Gene Summary

Name:
ubiquitin specific peptidase 15
Synonyms:
Gcap18,  4921514G19Rik,  E430033I05Rik

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 bone mineral content Usp15tm1b(EUCOMM)Wtsi HOM   Early adult 1.77×10-05
increased mean platelet volume Usp15tm1b(EUCOMM)Wtsi HOM Early adult 4.94×10-05
increased leukocyte cell number Usp15em1(IMPC)Marc HOM Early adult 6.14×10-06
increased basophil cell number Usp15em1(IMPC)Marc HOM Early adult 1.10×10-26
increased lean body mass Usp15tm1b(EUCOMM)Wtsi HOM Early adult 2.68×10-06
increased circulating sodium level Usp15tm1b(EUCOMM)Wtsi HOM   Early adult 2.92×10-05
hypoactivity Usp15em1(IMPC)Marc HOM   Early adult 6.86×10-05
female infertility Usp15em1(IMPC)Marc HOM Early adult 0.00
improved glucose tolerance Usp15em1(IMPC)Marc HOM Early adult 7.38×10-06
decreased total body fat amount Usp15tm1b(EUCOMM)Wtsi HOM Early adult 3.03×10-05
increased leukocyte cell number Usp15tm1b(EUCOMM)Wtsi HOM Early adult 1.40×10-08
decreased fasting circulating glucose level Usp15tm1b(EUCOMM)Wtsi HOM Early adult 1.85×10-05
male infertility Usp15em1(IMPC)Marc HOM Early adult 0.00
increased eosinophil cell number Usp15em1(IMPC)Marc HOM Early adult 3.47×10-18
decreased circulating glucose level Usp15tm1b(EUCOMM)Wtsi HOM Early adult 9.54×10-05
decreased circulating fructosamine level Usp15tm1b(EUCOMM)Wtsi HOM Early adult 5.32×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Human diseases caused by Usp15 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 Usp15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Recurrent respiratory i... OMIM:613495
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:615615
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections OMIM:613652
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... OMIM:613500
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level,... OMIM:609529
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia OMIM:613791
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Increased circulating antibody... OMIM:618495
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Halothane Hepatitis
Eosinophilia OMIM:234350
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Recurrent bacterial infections OMIM:613779
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Kimura Disease
Eosinophilia ORPHA:482
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia OMIM:614736
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent ... OMIM:612692
Slc35A1-Cdg
Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function, Sepsis OMIM:267500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:613502
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent pneumonia, Partial absence of specific antibody response to uncon... OMIM:240500
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Anti-thyroid peroxidase antibody positivity, Increased circul... ORPHA:277
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level, Recurrent viral infections, Recurrent bacteri... ORPHA:169079
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Wells Syndrome
Eosinophilia ORPHA:901
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia, Failure to thr... OMIM:613845
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Immunodeficiency 25
Recurrent herpes, Increased circulating IgM level, Increased circulating IgE level, Autoimmune he... OMIM:610163
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia OMIM:618092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmun... ORPHA:444463
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Umbilical hernia,... OMIM:169400
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropen... OMIM:607594
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Increased ci... OMIM:618534
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Alopecia Areata 1
Autoimmunity OMIM:104000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... OMIM:300853
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Autoimmune thrombocytopenia, Recurrent Staphylococ... ORPHA:572
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive OMIM:125800
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Failure to thrive OMIM:304800
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age, Hyperglycem... ORPHA:391673
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Typ... OMIM:304790
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmune thrombocytopenia, Autoimmunity, Increased circulating antibody level, Recurrent infect... OMIM:614470
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Mirage Syndrome
Radial club hand, Lymphopenia, Hyponatremia, Hypoglycemia, Decreased body weight, Thrombocytopeni... OMIM:617053
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Immunodeficiency 81
Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Impaired collagen-induced platelet a... OMIM:619374
Hemochromatosis, Type 4
Impaired glucose tolerance, Impotence, Glucose intolerance, Anemia OMIM:606069
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Recurrent respiratory infections, Recurrent b... OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Leukocytosis ORPHA:83601
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Anticardiolipin IgG an... OMIM:615559
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Failure to thrive OMIM:617718
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive ORPHA:223
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Decreased ci... OMIM:615577
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, ... ORPHA:199299
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Classic Galactosemia
Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea, Gait imbalance, Gait disturba... ORPHA:79239
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Recurrent infections, Autoimmunity ORPHA:704
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Decreased b... ORPHA:1667
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... ORPHA:100924
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Familial Male-Limited Precocious Puberty
Male infertility, Attention deficit hyperactivity disorder, Oligospermia ORPHA:3000
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Camptodactyly, Inguinal hernia, Increased mean platelet volume OMIM:616737
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Immunodeficiency 31C
Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic mucocutaneous candidiasis,... OMIM:614162
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Failure to thrive OMIM:618426
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Autoimmune thrombocytopenia, Recurrent upper respiratory trac... OMIM:613179
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:177735
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Hyponatrem... ORPHA:293978
Lathosterolosis
Osteoporosis, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased mean ... OMIM:607330
Shigellosis
Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Hypoglycemia, Abn... ORPHA:810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Abscess, Eosinophilia OMIM:615816
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556037
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level, Recurrent infections, Recurrent pneumonia OMIM:617780
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:264350
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556030
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Failure to thrive, Hypoglycemia ORPHA:67048
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Failure to thrive in infancy, Hypoglycemia, Abnormal circulating leucine concentr... ORPHA:6
Hyperkalemic Periodic Paralysis
Flexion contracture, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentratio... ORPHA:682
Addison Disease
Generalized bone demineralization, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperu... ORPHA:85138
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Netherton Syndrome
Hypereosinophilia OMIM:256500
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Weight loss, Failure to thrive, Hyperk... ORPHA:361
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Recurrent infections, C3 nephritic factor positivity ORPHA:329918
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive, Hypoglycemia OMIM:617872
Whipple Disease
Insulin resistance, Hyponatremia, Cachexia, Anemia, Splenomegaly ORPHA:3452
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Recurrent urinary tract infections, Onychomy... ORPHA:331235
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Weight loss, Increased circulating renin level, Failure to thrive in infancy, Hyper... ORPHA:171876
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, Increased circulating renin level, ... ORPHA:95409
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Weight loss, Thromb... ORPHA:88673
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hereditary Coproporphyria
Atypical scarring of skin, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Increased circulating ferritin concen... ORPHA:167
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Failure to thrive, Hypochloremia OMIM:214700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmunity, Autoimmu... OMIM:615952
Cholera
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia ORPHA:90790
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Legionnaires Disease
Lymphopenia, Hyponatremia, Cellulitis, Splenomegaly ORPHA:549
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Failure to thrive, Hyperk... ORPHA:90791
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, Partial IgA deficiency, Lack of T c... ORPHA:35078
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Pituitary Apoplexy
Normochromic anemia, Hyponatremia, Hypoglycemia ORPHA:95613
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased circulating ant... OMIM:613011
Porphyria Variegata
Scarring, Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Ataxia, Anemia, Liver abscess, Eosinophilia ORPHA:284
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial in... ORPHA:169090
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytopenia, Inguinal he... ORPHA:487796
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extrame... ORPHA:231222
Sheehan Syndrome
Normochromic anemia, Hyponatremia, Hypoglycemia, Obesity ORPHA:91355
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... ORPHA:760
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Reduced bon... ORPHA:168558
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Reduced bon... ORPHA:289548
Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:427
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:613090
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Brain abscess, Diab... ORPHA:544482
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type ... ORPHA:91
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Vacuolated lymphocytes, Hyponatremia, Weight loss, ... ORPHA:275761
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive OMIM:300200
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Incontinentia Pigmenti
Gait disturbance, Attention deficit hyperactivity disorder, Eosinophilia ORPHA:464
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Scleroderma
Hypereosinophilia ORPHA:801
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Hypoglycemia OMIM:618838
Holoprosencephaly
Hyponatremia, Omphalocele, Hypoglycemia, Failure to thrive in infancy, Congenital diaphragmatic h... ORPHA:2162
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Abnormal thrombo... OMIM:612840
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria OMIM:602522
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Coccidioidomycosis
Abnormal sperm morphology, Granuloma, Abnormality of the spleen, Abscess, Eosinophilia ORPHA:228123
Adenohypophysitis
Normochromic anemia, Hyponatremia ORPHA:95512
Cystinosis, Nephropathic
Decreased plasma carnitine, Rickets, Hypophosphatemic rickets, Hyponatremia, Failure to thrive in... OMIM:219800
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Anemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Diab... OMIM:609069
Panhypophysitis
Normochromic anemia, Hyponatremia ORPHA:95513
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus ORPHA:676
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Infant Botulism
Hyponatremia ORPHA:178478
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Japanese Encephalitis
Neutrophilia, Elbow flexion contracture, Hyponatremia ORPHA:79139
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Antineutrophil antibody positivity, Autoimmunity, Ne... ORPHA:228426
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Panniculitis, Lipodystrophy, Failure to thrive in infancy, Increased proportion of ... OMIM:617099
Igg4-Related Submandibular Gland Disease
Prostatitis, Eosinophilia ORPHA:449432
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Abnormal dental enamel morphology, Hypercholesterolemia, Atypica... ORPHA:534
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Rec... ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:617049
Familial Dysautonomia
Osteolysis, Hyponatremia ORPHA:1764
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Amenorrhea OMIM:110100
Lymphatic Filariasis
Hypereosinophilia, Orchitis ORPHA:2035
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, A... OMIM:227650
47,Xyy Syndrome
Azoospermia, Oligospermia, Hyperactivity, Male infertility, Attention deficit hyperactivity disorder ORPHA:8
Immunodeficiency 58
Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decreased specific a... OMIM:618131
Igg4-Related Ophthalmic Disease
Prostatitis, Orchitis, Eosinophilia ORPHA:449563
Igg4-Related Kidney Disease
Prostatitis, Eosinophilia ORPHA:449395
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Small for gestational age, Failure ... ORPHA:89938
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia, Obesity ORPHA:293987
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Priapism, Increased red cell sickling tendency, Splenomegaly OMIM:603903
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Hyponatremia, Weight loss, Failure to thrive, Hypochloremia, Hyperkalemia ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Thrombocytopenia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum ... ORPHA:731
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Primary Biliary Cholangitis
Increased circulating IgM level, Recurrent fungal infections, Autoimmunity, Onychomycosis, Increa... ORPHA:186
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Bloom Syndrome
Male infertility, Azoospermia, Insulin resistance, Oligospermia, Acute myeloid leukemia, Acute ly... ORPHA:125
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia ORPHA:797
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Insulin insensitivity, Male infertility ORPHA:90797
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Streak ovary, Female infertility, Secondary ameno... ORPHA:572333
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Female infertility, Secondary amenorrh... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Female infertility, Secondary amenorrh... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Female infertility, Secondary amenorrh... ORPHA:99228
Monosomy X
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Female infertility, Secondary amenorrh... ORPHA:99226
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... OMIM:618213
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Primary amenorrhea, Decreased fertility, Male infertility ORPHA:90793
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Hypergonadotropic hypogonadism, Streak ovary, Primar... ORPHA:251510
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypogonadism, Male infertility, Amegakaryocytic thrombocytopenia OMIM:163950
Cystic Fibrosis
Male infertility, Hepatosplenomegaly OMIM:219700
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Azoospermia, Streak ovary, Chordee ORPHA:1772
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000

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 Usp15

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 Usp15.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)