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Gene: Eif2ak2 MGI:1353449

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Gene Summary

Name:
eukaryotic translation initiation factor 2-alpha kinase 2
Synonyms:
dsRNA-activated kinase,  Tik,  4732414G15Rik,  Prkr,  Pkr,  2310047A08Rik,  IFN-induced and double-stranded RNA-activated kinase,  IFN- type I-induced and dsRNA-activated kinase,  eIF-2 alpha

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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
increased circulating serum albumin level Eif2ak2em1(IMPC)Mbp HOM Early adult 8.62×10-05
abnormal spleen morphology Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating creatinine level Eif2ak2em1(IMPC)Mbp HOM Early adult 6.93×10-05
small spleen Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating calcium level Eif2ak2em1(IMPC)Mbp HOM Early adult 3.78×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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Human diseases caused by Eif2ak2 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 Eif2ak2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Generalized Limb-Onset Dystonia
ORPHA:256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
OMIM:618877
Dystonia 33
OMIM:619687

The table below shows human diseases predicted to be associated to Eif2ak2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Diarrhea 13
Hepatic steatosis, Hypoalbuminemia OMIM:620357
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... OMIM:613752
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Hypermagnesemia, Hypercalcemia OMIM:145980
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia OMIM:239200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Hypermagnesemia, Hypercalcemia OMIM:145981
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ... ORPHA:97289
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Hepa... OMIM:619111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis OMIM:618805
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly OMIM:618440
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... ORPHA:275555
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... ORPHA:90362
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Portal hypertension ORPHA:79319
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Lymphangiectasis OMIM:602579
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... ORPHA:1667
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia ORPHA:96168
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp... ORPHA:47
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... OMIM:226300
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles... ORPHA:292
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... OMIM:617093
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... OMIM:613070
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis ORPHA:367
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... ORPHA:97261
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf... ORPHA:35078
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97282
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97278
Pheochromocytoma
Hypercalcemia OMIM:171300
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... OMIM:617156
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Multiple Endocrine Neoplasia, Type I
Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia OMIM:131100
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Hypochromic micr... ORPHA:97283
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... ORPHA:1655
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating long chain... OMIM:608836
Reni Syndrome
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... OMIM:600802
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... ORPHA:26793
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic... OMIM:617303
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia ORPHA:99880
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor... ORPHA:186
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... ORPHA:97280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Parathyroid Carcinoma
Pancreatitis, Pancreatic adenocarcinoma, Hypercalcemia, Hypophosphatemia ORPHA:143
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Aminoaciduria, Hypocalcemia OMIM:617913
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hypo... OMIM:619487
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... OMIM:222470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Insulinoma, Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology ORPHA:276152
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine con... ORPHA:247691
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Cervical lymphadenopathy, Hypercalcemia ORPHA:653
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Liver abscess, Hypoalbuminemia, Anemia ORPHA:67
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia, Extrahepatic cholestasis ORPHA:913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Hypocalcemia ORPHA:3426
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Hypomagnesemia, Thrombocytopeni... ORPHA:699
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Timothy Syndrome
Hypocalcemia OMIM:601005
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis OMIM:618329
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Hypoalbuminem... OMIM:235510
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... ORPHA:89842
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Decreased... ORPHA:14
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni... ORPHA:797
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... ORPHA:85443
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati... ORPHA:730
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hepatic calcification, Hypomagnesemia ORPHA:73224
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Hypocalcemia, Cholestasis ORPHA:746
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Thrombocytosis, Hepatic ste... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia ORPHA:64744
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia OMIM:212750
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Insulinoma, Hypercalcemia, Thymoma ORPHA:652
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Thrombocyto... ORPHA:505248
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrh... ORPHA:90363
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma, Lymphopenia ORPHA:2136
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper... OMIM:613658
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Leukopenia, Hypotriglyceridemia... ORPHA:2298
Williams Syndrome
Cholelithiasis, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating cre... ORPHA:904
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Biliary tract abnormality, Elevated circulating creatinine concentration, Hyperuricemia, Pancreat... OMIM:137920
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pancreatitis, Thrombocy... ORPHA:544482
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Hypocalcemia, Neutropenia, Anemia ORPHA:175
Williams-Beuren Syndrome
Hypercalcemia, Portal hypertension OMIM:194050
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Juvenile Polyposis Of Infancy
Refractory anemia, Hypoalbuminemia, Anemia ORPHA:79076
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia OMIM:300712
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Increased circulating ferritin ... OMIM:619534
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Gitelman Syndrome
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... ORPHA:358
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... OMIM:270400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c... OMIM:218330
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia, Prolonged neonatal jaundice ORPHA:821
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Cholelithiasis,... ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Digeorge Syndrome
Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemi... OMIM:188400
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Portal hypertension, Cholestasis, Hepatosplenomegaly, Hypocalcemia, Hypomagnese... OMIM:619503
Johanson-Blizzard Syndrome
Hepatomegaly, Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbili... OMIM:243800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Lymphopenia, Hypocalcemia OMIM:214800
Pmm2-Cdg
Reduced thyroxin-binding globulin, Abnormal liver parenchyma morphology, Hypoalbuminemia, Hepatic... ORPHA:79318
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
OMIM:618877
Early-Onset Generalized Limb-Onset Dystonia
ORPHA:256
Dystonia 33
OMIM:619687

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 Eif2ak2

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 Eif2ak2.

No publications found that use IMPC mice or data for Eif2ak2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eif2ak2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Eif2ak2tm284228(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eif2ak2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Eif2ak2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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