Gene Summary

Name:
symplekin
Synonyms:
4632415H16Rik,  1500016F02Rik

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
abnormal behavior Sympktm1a(EUCOMM)Wtsi HET Early adult 2.94×10-05
increased circulating chloride level Sympktm1a(EUCOMM)Wtsi HET Early adult 1.65×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (4 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 50% (2 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (2 of 4)
Gall bladder N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 75% (3 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 75% (3 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Peyer's patch N/A heterozygote 25% (1 of 4)
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 50% (2 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 90 images

Human diseases caused by Sympk 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 Sympk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Hydrops fetalis OMIM:236750
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Fetal Parvovirus Syndrome
Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hydrops fetalis ORPHA:295
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Hydrops fetalis, Anemia of inadequa... OMIM:613673
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Alpha-Thalassemia
Abnormal hemoglobin, Anemia, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia, Hy... ORPHA:846
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hb Bart'S Hydrops Fetalis
Preeclampsia, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydramnios, Hydrops... ORPHA:163596
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Anemia, Polyhydramnios ORPHA:3405
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Anemia, Polyhydramnios, Thrombocytopenia, Hydrops fetalis ORPHA:2123
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Pulmonary edema, Ly... OMIM:617300
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Premature birth, Increased red blood cell count, Spon... ORPHA:2133
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrops fetalis OMIM:616738
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Transaldolase Deficiency
Edema, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hydrops fetalis ORPHA:101028
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Indomethacin Embryofetopathy
Premature birth, Oligohydramnios, Hydrops fetalis ORPHA:1909
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... ORPHA:288
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Splenomegaly, Chronic hemolytic anemia, Abnormality of the amniotic fl... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Ascites OMIM:619433
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Nephronophthisis
Anemia ORPHA:655
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Twin-to-twin transfusion, Spontaneous a... ORPHA:1041
Congenital Enterovirus Infection
Fetal ascites, Leukocytosis, Fetal distress, Neutropenia, Pericardial effusion, Leukopenia, Prema... ORPHA:292
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Achondrogenesis, Type Ib
Edema, Breech presentation, Hydrops fetalis, Polyhydramnios OMIM:600972
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Chondrodysplasia, Blomstrand Type
Premature birth, Hydrops fetalis, Polyhydramnios OMIM:215045
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Polyhydramnios, Hepatosplenomegaly, Hydrops fetalis OMIM:232500
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amniotic fluid OMIM:608540
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Splenomegaly, Pleural effusion, Hydrops fetalis ORPHA:2414
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Fetal distress ORPHA:45452
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Sialidosis Type 2
Ascites, Splenomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Infantile Sialic Acid Storage Disease
Ascites, Premature birth, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis OMIM:269920
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Fetal Gaucher Disease
Abnormality of the spleen, Fetal akinesia sequence, Decreased fetal movement, Splenomegaly, Pancy... ORPHA:85212
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis OMIM:276822
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Congenital Atransferrinemia
Anemia ORPHA:1195
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Palpebral edema, Pleural effusion, Hydrops fetalis, Predominantly lower limb lymphedema ORPHA:69735
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Klippel-Trénaunay Syndrome
Microcytic anemia, Edema, Ascites, Hydrops fetalis ORPHA:90308
Neuraminidase Deficiency
Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Facial edema, Splenomegaly, Hydrops fetalis OMIM:256550
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Alg8-Cdg
Ascites, Premature birth, Edema, Anemia, Oligohydramnios, Thrombocytopenia, Hydrops fetalis ORPHA:79325
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Focal Segmental Glomerulosclerosis 1
Edema, Anemia OMIM:603278
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618839
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis OMIM:619003
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Achondrogenesis, Type Ii
Edema, Hydrops fetalis, Polyhydramnios OMIM:200610
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema OMIM:607823
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Polyhydramnios, Single umbilical artery, Pleural effusion, Hydrops fetalis OMIM:616897
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis OMIM:617022
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Ascites, Premature birth, Decreased fetal movement, Anemia, Polyhydram... OMIM:608013
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Mucopolysaccharidosis Type 7
Ascites, Splenomegaly, Hydrops fetalis, Lymphedema ORPHA:584
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Galactosialidosis
Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Hydatidiform Mole
Anemia, Spontaneous abortion, Preeclampsia ORPHA:99927
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Trisomy 13
Hydrops fetalis ORPHA:3378
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Ascites, Fetal akinesia sequence, Polyhydramnios, Hepatosplenomegaly ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Farber Disease
Ascites, Anemia, Hepatosplenomegaly, Thrombocytopenia, Joint swelling, Hydrops fetalis ORPHA:333
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Spontaneous abortion, Hepatospl... ORPHA:71275
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Facial edema, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Cardiac Valvular Defect, Developmental
Edema, Hydrops fetalis OMIM:212093
Mitochondrial Trifunctional Protein Deficiency
Abnormality of the amniotic fluid, Hydrops fetalis, Prenatal maternal abnormality OMIM:609015
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Hydrops fetalis, Splenomegaly OMIM:230500
Achondrogenesis, Type Ia
Hydrops fetalis, Polyhydramnios OMIM:200600
Gaucher Disease Type 3
Pericardial effusion, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Hydrops fetalis ORPHA:77261
Gm1 Gangliosidosis
Premature birth, Hepatosplenomegaly, Hydrops fetalis, Splenomegaly ORPHA:354
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Single umbilical artery, Spontaneous abortion, Hydrops fetalis ORPHA:1865
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... OMIM:235700
Blackfan-Diamond Anemia
Thrombocytosis, Nonimmune hydrops fetalis, Neutropenia, Elevated red cell adenosine deaminase lev... ORPHA:124
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Mosaic Trisomy 9
Asplenia, Polyhydramnios, Single umbilical artery, Oligohydramnios, Hydrops fetalis ORPHA:99776
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Lymphoproliferative Syndrome 1
Pericardial effusion, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased pr... OMIM:613011
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Hepatosplenomegaly, Extramedullary hematopoiesis, Pleu... OMIM:215140
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Leukopenia, Erythroid hyperplasia, Edema, Splenomegaly, Anisocytosis, ... ORPHA:79277
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Splenomegaly OMIM:253220
Fibrochondrogenesis 1
Hydrops fetalis OMIM:228520
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Nonimmune hydrops fetalis, Pericardial effusion, Abnormality of the amniotic fluid OMIM:212065
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Megaloblastic anemia, Thrombocytopenia, Dehydration, Hydrops fetalis ORPHA:79282
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Pearson Syndrome
Neutropenia, Corneal stromal edema, Anemia, Hypoplastic spleen, Splenomegaly, Reticulocytosis, Pa... ORPHA:699
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis ORPHA:79329
Hennekam Syndrome
Lymphedema, Pericardial effusion, Ascites, Splenomegaly, Lymphopenia, Hydrops fetalis, Chylothorax ORPHA:2136
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Erythroid hyperplasia, Edema, Splenomegaly, Abnormality of the amnioti... ORPHA:95159
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Alg9-Cdg
Pericardial effusion, Decreased fetal movement, Thickened nuchal skin fold, Oligohydramnios, Hydr... ORPHA:79328
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Anisopoikilocytosis, Anemia, Schistocytosis OMIM:616457
Gaucher Disease
Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Hydrops fetalis ORPHA:355
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Chylothorax, Lymphedema ORPHA:137667
Cranioectodermal Dysplasia 2
Polysplenia, Splenomegaly, Hydrops fetalis, Polyhydramnios OMIM:613610
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hydrops fetalis, Polyhydramnios OMIM:300868
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis ORPHA:646
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemia ORPHA:329971
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis OMIM:263520
Yunis-Varon Syndrome
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:3472
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Asplenia, Polyhydramnios, Thickened nuchal skin fold, Single umbilical... OMIM:265380
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Fetal distress, Pericardial effusion, Ascites, Edema, Polyhydramn... ORPHA:51608
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Premature birth, Hydrops fetalis, Polyhydramnios OMIM:216340

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 Sympk

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 Sympk.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SYMPK Is Required for Meiosis and Involved in Alternative Splicing in Male Germ Cells. Frontiers in cell and developmental biology (August 2021) Sympktm1a(EUCOMM)Wtsi PMC8380814
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sympktm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sympktm1a(EUCOMM)Wtsi