Gene Summary

pleckstrin homology like domain, family B, member 1
D330037A14Rik,  LL5A

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 locomotor activity Phldb1em1(IMPC)J HOM Early adult 7.07×10-06
decreased bone mineral density Phldb1em1(IMPC)J HOM Early adult 9.26×10-05
thrombocytopenia Phldb1em1(IMPC)J HOM Early adult 2.28×10-05
decreased grip strength Phldb1em1(IMPC)J HOM Early adult 1.12×10-09
decreased bone mineral content Phldb1em1(IMPC)J HOM Early adult 2.27×10-07

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.


XRay Images Whole Body Lateral Orientation

3 Images


XRay Images Whole Body Dorso Ventral

3 Images


XRay Images Skull Dorso Ventral Orientation

3 Images


XRay Images Skull Lateral Orientation

3 Images


XRay Images Forepaw

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Phldb1 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 Phldb1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Gait imbalance, Anemia, Thrombocytopenia ORPHA:673
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Th... OMIM:611490
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Thrombocytopenia 6
Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Congenital thrombocytopenia, Radioulnar synostosis, Neut... OMIM:616738
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Joint laxity, Osteoporosis OMIM:614727
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Wt Limb-Blood Syndrome
Hypoplastic anemia, Joint contracture of the 5th finger, Radioulnar synostosis, Pancytopenia, Thr... OMIM:194350
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Anemia, Throm... ORPHA:848
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Leukopenia, Macrocytic anemia, Choreoathetosis, Anemia, Thrombocytopenia, Lethargy ORPHA:27
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... OMIM:139090
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Lethargy, Pancytopenia OMIM:243500
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Thrombocytopenia, Pancytopenia OMIM:613839
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Lethargy ORPHA:289916
Gamma-Heavy Chain Disease
Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune h... ORPHA:100026
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Splenomegaly, Pat... OMIM:259700
Gaucher Disease, Type Iii
Ataxia, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Specific Granule Deficiency 2
Osteopenia, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Gait ataxia OMIM:254900
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Patho... ORPHA:98850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Lethargy ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Lethargy ORPHA:79312
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Limitation of joint mobility ORPHA:108
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Propionic Acidemia
Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy OMIM:606054
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Systemic Lupus Erythematosus
Hemolytic anemia, Leukopenia, Thrombocytopenia, Arthritis OMIM:152700
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, ... OMIM:301078
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, Pathologic ... ORPHA:77259
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Arthritis, Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:229717
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Anemia, Thrombocytopenia, Camptodactyly OMIM:611209
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Thrombocytopenia OMIM:613990
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Felty Syndrome
Limitation of joint mobility, Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis... ORPHA:47612
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Leukopenia OMIM:618116
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar s... OMIM:605432
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Fetal Gaucher Disease
Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multiplex congenita,... ORPHA:85212
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Anemia, Arthritis, Impaired platelet aggregation, Chroni... OMIM:210250
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Lymphopenia, Aplastic anemia, Osteoporosis, Anemia, Thrombocytopenia OMIM:127550
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia OMIM:619151
Holocarboxylase Synthetase Deficiency
Ataxia, Thrombocytopenia, Lethargy ORPHA:79242
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Arthritis, Neutropen... OMIM:304790
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia, Inability to walk OMIM:616577
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio OMIM:150550
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Lethargy, Neutropenia OMIM:614857
Wilson Disease
Splenomegaly, Pathologic fracture, Arthritis, Difficulty walking, Anemia, Thrombocytopenia ORPHA:905
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Osteopenia, Thrombocytopenia, Waddling gait, Pancytopenia, Anemia, Abno... OMIM:242900
Gaucher Disease Type 3
Ataxia, Increased bone mineral density, Splenomegaly, Gait disturbance, Osteolysis, Increased sus... ORPHA:77261
Thrombocytopenia ORPHA:275555
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Lethargy, Neutropenia OMIM:251000
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Decreased osteoclast count, Splenomegaly, Osteopetrosis, Extramed... OMIM:259720
Dengue Fever
Leukopenia, Thrombocytopenia, Lethargy ORPHA:99828
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Osteopenia, Osteoporosis, Pathologic fracture, Increased susceptibility to fractures, Ane... OMIM:612199
Fibular Hemimelia
Joint stiffness, Decreased hip abduction, Abnormal bone ossification, Craniosynostosis, Limited k... ORPHA:93323
Griscelli Syndrome
Ataxia, Splenomegaly, Leukopenia, Abnormality of neutrophils, Thrombocytopenia ORPHA:381
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil ... OMIM:214500
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Thrombocytopenia, Dysmetria, Athetosis OMIM:617710
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Hepatosplenomegaly, Thrombocytopenia, Ataxia ORPHA:263501
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy OMIM:251100
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells OMIM:618048
X-Linked Agammaglobulinemia
Osteomyelitis, Arthritis, Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Lethargy OMIM:277380
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Gaucher Disease, Type I
Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Macrophage Activation Syndrome
Neutropenia, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthritis, Abnormal natural kill... ORPHA:158061
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Thrombocytopenia ORPHA:370924
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemolytic anemia, O... OMIM:263700
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia, Pathologic fracture OMIM:112200
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Osteoporosis OMIM:224230
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, Pathologic fract... OMIM:612394
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Ataxia, Anemia, Thrombocytopenia, Camptodactyly ORPHA:79325
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Shwachman-Diamond Syndrome 1
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia, Camptodactyly OMIM:608104
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Lethargy OMIM:253270
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Overlap Myositis
Rheumatoid arthritis, Leukopenia, Arthritis, Difficulty walking, Thrombocytopenia ORPHA:206572
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Necrotizing Enterocolitis
Lethargy, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Arthritis, Decreased proportion of ... OMIM:614700
Braddock-Carey Syndrome 1
Thrombocytopenia, Camptodactyly OMIM:619980
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Zika Virus Disease
Thrombocytopenia, Arthritis ORPHA:448237
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Flexion contracture, Leukopenia, Choreoathetosis, Neutropenia, Thrombocytopenia OMIM:616271
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flexion contracture, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocyt... OMIM:617303
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Ivic Syndrome
Joint stiffness, Leukocytosis, Synostosis of carpal bones, Radioulnar synostosis, Thrombocytopenia ORPHA:2307
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia, Lethargy ORPHA:319218
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Osteomyelitis, Neutropenia, Osteopenia, Leukopenia, Aplastic a... ORPHA:811
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia OMIM:614074
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Ataxia ORPHA:3322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Mevalonic Aciduria
Ataxia, Progressive cerebellar ataxia, Leukocytosis, Fluctuating splenomegaly, Normocytic hypopla... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Splenomegaly, Arthritis, Anemia, Thrombocytopenia OMIM:617591
Pseudo-Torch Syndrome 2
Thrombocytopenia, Lethargy OMIM:617397
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:606003
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancyto... ORPHA:158048
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia ORPHA:90045
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Arthritis OMIM:301054
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Arthrogryposis multiplex congenita, Craniosynostosis OMIM:301056
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Ataxia, Increased bone mineral density, Sple... ORPHA:355
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Thrombocytopenia, Leukopenia OMIM:613845
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Craniosynos... ORPHA:525731
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thr... OMIM:603553
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Mirage Syndrome
Lymphopenia, Radial club hand, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Hepatoportal Sclerosis
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:267700
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Bone-marrow foam cells, H... OMIM:278000
Ivic Syndrome
Carpal synostosis, Leukocytosis, Limited interphalangeal movement, Limited elbow movement, Radiou... OMIM:147750
Kaposiform Lymphangiomatosis
Splenomegaly, Fractures of the long bones, Abnormal spleen morphology, Hepatosplenomegaly, Osteol... ORPHA:464329
Farber Disease
Flexion contracture, Hepatosplenomegaly, Osteoporosis, Arthritis, Anemia, Thrombocytopenia ORPHA:333
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Lethargy,... OMIM:557000
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Ataxia, Neutropenia, Inability to walk, Vacuolated lymphocytes, He... ORPHA:167
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD... OMIM:608233
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Wiskott-Aldrich Syndrome
Neutropenia, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal plat... ORPHA:906
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Athetosis, Difficulty walking, Thrombocytopenia ORPHA:572798
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Gaucher Disease, Perinatal Lethal
Akinesia, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Anemia, Thrombocy... OMIM:608013
Cyclic Neutropenia
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count ORPHA:2686
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Osteopenia, Hepatosplenomegaly... ORPHA:391487
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Fanconi Anemia, Complementation Group C
Neutropenia, Flexion contracture, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytop... OMIM:227645
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Arthrogryposis multiplex congenita OMIM:208085
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Inability to walk, Splenomegaly OMIM:225750
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Ataxia, Thrombocytopenia, Camptodactyly OMIM:616737
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Lysinuric Protein Intolerance
Recurrent fractures, Hemophagocytosis, Splenomegaly, Leukopenia, Osteoporosis, Anemia, Thrombocyt... OMIM:222700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia, Arthritis ORPHA:464343
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemic rickets, Thrombocytopenia OMIM:619743
Congenital Erythropoietic Porphyria
Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... ORPHA:79277
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Myelofibrosis ORPHA:160
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Lethargy, Neutropenia OMIM:277400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis, Thrombocytopenia, Ost... ORPHA:464321
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Splenomegaly, Osteopenia, Autoimmune thrombocytopenia, Osteoporosis, Pathologic fracture,... ORPHA:77293
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Flexion contracture, Splenomegaly, Truncal ataxia, Limb joint contracture, Thrombocytopenia OMIM:301072
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Osteomyelitis, Arthritis, Increased circulating metamyeloc... ORPHA:36234
Wilson Disease
Splenomegaly, Osteoarthritis, Osteomalacia, Osteoporosis, Hemolytic anemia, Joint hypermobility, ... OMIM:277900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Inability to walk, Flexion contracture, Hepatosplenomegaly, Leukopenia, Anemia, ... ORPHA:505248
Thrombocytopenia, Abnormal bone ossification, B lymphocytopenia, Camptodactyly ORPHA:79324
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, Inability to walk ORPHA:457351
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Dyskeratosis Congenita
Recurrent fractures, Splenomegaly, Anemia, Osteoporosis, Abnormality of neutrophils, Coarse metap... ORPHA:1775
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocyto... ORPHA:2785
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Myelofibrosis, Splenomegaly, Leukocytosis, Myeloproliferative disorder, Eosinophili... ORPHA:3260
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Osteogenesis Imperfecta
Recurrent fractures, Ataxia, Loss of ambulation, Flexion contracture, Osteopenia, Fractures of th... ORPHA:666
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia, Camptodactyly ORPHA:261323
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Thrombocytopenia ORPHA:3320
Lysinuric Protein Intolerance
Hemophagocytosis, Osteopenia, Hepatosplenomegaly, Leukopenia, Osteoporosis, Pathologic fracture, ... ORPHA:470
Lujo Hemorrhagic Fever
Lymphopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Stiff neck ORPHA:319213
Dyskeratosis Congenita, X-Linked
Ataxia, Leukopenia, Osteoporosis, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:305000
Immunodeficiency 47
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Joint hypermobility, Thrombocytopenia OMIM:300972
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Leukopenia OMIM:603467
Dubowitz Syndrome
Craniosynostosis, Thrombocytopenia, Abnormality of neutrophils, Anemia, Acute lymphoblastic leuke... ORPHA:235
Splenic abscess, Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:810
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Ataxia, Neutropenia, Thrombocytopenia, Lethargy ORPHA:79282
Osteomyelitis, Leukocytosis, Splenomegaly, Leukopenia, Arthritis, Hip osteoarthritis, Thrombocyto... ORPHA:1304
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Lymphopenia, Craniosynostosis, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia OMIM:620005
Q Fever
Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:781
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Lethargy, Pancy... ORPHA:447
Fanconi Anemia, Complementation Group D2
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227646
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Roberts Syndrome
Craniosynostosis, Synostosis of carpal bones, Wrist flexion contracture, Radioulnar synostosis, P... ORPHA:3103
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Tick-Borne Encephalitis
Leukopenia, Stiff neck, Leukocytosis, Thrombocytopenia ORPHA:297
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Aicardi-Goutieres Syndrome 7
Splenomegaly, Arthritis, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:615846
Pearson Syndrome
Ataxia, Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thr... ORPHA:699
Insulin-Resistance Syndrome Type B
Osteoarthritis, Thrombocytopenia, Leukopenia ORPHA:2298
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Flexion contracture, Camptodactyly ORPHA:487796
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Arthritis, Neutrophilia in presence of i... ORPHA:99826
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Fused cervical vertebrae, Anem... OMIM:274000
Cornelia De Lange Syndrome 1
Thrombocytopenia, Elbow flexion contracture, Limited elbow extension OMIM:122470
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Limb ataxia, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Pancy... ORPHA:2072
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Fanconi Anemia
Reduced bone mineral density, Leukopenia, Anemia, Thrombocytopenia, Pyridoxine-responsive siderob... ORPHA:84
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Jacobsen Syndrome
Thrombocytopenia, Flexion contracture OMIM:147791
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Osteomalacia, Arthritis, Anemia, Thrombocytopenia, Joint hy... ORPHA:534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Anemia, Thrombocytopenia ORPHA:163979
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Kikuchi-Fujimoto Disease
Ataxia, Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Osteoporosis, Microcytic anemia, Anemia, Thrombocytopenia OMIM:619525
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Arthritis, Multiple suture craniosynostosis, Abnormality ... ORPHA:567
Hepatocellular Carcinoma
Polycythemia, Thrombocytosis, Anemia, Thrombocytopenia ORPHA:88673
Primary Sjögren Syndrome
Lymphopenia, Leukopenia, Normocytic anemia, Arthritis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Nijmegen Breakage Syndrome
Hemolytic anemia, Acute leukemia, Thrombocytopenia, Autoimmune hemolytic anemia ORPHA:647
Caroli Syndrome
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism ORPHA:480520
Tangier Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:31150
Hardikar Syndrome
Splenomegaly, Hepatosplenomegaly, Osteoporosis, Thrombocytopenia, Hypersplenism OMIM:301068
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Arthritis,... ORPHA:51
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis, Septic arthritis ORPHA:544482
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... OMIM:619573
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Flexion contracture, Splenomegaly, Camptodactyly of finger, Microc... OMIM:256040
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Exercise-Induced Malignant Hyperthermia
Ataxia, Thrombocytopenia, Lethargy ORPHA:466650
Ogden Syndrome
Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Pancytopenia, Stiff neck ORPHA:99827
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Bone cyst, Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell... ORPHA:797
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly ORPHA:731
Acute Liver Failure
Ataxia, Thrombocytopenia ORPHA:90062
Liver Disease, Severe Congenital
Lymphocytosis, Splenomegaly, Leukopenia, Joint laxity, Anemia, Thrombocytopenia OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Yellow Fever
Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly OMIM:188400
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis OMIM:163950
Thrombocytopenia ORPHA:509


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 Phldb1

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 Phldb1.

No publications found that use IMPC mice or data for Phldb1.

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MGI Allele Allele Type Produced
Phldb1tm80555(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Phldb1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Phldb1em1(IMPC)J Exon Deletion Mice

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