Gene Summary

Name:
atlastin GTPase 2
Synonyms:
Aip-2,  2010110I21Rik,  Arl6ip2

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
decreased lean body mass Atl2tm2b(EUCOMM)Hmgu HET Early adult 4.84×10-05
embryonic lethality prior to organogenesis Atl2tm2b(EUCOMM)Hmgu HOM   E9.5 0.00
preweaning lethality, complete penetrance Atl2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased neutrophil cell number Atl2tm2b(EUCOMM)Hmgu HET Early adult 2.42×10-10
increased lymphocyte cell number Atl2tm2b(EUCOMM)Hmgu HET Early adult 6.92×10-08
increased hemoglobin content Atl2tm2b(EUCOMM)Hmgu HET Early adult 4.13×10-06
decreased mean corpuscular volume Atl2tm2b(EUCOMM)Hmgu HET Early adult 4.44×10-05
increased total body fat amount Atl2tm2b(EUCOMM)Hmgu HET Early adult 2.65×10-07
decreased red blood cell distribution width Atl2tm2b(EUCOMM)Hmgu HET Early adult 4.27×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote 100% (1 of 1)
Brown adipose tissue  Wholemount images heterozygote 100% (1 of 1)
Cartilage tissue  Wholemount images heterozygote 100% (1 of 1)
Lower urinary tract  Wholemount images heterozygote 100% (1 of 1)
Lung  Wholemount images heterozygote 100% (1 of 1)
Prostate gland  Wholemount images heterozygote 100% (1 of 1)
Skin  Wholemount images heterozygote 100% (1 of 1)
Testis  Wholemount images heterozygote 100% (1 of 1)
Vascular system  Wholemount images heterozygote 100% (1 of 1)
White adipose tissue  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 100% (1 of 1)
Aorta N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brainstem N/A heterozygote 100% (1 of 1)
Cerebellum N/A heterozygote 100% (1 of 1)
Cerebral cortex N/A heterozygote 100% (1 of 1)
Esophagus N/A heterozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Gall bladder N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hippocampus N/A heterozygote 100% (1 of 1)
Hypothalamus N/A heterozygote 100% (1 of 1)
Kidney N/A heterozygote 100% (1 of 1)
Large intestine N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 100% (1 of 1)
Lymph node N/A heterozygote 100% (1 of 1)
Mammary gland N/A heterozygote Not available
Olfactory lobe N/A heterozygote 100% (1 of 1)
Oral epithelium N/A heterozygote 100% (1 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 100% (1 of 1)
Parathyroid gland N/A heterozygote 100% (1 of 1)
Peripheral nervous system N/A heterozygote 100% (1 of 1)
Peyer's patch N/A heterozygote 100% (1 of 1)
Pituitary gland N/A heterozygote 100% (1 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Spleen N/A heterozygote 100% (1 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Striatum N/A heterozygote 100% (1 of 1)
Thymus N/A heterozygote 100% (1 of 1)
Thyroid gland N/A heterozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Uterus N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
uterus 0.37% (2 of 535)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.74% (6 of 344)
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
midbrain 0.28% (1 of 354)
oral cavity 0.0%
skin 0.29% (1 of 348)
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Atl2 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 Atl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... OMIM:615285
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop... OMIM:617475
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Whim Syndrome 1
Neutropenia OMIM:193670
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Umbilical hernia, Neutropenia, Anemia, Thrombocytop... OMIM:614520
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia OMIM:251190
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive, Flexion contracture, Camptodactyly OMIM:604273
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia OMIM:275350
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... OMIM:304790
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
X-Linked Agammaglobulinemia
Failure to thrive, Cellulitis, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Recurrent cuta... ORPHA:47
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Neutropenia, Thrombocytopenia, Normochromic anemia OMIM:614857
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytope... ORPHA:572
Felty Syndrome
Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Anemia, Throm... ORPHA:47612
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Anemia ORPHA:514
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Retinal Venous Beading
Neutropenia OMIM:180080
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Macrocytic anemia, Pancytopenia ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Cyclic Neutropenia
Lymphopenia, Cellulitis, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, D... ORPHA:2686
Propionic Acidemia
Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Barth Syndrome
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia OMIM:302060
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Pgm3-Cdg
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... ORPHA:443811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytope... ORPHA:508542
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... OMIM:260400
Autosomal Agammaglobulinemia
Failure to thrive, Cellulitis, Neutropenia ORPHA:33110
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:277380
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Monocyto... OMIM:612541
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Cellulitis OMIM:266265
Fanconi Anemia, Complementation Group E
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:600901
Cohen Syndrome
Leukopenia, Small for gestational age, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Schimke Immunoosseous Dysplasia
Lymphopenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abno... OMIM:242900
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Necrotizing Enterocolitis
Small for gestational age, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Weight loss, Anemia, Liver abscess ORPHA:54251
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, N... ORPHA:811
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Neutropenia OMIM:616395
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Fanconi Anemia, Complementation Group A
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227650
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Wolcott-Rallison Syndrome
Decreased body weight, Neutropenia, Lymphocytosis, Iron deficiency anemia ORPHA:1667
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Lymphopenia, Small for gestational age, Abnormal proportion of naive CD4 T cel... ORPHA:1830
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Lipodystrophy, Increased proportion of CD4-positive T cells, Failure ... OMIM:617099
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Fanconi Anemia, Complementation Group C
Flexion contracture, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anem... OMIM:227645
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Neutropenia ORPHA:79284
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ... ORPHA:3226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased propor... OMIM:614700
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Small for gestational a... OMIM:557000
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture ORPHA:98791
Sepsis In Premature Infants
Decreased body weight, Leukocytosis, Splenomegaly, Small for gestational age, Neutropenia, Anemia... ORPHA:90051
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Shwachman-Diamond Syndrome 2
Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... OMIM:608233
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Splenomegaly, Hemolytic anemia, Neutropenia, Thrombocytopenia OMIM:308230
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia ORPHA:86843
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... ORPHA:911
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Neutropenia OMIM:209920
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia OMIM:619769
Fusariosis
Lymphopenia, Cellulitis, Abnormality of the spleen, Brain abscess, Fasciitis, Neutropenia, Granul... ORPHA:228119
Fanconi Anemia, Complementation Group I
Decreased body weight, Neutropenia OMIM:609053
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Flexion contracture, Neutropenia OMIM:616271
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Flexion contracture, Neutropenia OMIM:618005
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Small for gestational age, Neutropenia OMIM:615471
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Failure to thrive, Neutropenia OMIM:277400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Cachexia, Autoimmune thromboc... ORPHA:37042
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Decreased body weight, Acute myeloid leukemia, Neutropenia OMIM:601347
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly OMIM:604173
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... OMIM:615952
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Scarring alopecia of scalp, Increased connective tissue, ... ORPHA:79277
Whim Syndrome
Cellulitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Fanconi Anemia, Complementation Group D2
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... OMIM:227646
Trichothiodystrophy
Multiple joint contractures, Increased mean corpuscular hemoglobin concentration, Enamel hypoplas... ORPHA:33364
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Leigh Syndrome
Multiple joint contractures, Anemia, Failure to thrive, Neutropenia ORPHA:506
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Leukocytosis ORPHA:1302
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Weight loss, Reduced nat... OMIM:301074
Rothmund-Thomson Syndrome
Small for gestational age, Aplastic anemia, Neutropenia, Anemia, Leukemia, Abnormal dental enamel... ORPHA:2909
Toxic Epidermal Necrolysis
Weight loss, Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Diamond-Blackfan Anemia 1
Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ... OMIM:105650
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Aplastic anemia, Neutropenia, Anemia, Leukemia, Abnormal dental enamel... ORPHA:221008
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Leukopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Cohen Syndrome
Obesity, Failure to thrive in infancy, Neutropenia ORPHA:193
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Aplastic anemia, Neutropenia, Anemia, Leukemia, Abnormal dental enamel... ORPHA:221016
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Failure to thrive, Neutropenia ORPHA:79282
Hermansky-Pudlak Syndrome
Weight loss, Abnormal dental enamel morphology, Neutropenia ORPHA:79430
Cartilage-Hair Hypoplasia
Failure to thrive, Anemia, Neutropenia ORPHA:175
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Spleno... ORPHA:525731
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Camptodactyly, Pancytop... ORPHA:228426
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Pearson Syndrome
Neutropenia, Splenomegaly, Small for gestational age, Reticulocytosis, Hypoplastic spleen, Pancyt... ORPHA:699
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Weight loss, Lymphocytosis ORPHA:139402
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Cellulitis, Decreased proportion of transit... ORPHA:331235
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age ORPHA:330015
Glycogen Storage Disease Ib
Neutropenia, Splenomegaly OMIM:232220
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Camptodactyly, Large for gestational age, Chronic neutropenia, Transient neutrop... ORPHA:500095
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Failure to thrive in infancy, Splenomegaly OMIM:612852
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Anemia, Chronic neutropenia, Abnormal myeloid leukocyte morphology ORPHA:79259
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Neutrophilia, Leukocytosis, Small for gestational age, Microcytic anemia, Umbi... ORPHA:99843
Zygomycosis
Splenic abscess, Cellulitis, Brain abscess, Fasciitis, Neutropenia ORPHA:73263
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Aspartylglucosaminuria
Hernia, Vacuolated lymphocytes, Neutropenia OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Anemia, Neutropenia ORPHA:95455
Hyper-Igd Syndrome
Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly OMIM:260920
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinop... ORPHA:3260
Sponastrime Dysplasia
Small for gestational age, Neutropenia ORPHA:93357
Familial Mediterranean Fever
Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Eisenmenger Syndrome
Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic anemia, Iron deficiency ... ORPHA:97214
Liver Disease, Severe Congenital
Failure to thrive, Lymphocytosis, Inguinal hernia, Splenomegaly, Leukopenia, Umbilical hernia, An... OMIM:619991
Yellow Fever
Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829

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 Atl2

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 Atl2.

No publications found that use IMPC mice or data for Atl2.

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MGI Allele Allele Type Produced
Atl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atl2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Atl2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atl2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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