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Gene: Pml MGI:104662

Gene Summary

Name:

promyelocytic leukemia

Synonyms:

Trim19, 1200009E24Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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 alkaline phosphatase level		Pml^{Gt(EUCJ0019c12)Hmgu}	HOM		Early adult	2.44×10^-05

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.

Phenotype associated images not available

Human diseases caused by Pml 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.

Human diseases associated with Pml (1 diseases)
Human diseases predicted to be associated with Pml (330 diseases)

The table below shows human diseases associated to Pml by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Acute Promyelocytic Leukemia		Pancytopenia, Chronic infection, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520

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

Disease	Matching phenotypes	Source
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe...	OMIM:619437
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Recurrent bacter...	OMIM:202700
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia	OMIM:610738
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen...	OMIM:613501
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal ...	OMIM:614172
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent viral infections, Recurrent ...	OMIM:614868
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia	OMIM:616873
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae, Neutropenia	OMIM:193670
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent abscess formation, Verrucae, Recurrent lowe...	OMIM:613860
Cernunnos-Xlf Deficiency	Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy...	ORPHA:169079
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Lymphoproliferative disorder, A...	OMIM:614470
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:613502
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu...	ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Myelodysplasia, Autoimmune thrombocytopenia, Recurrent upper respira...	OMIM:608184
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod...	ORPHA:486
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Recurrent herpes, Decreased proportion of naive T cells, Lymphoprolifer...	ORPHA:276
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infectio...	OMIM:616005
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia...	OMIM:243700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E...	ORPHA:911
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro...	ORPHA:75564
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N...	OMIM:615285
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni...	OMIM:612692
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au...	ORPHA:572
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro...	OMIM:615214
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Immunodeficiency, Common Variable, 1	Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease...	OMIM:607594
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Sepsi...	OMIM:617475
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Myelodysplasia, Anemia of in...	ORPHA:98826
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o...	OMIM:616740
Immunodeficiency, Common Variable, 2	Splenomegaly, Lymphoma, Recurrent pneumonia, Recurrent bacterial infections, Neoplasm, Recurrent ...	OMIM:240500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato...	OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Neutropenia	OMIM:606843
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Reticular Dysgenesis	Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca...	OMIM:607676
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun...	OMIM:613179
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ...	OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infectio...	OMIM:612783
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren...	ORPHA:331206
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S...	ORPHA:169090
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt...	OMIM:229050
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si...	OMIM:619707
Immunodeficiency 102	Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract...	OMIM:301082
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased...	ORPHA:169154
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome...	OMIM:615387
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi...	OMIM:308240
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro...	ORPHA:443811
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy...	OMIM:601495
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand...	OMIM:147060
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir...	ORPHA:98813
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc...	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto...	OMIM:618048
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia	OMIM:613496
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm...	OMIM:613011
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cell lymphoma, Eo...	OMIM:102700
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Felty Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha...	ORPHA:47612
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutrophil morphology...	ORPHA:51636
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect...	ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte...	OMIM:615468
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,...	OMIM:308230
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr...	ORPHA:88
Fanconi Anemia, Complementation Group E	Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen...	OMIM:600901
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva...	ORPHA:158048
Mirage Syndrome	Recurrent urinary tract infections, Myelodysplasia, Thrombocytopenia, Sepsis, Leukopenia, Recurre...	OMIM:617053
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Fanconi Anemia, Complementation Group A	Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen...	OMIM:227650
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ...	OMIM:608233
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Neutropenia	ORPHA:2643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Recurrent infections, Anemia, Neutropenia	OMIM:617056
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Recurrent infections, Neutropenia, Meningitis, Verrucae	ORPHA:33110
Aggressive Systemic Mastocytosis	Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno...	ORPHA:98850
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ...	ORPHA:2686
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Anemia, Neoplasm, Neutropenia...	ORPHA:47
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi...	ORPHA:167
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Sepsis, Anemia, Neutropenia	ORPHA:289916
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:619752
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 55	Absent natural killer cells, Myelodysplasia, Recurrent infections, Neutropenia, Lymphopenia	OMIM:617827
Fanconi Anemia, Complementation Group C	Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen...	OMIM:227645
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative ...	OMIM:614700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se...	OMIM:300755
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia...	ORPHA:508542
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma...	ORPHA:221139
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Prolonged G2 phase of c...	OMIM:227646
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Sepsis, Anemia, Leukopenia, Neutropenia, Meningitis...	ORPHA:292
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Neutropenia, Leukopenia, Hepatic hemangioma, Capillary hemangi...	ORPHA:2330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Anemia, Coombs-positive hemolytic an...	OMIM:304790
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Recurrent infections, Neoplasm of the skin, Neutropenia	OMIM:616395
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia	OMIM:258360
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphoma, Meningitis, Recurrent bacterial infections	ORPHA:36412
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Recurrent infections, Per...	OMIM:260400
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent infec...	OMIM:302060
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Aspergillosis	Eosinophilia, Hematological neoplasm, Unusual CNS infection, Invasive pulmonary aspergillosis, Ne...	ORPHA:1163
Acute Promyelocytic Leukemia	Pancytopenia, Chronic infection, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Fusariosis	Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Invasive fungal i...	ORPHA:228119
Chromomycosis	Recurrent bacterial infections, Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Leukopenia, Recurrent ba...	OMIM:300972
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Recurrent infections, Decre...	ORPHA:1830
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia	OMIM:615895
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Poikiloderma With Neutropenia	Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, Recurrent s...	OMIM:604173
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ...	OMIM:617303
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections	OMIM:248500
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Wiskott-Aldrich Syndrome	Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an...	ORPHA:906
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe...	OMIM:617052
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Diamond-Blackfan Anemia 7	Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren...	OMIM:612562
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Necrotizing Enterocolitis	Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Recurrent infections, Neutropenia, Lymphopenia,...	OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Glycogen Storage Disease Ib	Splenomegaly, Recurrent bacterial infections, Neutropenia	OMIM:232220
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Sepsis In Premature Infants	Neonatal sepsis, Disseminated viral infection, Splenomegaly, Leukocytosis, Severe infection, Anem...	ORPHA:90051
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Diamond-Blackfan Anemia	Acute myeloid leukemia, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia, Neutropenia,...	ORPHA:124
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Trichothiodystrophy	Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u...	ORPHA:33364
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Infectious encephalitis, Thrombocytopenia	ORPHA:540
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Wolcott-Rallison Syndrome	Iron deficiency anemia, Recurrent infections, Lymphocytosis, Neutropenia	ORPHA:1667
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	ORPHA:37042
Methylmalonic Acidemia With Homocystinuria Type Cblf	Recurrent infections, Neutropenia, Megaloblastic anemia	ORPHA:79284
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Hermansky-Pudlak Syndrome 10	Splenomegaly, Recurrent respiratory infections, Neutropenia	OMIM:617050
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus...	OMIM:607944
Shwachman-Diamond Syndrome 2	Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia	OMIM:617941
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas...	ORPHA:221008
Rothmund-Thomson Syndrome	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas...	ORPHA:2909
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage	OMIM:278800
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinom...	ORPHA:221016
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Ne...	OMIM:557000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Postinfectious Vasculitis	Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf...	ORPHA:48435
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Recurrent infections, Neutropenia	OMIM:615471
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen...	ORPHA:171
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Recurrent bacterial infections, Hemophagocytosis, Thrombo...	ORPHA:470
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Recurrent lower respiratory tract infections, Neutropenia	OMIM:618005
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:537
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutropenia	ORPHA:79430
Leigh Syndrome	Severe viral infection, Anemia, Neutropenia	ORPHA:506
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Glycogen Storage Disease Ic	Hepatoblastoma, Recurrent upper respiratory tract infections, Cyclic neutropenia	OMIM:232240
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections...	ORPHA:163956
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, Thrombocytopenia	ORPHA:50918
Zygomycosis	Brain abscess, Unusual skin infection, Hematological neoplasm, Invasive fungal infection, Neutrop...	ORPHA:73263
Cohen Syndrome	Neutropenia	ORPHA:193
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Severe infection, Anemia, Bone marrow hypocellularit...	ORPHA:699
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642
Aspartylglucosaminuria	Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia	OMIM:208400
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Sepsis, Anemia, Neutropenia	ORPHA:95455
Sponastrime Dysplasia	Recurrent pneumonia, Neutropenia	ORPHA:93357

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 Pml

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 Pml.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Pml^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pml^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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