Gene Summary

Name:
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein
Synonyms:
NIP45,  D7Ertd304e

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 locomotor behavior Nfatc2ipem1(IMPC)Ics HOM Early adult 2.52×10-05
increased eosinophil cell number Nfatc2ipem1(IMPC)Ics HOM   Early adult 4.49×10-05
increased circulating calcium level Nfatc2ipem1(IMPC)Ics HOM   Early adult 7.86×10-06

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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 Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Nfatc2ip 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 Nfatc2ip by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 88
Eosinophilia OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Recurrent ur... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:613502
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibo... OMIM:615285
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia OMIM:212050
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia, Difficulty walking OMIM:253600
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... OMIM:616740
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis, Decreased proportion of CD4-positive helpe... OMIM:312863
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... ORPHA:277
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections, Abnor... OMIM:308220
Halothane Hepatitis
Eosinophilia OMIM:234350
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Eosinophilopenia
Decreased eosinophil count OMIM:131430
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Kimura Disease
Eosinophilia ORPHA:482
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natur... OMIM:308240
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Decreased prop... OMIM:618204
Wells Syndrome
Eosinophilia ORPHA:901
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Unsteady gait OMIM:618092
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Absent n... OMIM:600802
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Wiskott-Aldrich Syndrome 2
Recurrent infections, Reduced natural killer cell activity, Defective T cell proliferation, Decre... OMIM:614493
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Severe infection, S... ORPHA:158048
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Recurrent respiratory infections, Decreased circula... ORPHA:2643
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Recurrent respiratory infections, Decreased circula... OMIM:251190
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:619752
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Autoimmune thrombocytop... OMIM:613179
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Recurrent urinary tract infection... ORPHA:331235
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Thymic Aplasia
Severe infection, Invasive fungal infection, Recurrent urinary tract infections, Opportunistic in... ORPHA:83471
Lichtenstein Syndrome
Neutropenia, Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level OMIM:246550
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Anemia, Recurrent ur... OMIM:300755
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Increased... ORPHA:540
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Anemia ORPHA:39041
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Macrocytic anemia ORPHA:199299
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Mastocytosis
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Acute leukemia ORPHA:98292
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hypercalcemia OMIM:618440
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Elevated ... ORPHA:542323
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia ORPHA:251004
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Immunodeficiency 23
Eosinophilia, Ataxia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Recurrent upper respiratory tract infections, Increased circulat... OMIM:600903
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia ORPHA:476126
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Netherton Syndrome
Hypereosinophilia OMIM:256500
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis ... OMIM:614700
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Peritoneal abscess, Splenic cyst, Abscess ORPHA:400
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity,... OMIM:242700
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Recurrent infections, Abnorma... ORPHA:3243
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Gait disturbance ORPHA:183
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Fibrous Dysplasia Of Bone
Antalgic gait, Hypophosphatemia, Difficulty walking, Hypercalcemia ORPHA:249
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Albers-Sch├Ânberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Alveolar Echinococcosis
Eosinophilia, Cutaneous abscess, Ataxia, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Recurrent viral infections, Recurre... OMIM:242840
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Recurrent upper respiratory tract infections, H... OMIM:618131
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Inability to walk, Decreased proportion of CD4-positive hel... ORPHA:508533
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Bone marrow hypocellularity, Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Pheochromocytoma
Hypercalcemia OMIM:171300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Recurrent infections, Splenomegaly, Impaired T cell function, Elevated circulating ... OMIM:614576
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Timothy Syndrome
Hypocalcemia OMIM:601005
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased mean corpuscular... OMIM:618849
Scleroderma
Elevated circulating creatine kinase concentration, Hypereosinophilia ORPHA:801
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Hyponatremia, Severe infection, ... ORPHA:544482
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocyt... ORPHA:88
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Incontinentia Pigmenti
Eosinophilia, Gait disturbance ORPHA:464
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures ORPHA:289157
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Anemia, Thrombocytopenia OMIM:274000
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Hypophosphatemic Rickets
Periapical tooth abscess, Hypercalcemia, Hypophosphatemia, Tooth abscess ORPHA:437
Ppoma
Hypercalcemia ORPHA:97278
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Hypocalcemia, Ataxia, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Hyperlipidemia, Bone marrow hypocellularity, Abnormal proportion of naive C... ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormality of cytokine secretion, A... ORPHA:567983
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Grfoma
Hypercalcemia ORPHA:97261
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tip-toe gait ORPHA:746
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Coccidioidomycosis
Eosinophilia, Granuloma, Abscess, Abnormality of the spleen ORPHA:228123
Sarcoidosis
Eosinophilia, Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Hemolytic anemia, Thromb... ORPHA:797
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Bone marrow hypocellularity, Hypocalcemia, Splenom... ORPHA:699
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Eosinophilia, Elevated circulating C-reactive protein co... ORPHA:449395
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Williams Syndrome
Dysmetria, Hypercalcemia, Abnormal circulating lipid concentration, Ataxia, Elevated circulating ... ORPHA:904
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79443
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Recurrent respiratory infections, Impaired T cell function ORPHA:30
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Hypocalcemia, Elevated circulating creatin... ORPHA:2785
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Hypocalcemia ORPHA:175
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Williams-Beuren Syndrome
Gait imbalance, Hypercalcemia OMIM:194050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:163979
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypermagnesemia, Hypomagnesemia ORPHA:358
Sotos Syndrome
Hypercalcemia, Acute lymphoblastic leukemia ORPHA:821
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Viss Syndrome
Hypereosinophilia OMIM:619472
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia, Splenomegaly ORPHA:567
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Splenomegaly, Abnormality of T cell physiology OMIM:181000
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hypocalcemia, Hemolytic anemia, Tip-toe gait, Hypomagnesemia, Falls, Broad-ba... OMIM:619503
Digeorge Syndrome
Hypocalcemia, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:99889
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Nfatc2ip

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 Nfatc2ip.

No publications found that use IMPC mice or data for Nfatc2ip.

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MGI Allele Allele Type Produced
Nfatc2ipem1(IMPC)Ics Deletion Mice
Nfatc2iptm402162(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nfatc2iptm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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