ORPHA:58
Reynolds Syndrome
Skin rash, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Amoebiasis Due To Free-Living Amoebae
Pustule, Increased red blood cell count, Lethargy, Granuloma, Pneumonia, Ataxia, Encephalitis, Si... ORPHA:68
Yellow Fever
Spontaneous abortion, Lethargy, Encephalitis, Menometrorrhagia ORPHA:99829
Zygomycosis
Peritonitis, Pustule, Nephritis, Endocarditis, Pericarditis, Enterocolitis, Splenic abscess, Acut... ORPHA:73263
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Cerebral Visual Impairment
Encephalitis, Attention deficit hyperactivity disorder ORPHA:447788
Nocardiosis
Peritonitis, Osteomyelitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenit... ORPHA:31204
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Neutropenia, Ocular albinism,... ORPHA:79430
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Encephalitis, Anemia ORPHA:847
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normochromic anemia, Normocytic anemia ORPHA:91500
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism, Anemia ORPHA:2719
Vici Syndrome
Hypopigmentation of hair, Albinism, Decreased proportion of CD4-positive helper T cells, Ocular a... OMIM:242840
Neurocutaneous Melanocytosis
Encephalitis ORPHA:2481
Poliomyelitis
Inability to walk, Myelitis, Encephalitis ORPHA:2912
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Vulvovaginitis, Allergic Seminal
Vaginitis OMIM:193450
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Frontal upsweep of... 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, Coarse hair, Hypopigmentation of hair, Dry hair ORPHA:1974
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Chikungunya
Skin rash, Maculopapular exanthema, Synovitis, Crusting erythematous dermatitis, Encephalitis, Er... ORPHA:324625
Hypoplasminogenemia
Cervicitis, Periodontitis, Decreased level of plasminogen ORPHA:722
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Hyperpigmentation of the skin, Hypopigmentation ... ORPHA:177907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Hyponatremia, Hyperlipidemia, Encephalitis ORPHA:293987
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Carney Complex
Red hair, Hirsutism, Cafe-au-lait spot, Profuse pigmented skin lesions, Hypermelanotic macule, Mu... ORPHA:1359
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottling, Splenomega... OMIM:219800
Acrodysostosis With Multiple Hormone Resistance
Red hair, Blue irides, Fair hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818

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)