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Gene: Aco2 MGI:87880

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Gene Summary

Name:
aconitase 2, mitochondrial
Synonyms:
D10Wsu183e,  Aco-2,  Aco3,  Irp1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Aco2Gt(EUC0050e03)Hmgu HET Early adult 5.90×10-05
decreased IgG1 level Aco2Gt(EUC0050e03)Hmgu HET Early adult 9.54×10-07
increased circulating amylase level Aco2Gt(EUC0050e03)Hmgu HET Early adult 1.36×10-05
preweaning lethality, complete penetrance Aco2em1(IMPC)J HOM   Early adult 0.00
decreased body weight Aco2Gt(EUC0050e03)Hmgu HET Early adult 3.40×10-05
decreased IgM level Aco2Gt(EUC0050e03)Hmgu HET Early adult 2.39×10-07
decreased IgG3 level Aco2Gt(EUC0050e03)Hmgu HET Early adult 9.34×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

2 Images

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Electroretinography 3

Fundus file

6 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Aco2 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 Aco2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight OMIM:614559
Optic Atrophy 9
OMIM:616289

The table below shows human diseases predicted to be associated to Aco2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... OMIM:618944
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy OMIM:618987
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300310
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin... OMIM:300400
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE... OMIM:619824
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased lymphocyte proliferation in response to mitogen,... OMIM:615592
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... ORPHA:98813
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... OMIM:617744
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... ORPHA:86816
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circu... OMIM:620282
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgE, Decreas... OMIM:619510
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... OMIM:241600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Absent isohemagglutinin level OMIM:613501
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, Hypoalbuminem... ORPHA:90362
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail... OMIM:615758
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced... ORPHA:331206
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Complement... ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Abnormal natural killer cell ... OMIM:613101
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency 46
Failure to thrive, Decreased circulating antibody level OMIM:616740
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... OMIM:619802
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... OMIM:275350
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci... OMIM:618534
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent infections OMIM:601457
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Lambert Syndrome
Failure to thrive in infancy, Decreased circulating antibody level ORPHA:1296
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating copper concentration, Decreased circulatin... OMIM:300972
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... OMIM:618048
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Decreased circulating total IgM, Hypo... OMIM:607143
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia, Decreased circulating antibod... OMIM:300635
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Hypoalbuminemia, Weight loss OMIM:209950
Immunodeficiency 52
Failure to thrive, Decreased circulating antibody level OMIM:617514
Reticular Dysgenesis
Failure to thrive, Weight loss, Decreased circulating antibody level ORPHA:33355
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... OMIM:616222
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... OMIM:308230
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Failure to thrive, Decreased circulating IgG level, Decreased ci... OMIM:620040
Alpha-Heavy Chain Disease
Hypocalcemia, Dysgammaglobulinemia ORPHA:100025
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... ORPHA:90363
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Failure to thrive, Decreased ci... OMIM:618108
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... ORPHA:35078
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Failure to thrive OMIM:619693
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:614700
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level OMIM:618042
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ... OMIM:102700
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Failure to thrive, Decreased circulating antibody level ORPHA:397596
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased circulating total IgM, Decreased ci... OMIM:210900
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemic seizures, Decrease... OMIM:612301
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Weight loss, Decreased circulating total Ig... ORPHA:420741
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Decreased circulating IgA level OMIM:215250
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... ORPHA:221139
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase... ORPHA:449400
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Failure to thrive in infancy, Elevated circulating C-reactive pr... OMIM:617099
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea... ORPHA:169160
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Panhypogammaglobulinemia ORPHA:251009
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level DECIPHER:45
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Impaired... OMIM:210250
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating amyloid A, Elevated circulating C-reactive protein concentration, Decreased ... OMIM:619750
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D... ORPHA:572
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity, Decreased circulating total IgM, Decreased circulat... ORPHA:369837
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating antibody level ORPHA:100
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Agammaglobulinemia 1, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Panhypogammaglobulinemia, Decreased circulating antibody l... OMIM:601495
Bloom Syndrome
Small for gestational age, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:125
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De... ORPHA:29073
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hyperhomocystinemia, Decreased circulating antibody level OMIM:617780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Failure to thrive OMIM:618495
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity ORPHA:819
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level OMIM:242860
Selective Igm Deficiency
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:331235
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Reduced natural killer cell activity, Abse... OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... OMIM:600802
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Failure to thrive, Elevated circulating C-reactive protein conce... OMIM:617388
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:508533
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia OMIM:209920
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia OMIM:615207
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
X-Linked Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Elevated circulating C-reactive protein concentration, Weight lo... OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp... ORPHA:276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Griscelli Syndrome
Abnormal circulating lipid concentration, Bone marrow hypocellularity, Decreased circulating anti... ORPHA:381
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Decreased circulating antibody level OMIM:226300
Hereditary Folate Malabsorption
Failure to thrive, Decreased circulating antibody level ORPHA:90045
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Obesity ORPHA:69663
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level OMIM:615122
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Autosomal Agammaglobulinemia
Agammaglobulinemia, Failure to thrive ORPHA:33110
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Alg12-Cdg
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... ORPHA:79324
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Decreased circulating antibody level OMIM:605309
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper... ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Decreased specific anti-polysaccharide antibody level, Impaired T cell functio... OMIM:614576
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... OMIM:618183
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... ORPHA:275761
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... OMIM:606367
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Thymoma
Weight loss, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circula... ORPHA:99867
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Immunodeficiency 23
Increased circulating IgG level, Failure to thrive, Increased circulating IgE level, Increased ci... OMIM:615816
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decr... OMIM:613327
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level OMIM:616638
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Celiac Disease, Susceptibility To, 1
Weight loss, Hypocalcemia, Steatorrhea, Failure to thrive, Decreased circulating IgA level OMIM:212750
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Elevated circulating alpha-fetoprotein concen... OMIM:208900
Primary Biliary Cholangitis
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... ORPHA:186
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Decreased circulating IgG l... OMIM:212065
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... OMIM:618131
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormality of body weight, Decreased circulating compl... ORPHA:2298
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Small for gestational age, Decreased circulating antibody level OMIM:242900
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Failure to thrive ORPHA:83617
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level OMIM:615952
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:79329
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Trichohepatoenteric Syndrome 1
Small for gestational age, Decreased circulating antibody level, Increased serum iron, Hypoalbumi... OMIM:222470
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... OMIM:617062
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... ORPHA:79259
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Decreased circulating antibody ... ORPHA:293978
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Hypoalbuminemia, Bone marrow hypocellularity OMIM:617303
Lassa Fever
Increased circulating IgM level ORPHA:99824
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia, Decreased circulating antibody level ORPHA:79396
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Decreased circulating antibody level OMIM:243150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... ORPHA:79124
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia ORPHA:562639
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level OMIM:613385
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterole... ORPHA:534
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Elevated circulating creatine kinase concentr... OMIM:242840
Common Variable Immunodeficiency
Failure to thrive in infancy, Decreased circulating antibody level ORPHA:1572
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Good Syndrome
Decreased circulating antibody level ORPHA:169105
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small for gestational age OMIM:601675
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level OMIM:248500
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Hypoalbuminemia, Bone marrow hy... ORPHA:505248
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Monosomy 18Q
Failure to thrive, Slender build, Decreased circulating IgA level ORPHA:1600
Japanese Encephalitis
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Cowden Syndrome 1
Decreased circulating antibody level OMIM:158350
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Small for gestational age OMIM:606721
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia, Decreased circulating antibody level ORPHA:175
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Brucellosis
Small for gestational age, Elevated circulating C-reactive protein concentration, Weight loss, In... ORPHA:1304
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Weight loss, Increased circulating IgG4 level, Increased circula... ORPHA:79078
Dubowitz Syndrome
Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA level OMIM:223370
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Decreased circulating IgG level, Unconjugated hyperbilirubinemia OMIM:618278
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia OMIM:307200
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating C-reactive protein concentration, Decreased cir... OMIM:615688
Syndromic Diarrhea
Small for gestational age, Panhypogammaglobulinemia, Abnormality of iron homeostasis ORPHA:84064
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... ORPHA:449395
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Primary Sclerosing Cholangitis
Weight loss, Hypoalbuminemia, Polyclonal elevation of IgM ORPHA:171
Hennekam Syndrome
Hypocalcemia, Decreased circulating antibody level ORPHA:2136
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Small for gestational age, Abnormal isohemagglutinin level ORPHA:99843
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Trichothiodystrophy
Panhypogammaglobulinemia ORPHA:33364
Whim Syndrome
Decreased circulating antibody level ORPHA:51636
Autoimmune Polyendocrinopathy Type 4
Decreased circulating antibody level ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Decreased circulating antibody level ORPHA:227982
Primary Sjögren Syndrome
Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating... ORPHA:289390
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Nijmegen Breakage Syndrome
Dysgammaglobulinemia OMIM:251260
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k... ORPHA:99827
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Sponastrime Dysplasia
Small for gestational age, Decreased circulating antibody level ORPHA:93357
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight OMIM:614559
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA deficiency ORPHA:500150
Viss Syndrome
Increased circulating IgG level, Failure to thrive, Increased circulating IgE level, Decreased ci... OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Decreased body weight, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Decreased circulating antibody level ORPHA:261552
Optic Atrophy 9
OMIM:616289

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 Aco2

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 Aco2.

No publications found that use IMPC mice or data for Aco2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Aco2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aco2em1(IMPC)J Exon Deletion Mice
Aco2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aco2tm39540(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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