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
increased circulating calcium level Nfatc2ipem1(IMPC)Ics HOM   Early adult 4.73×10-06
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 creatinine level Nfatc2ipem1(IMPC)Ics HOM Early adult 9.12×10-05

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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

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections, Neutropenia OMIM:615214
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Decreased specific anti-polysa... OMIM:300853
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacterial... OMIM:613502
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Difficulty walking, Eosinophilia OMIM:253600
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Azotemia, Familial
Azotemia OMIM:109160
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent otitis med... OMIM:607594
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased circulating ... OMIM:312863
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:169154
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Monocytopenia, Recurrent fungal infections, Helicob... ORPHA:2688
Halothane Hepatitis
Eosinophilia OMIM:234350
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Neutropenia, ... OMIM:193670
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, A... OMIM:601495
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:619220
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Kimura Disease
Eosinophilia ORPHA:482
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Recurrent infections, Decreased c... OMIM:616452
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Cinca Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hepatosplenomegaly, ... OMIM:607115
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia OMIM:618092
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Wells Syndrome
Eosinophilia ORPHA:901
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent en... ORPHA:331206
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgM level, Increa... OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic... ORPHA:199299
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Increased circulating guanosine concen... OMIM:613179
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Neutropenia OMIM:600351
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Lichtenstein Syndrome
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Neutropenia OMIM:246550
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Increased serum interferon-gamma ... ORPHA:540
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive protein concentra... OMIM:617388
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Mastocytosis
Chronic leukemia, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia ORPHA:89937
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Spl... OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased serum interferon-gamma level, Abnormality of interleukin secretion, Elevated circulatin... ORPHA:542323
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Abscess, Eosinophilia OMIM:615816
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Normocytic anemia, Hypercalcemia,... ORPHA:95409
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Netherton Syndrome
Hypereosinophilia OMIM:256500
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormal T c... OMIM:242700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Addison Disease
Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperuricemia, Increased circulating reni... ORPHA:85138
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Antalgic gait, Difficulty walking ORPHA:249
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... ORPHA:31824
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia ORPHA:47
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Histidinemia
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... OMIM:242840
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Pheochromocytoma
Hypercalcemia OMIM:171300
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:93160
Immunodeficiency 58
Cutaneous abscess, Recurrent upper respiratory tract infections, Helicobacter pylori infection, D... OMIM:618131
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Timothy Syndrome
Hypocalcemia OMIM:601005
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Scleroderma
Elevated circulating creatine kinase concentration, Hypereosinophilia ORPHA:801
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Ataxia, Anemia, Liver abscess, Eosinophilia ORPHA:284
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Difficulty walking, Hypocalcemic seizures ORPHA:289157
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:352540
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Thrombocytopenia, Pancytopenia, Impaired T... OMIM:614576
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia, Bon... ORPHA:88
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449427
Incontinentia Pigmenti
Gait disturbance, Attention deficit hyperactivity disorder, Eosinophilia ORPHA:464
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Severe viral infection, Leukocytosis, Hyponatremia, Increased cir... ORPHA:544482
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Whim Syndrome
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Lymphopenia, ... ORPHA:51636
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Toe walking ORPHA:746
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Hypophosphatemic Rickets
Periapical tooth abscess, Tooth abscess, Hypercalcemia, Hypophosphatemia ORPHA:437
Ppoma
Hypercalcemia ORPHA:97278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Normocytic anemia ORPHA:247691
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Writer's cramp ORPHA:428
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Recurrent candida infections OMIM:201100
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Ataxia, Macrocytic anemia OMIM:212750
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia, Anemia OMIM:127000
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Grfoma
Hypercalcemia ORPHA:97261
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemi... ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Hyper... ORPHA:567983
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Coccidioidomycosis
Abscess, Abnormality of the spleen, Granuloma, Eosinophilia ORPHA:228123
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Ataxia, Pancytopenia, Thrombocytope... ORPHA:699
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Hypercalcemia, Anemia, Leukopenia, Eo... ORPHA:797
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Multiple Endocrine Neoplasia Type 1
Lethargy, Hypercalcemia ORPHA:652
Williams Syndrome
Gait disturbance, Abnormal circulating lipid concentration, Ataxia, Hypercalcemia, Dysmetria, Ele... ORPHA:904
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemi... ORPHA:79443
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449563
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Ataxia ORPHA:31826
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Thrombocytopenia, Elevated circulating creatine kinase concentrat... ORPHA:466650
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Hypoalbuminemia, Anemia OMIM:613658
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections, Anemia, Splenomegaly ORPHA:30
Williams-Beuren Syndrome
Hypercalcemia, Gait imbalance, Attention deficit hyperactivity disorder OMIM:194050
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:821
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hyperactivity ORPHA:280651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Gitelman Syndrome
Iron deficiency anemia, Hypocalcemia, Hypermagnesemia, Hypokalemia, Hypomagnesemia ORPHA:358
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Anemia, Splenomegaly ORPHA:667
22Q11.2 Deletion Syndrome
Hypocalcemia, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Attention deficit hyperac... ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Anemia, Hypocalcemic tetany ORPHA:93325
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Elevated circulating creatinine concentration, Aminoaciduria, Normocytic anem... ORPHA:91500
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly OMIM:181000
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
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 Exdel Mice
Nfatc2iptm402162(L1L2_Bact_P) Targeting vectors

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