Gene Summary

Name:
dual specificity phosphatase 4
Synonyms:
MKP2,  E130306H24Rik,  2700078F24Rik

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
decreased circulating glucose level Dusp4tm1a(EUCOMM)Wtsi HOM Early adult 1.62×10-06
increased circulating sodium level Dusp4tm1a(EUCOMM)Wtsi HOM Early adult 5.64×10-06
decreased circulating potassium level Dusp4tm1a(EUCOMM)Wtsi HOM Early adult 3.17×10-08

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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

View all 88 images

Human diseases caused by Dusp4 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 Dusp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 86
Decreased circulating IgG level, BCGitis, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Recurrent otitis media, Recurrent infections, Increased circulating ... OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Recurrent otitis media, Inc... OMIM:618944
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Recurrent lower r... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:606843
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Increased circulating antibody level, Recurrent otitis media,... OMIM:618495
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:618987
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased... OMIM:616452
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Immunodeficiency 64
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... OMIM:618534
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... OMIM:300988
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Recurrent fungal infections, Decreased circu... OMIM:300400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Recurrent ear infections, Recurrent sinopulmonary... OMIM:615513
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Congenital Isolated Acth Deficiency
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Decreased c... OMIM:617765
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte proliferation i... ORPHA:169154
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections OMIM:615767
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:607594
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:619632
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of ... ORPHA:178320
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased level of L-glu... ORPHA:3008
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell act... OMIM:619281
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... OMIM:615577
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis media, Increased ci... ORPHA:277
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia ORPHA:446
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Recurrent infections OMIM:618048
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Recurrent bacterial s... ORPHA:217390
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections OMIM:616098
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Decreased circulating IgG level, Decreased circulating antibody level, R... OMIM:308240
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM ORPHA:2643
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Liddle Syndrome
Hypokalemia ORPHA:526
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Increased circulating IgG level ORPHA:206594
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:251190
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Recurrent infections, Dec... OMIM:614470
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Decreased circulating Ig... OMIM:308230
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Recurrent otitis media, Recu... OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... OMIM:616100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Diabetes mellitus, Hyperuricemia OMIM:613845
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Kimura Disease
Increased circulating IgE level ORPHA:482
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Immunodeficiency 23
Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi... OMIM:615816
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... OMIM:618394
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... ORPHA:331206
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619510
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 92
BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decreased circulating IgG level,... OMIM:619652
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Partial absence of specific antibody response to Haemo... OMIM:618986
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgE level, Increased circula... OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent opportunistic infections, Lack of T ... ORPHA:35078
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cholera
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Recurrent respiratory infections, Recurrent infections, Increase... OMIM:615934
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:227810
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections OMIM:246550
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Caffey Disease
Increased circulating antibody level ORPHA:1310
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... OMIM:231100
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... OMIM:615160
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Increased circulating IgA level, Recurrent fungal infecti... ORPHA:443811
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Recurrent infections, Decreased serum complement C3 ORPHA:329918
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... ORPHA:100924
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemic seizures, Ketotic hypoglycemia ORPHA:361
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Hartsfield Syndrome
Hypernatremia OMIM:615465
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve... OMIM:618213
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Recurrent infections OMIM:256500
Cystinosis
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia ORPHA:213
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Sweet Syndrome
Increased circulating interleukin 6, Recurrent infections, Abnormality of tumor necrosis factor s... ORPHA:3243
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Snakebite Envenomation
Hyponatremia ORPHA:449285
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia ORPHA:90791
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... OMIM:606367
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Complement deficiency, Paraproteinemia, Increased circul... ORPHA:91139
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent infections, Pers... OMIM:613011
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... ORPHA:1493
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... ORPHA:95409
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Alg8-Cdg
Hyponatremia ORPHA:79325
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections OMIM:608809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Meningitis, Increased circu... ORPHA:297
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Decreased specific antibody response to vaccination, Decreased circulating IgA level, Dec... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... ORPHA:3337
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... ORPHA:769
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... ORPHA:449432
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Hypokalemia OMIM:219090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Infant Botulism
Hyponatremia ORPHA:178478
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating IgG level, Rec... OMIM:242840
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Hyperbilirubin... ORPHA:88673
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Decreased circulating IgG level, Bone marrow hypocellularity, In... ORPHA:3261
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Netherton Syndrome
Increased circulating IgE level, Recurrent respiratory infections, Decreased circulating antibody... ORPHA:634
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... ORPHA:85138
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Tularemia
Brain abscess, Meningitis, Increased circulating antibody level ORPHA:3392
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia ORPHA:723
Rift Valley Fever
Infectious encephalitis, Severe viral infection, Increased circulating IgM level, Increased circu... ORPHA:319251
Legionnaires Disease
Hyponatremia ORPHA:549
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
Prolidase Deficiency
Increased circulating antibody level, Recurrent infections, Recurrent pneumonia OMIM:170100
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... ORPHA:168558
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... ORPHA:289548
Alg12-Cdg
Recurrent hypoglycemia, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Adrenocortical Carcinoma
Diabetes mellitus, Hypokalemia ORPHA:1501
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Recurrent otitis media, Inc... OMIM:256040
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Leishmaniasis
Increased circulating antibody level ORPHA:507
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Mercury Poisoning
Hypokalemia ORPHA:330021
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:600903
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Glycosuria, Abnormal blood ion concentration ORPHA:411629
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Adenohypophysitis
Hyponatremia ORPHA:95512
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia, Low plasma citrulline OMIM:261680
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618838
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Lassa Fever
Sepsis, Increased circulating IgM level ORPHA:99824
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia ORPHA:786
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... ORPHA:449395
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Wiskott-Aldrich Syndrome
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... OMIM:301000
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Panhypophysitis
Hyponatremia ORPHA:95513
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Holoprosencephaly
Hyponatremia, Hypoglycemia, Diabetes mellitus ORPHA:2162
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Ataxia-Telangiectasia
Recurrent bronchitis, Decreased circulating IgA level, Defective B cell differentiation, Decrease... OMIM:208900
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Cryoglobulinemia, I... ORPHA:48435
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Decreased serum complement factor B, Increased circulating IgG l... ORPHA:2298
Familial Dysautonomia
Hyponatremia ORPHA:1764
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia OMIM:619377
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Recurrent respiratory infections, Recurrent infections ORPHA:2314
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Leprechaunism
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Recurrent infantile hypoglycemia, Increase... ORPHA:508
Bloom Syndrome
Severe toxoplasmosis, Severe varicella zoster infection, Recurrent herpes, Decreased circulating ... ORPHA:125
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... OMIM:300972
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level ORPHA:319218
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Diabetic ketoacido... ORPHA:358
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Japanese Encephalitis
Hyponatremia ORPHA:79139
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level, Unusual CNS infection, Invasive... ORPHA:228123
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:275761
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Severe infection OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Molluscum contag... OMIM:260920
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Cystinosis, Nephropathic
Hyponatremia, Glycosuria, Diabetes mellitus, Decreased plasma carnitine, Hypophosphatemic rickets OMIM:219800
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Zika Virus Disease
Meningitis, Infectious encephalitis, Increased circulating IgM level ORPHA:448237
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infections, Rec... ORPHA:420741
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... ORPHA:2442
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Nelson Syndrome
Type II diabetes mellitus, Hypokalemia ORPHA:199244
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypoglycemia, Hyperammonemia OMIM:617049
Cystic Echinococcosis
Unusual infection, Increased circulating antibody level, Invasive parasitic infection ORPHA:400
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Recurrent infections OMIM:601675
Vipoma
Hypercalcemia, Diabetes mellitus, Hypokalemia ORPHA:97282
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Diabetes mellitus, Hy... ORPHA:699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia, Neonatal hypoglycemia ORPHA:90794
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent upper and lower ... ORPHA:79329
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Primary Biliary Cholangitis
Increased circulating IgA level, Recurrent fungal infections, Increased circulating IgM level, On... ORPHA:186
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia ORPHA:293987
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 level ORPHA:79078
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Increased ... ORPHA:466677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Brucellosis
Infectious encephalitis, Increased circulating IgM level, Increased circulating IgG level ORPHA:1304
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Glycosuria, Hyperuricosuria ORPHA:47159
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM l... ORPHA:505248
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:223370
Q Fever
Infectious encephalitis, Cryoglobulinemia, Unusual infection, Meningitis, Increased circulating a... ORPHA:781
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased circulating antibody l... ORPHA:3132
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia OMIM:619573
Cysticercosis
Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Yellow Fever
Opportunistic infection, Increased circulating interleukin 6, Increased circulating IgM level ORPHA:99829
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased serum complement C4, Decreased circulating antibody level, Complement... ORPHA:289390
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased circulating antibody level, Complement deficiency, Incr... ORPHA:470
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Gaucher Disease
Increased circulating antibody level ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections ORPHA:500150
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

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 Dusp4

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 Dusp4.

There are 2 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)