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Gene: Ppp1r17 MGI:1333876

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Gene Summary

Name:
protein phosphatase 1, regulatory subunit 17
Synonyms:
G-substrate,  Gsbs

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 alkaline phosphatase level Ppp1r17em1(IMPC)H HOM Early adult 3.75×10-06
decreased mean corpuscular volume Ppp1r17em1(IMPC)H HOM Early adult 2.00×10-07
increased circulating potassium level Ppp1r17em1(IMPC)H HOM Early adult 5.50×10-05
decreased lymphocyte cell number Ppp1r17em1(IMPC)H HOM Early adult 6.92×10-05
increased red blood cell distribution width Ppp1r17em1(IMPC)H HOM   Early adult 5.24×10-05
increased neutrophil cell number Ppp1r17em1(IMPC)H HOM   Early adult 8.64×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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Human diseases caused by Ppp1r17 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ppp1r17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration OMIM:143890

The table below shows human diseases predicted to be associated to Ppp1r17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia OMIM:229100
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Fanconi Anemia, Complementation Group V
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia OMIM:617243
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodeficiency 95
Lymphopenia OMIM:619773
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Mirage Syndrome
Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Anemia ORPHA:97362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Immunodeficiency 44
Lymphopenia OMIM:616636
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... ORPHA:293978
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Addison Disease
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... OMIM:617099
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Liddle Syndrome
Hypokalemia ORPHA:526
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc... ORPHA:544482
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Adult-Onset Still Disease
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:829
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... ORPHA:340
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:36238
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A... OMIM:615934
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Reni Syndrome
Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration OMIM:612852
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Anemia OMIM:619377
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi... ORPHA:699
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:615688
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Ataxia-Telangiectasia
Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leukemia, T lymphocytop... OMIM:208900
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Eisenmenger Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... ORPHA:97214
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Common Variable Immunodeficiency
Splenomegaly, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia ORPHA:1572
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Mercury Poisoning
Hypokalemia ORPHA:330021
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Reynolds Syndrome
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia OMIM:613471
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi... ORPHA:534
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level ORPHA:769
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... ORPHA:466677
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration OMIM:143890

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 Ppp1r17

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 Ppp1r17.

No publications found that use IMPC mice or data for Ppp1r17.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ppp1r17tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp1r17em2(IMPC)H Indel Mice
Ppp1r17em1(IMPC)H Indel Mice

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