Gene Summary

Name:
pleckstrin homology like domain, family B, member 1
Synonyms:
D330037A14Rik,  LL5A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Phldb1em1(IMPC)J HOM Early adult 9.33×10-05
abnormal vocalization Phldb1em1(IMPC)J HOM Early adult 1.73×10-05
decreased grip strength Phldb1em1(IMPC)J HOM Early adult 2.93×10-09
decreased bone mineral content Phldb1em1(IMPC)J HOM Early adult 2.30×10-07
thrombocytopenia Phldb1em1(IMPC)J HOM Early adult 2.28×10-05
decreased locomotor activity Phldb1em1(IMPC)J HOM Early adult 1.08×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

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.

The table below shows human diseases associated to Phldb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures OMIM:620639

The table below shows human diseases predicted to be associated to Phldb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Neutropenia, Ataxia, ... OMIM:159550
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Malaria
Anemia, Gait imbalance, Thrombocytopenia ORPHA:673
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis OMIM:229050
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa... OMIM:259710
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th... OMIM:616738
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia, Joint hypermobility OMIM:614727
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Lethargy, Thrombocytopenia, Ataxia, Anemia, Choreoathetosis ORPHA:27
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Thrombocytopenia, Neutropenia, Anemia, Choreoathetosis ORPHA:289916
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Thrombocytope... OMIM:187900
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Ca... OMIM:259700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Isovaleric Acidemia
Lethargy, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:79312
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia OMIM:231000
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Stuve-Wiedemann Syndrome 2
Camptodactyly, Thrombocytopenia OMIM:619751
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Sengers Syndrome
Osteopenia, Thrombocytopenia OMIM:212350
Propionic Acidemia
Pancytopenia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Osteoporosis OMIM:606054
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Babesiosis
Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:108
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Osteopenia, Lymphopenia, Thrombocytopenia OMIM:620365
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Thrombocytopenia, Arthritis, Anemia, Abnormality of neutrophils ORPHA:229717
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Ataxia OMIM:249270
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Arthritis OMIM:152700
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Felty Syndrome
Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Neutropeni... ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Ataxia, An... OMIM:613990
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Flexion contracture, Art... ORPHA:85212
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Arthri... OMIM:210250
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Limited pronation/supination of forearm, Congenital thrombocytopenia, Amegakaryo... OMIM:605432
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra... ORPHA:98849
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia, Ataxia ORPHA:79242
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplen... ORPHA:77259
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia, Osteoporosis OMIM:613989
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Athetosis, Dysmetria, Ataxia OMIM:617710
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Ataxia ORPHA:263501
Schimke Immunoosseous Dysplasia
Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thrombocytopenia,... OMIM:242900
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Wilson Disease
Difficulty walking, Pathologic fracture, Splenomegaly, Arthritis, Thrombocytopenia, Anemia ORPHA:905
Von Willebrand Disease, Type 3
Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Gait disturbance, Thrombocytop... ORPHA:77261
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi... OMIM:259720
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia, Myelofibrosis ORPHA:457077
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Griscelli Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Abnormality of neutrophils ORPHA:381
Fibular Hemimelia
Limitation of joint mobility, Limited knee flexion/extension, Difficulty walking, Joint stiffness... ORPHA:93323
Dengue Fever
Lethargy, Leukopenia, Thrombocytopenia ORPHA:99828
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
X-Linked Agammaglobulinemia
Osteomyelitis, Thrombocytopenia, Neutropenia, Anemia, Arthritis ORPHA:47
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:290
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Gaucher Disease, Type I
Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gait disturbance, Abnormal... OMIM:214500
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Lethargy, Leukopenia, Neutropenia OMIM:251000
Alg8-Cdg
Camptodactyly, Anemia, Thrombocytopenia, Ataxia ORPHA:79325
Bcard Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Pathologic fract... OMIM:612394
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Jo... OMIM:617052
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures OMIM:620639
Von Willebrand Disease
Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Joint hemorrhage, Abnormal plat... ORPHA:903
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:222300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Thrombocytopenia OMIM:608104
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Juvenile rheumatoid arthri... ORPHA:158061
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Thrombocytopenia, Ataxia,... OMIM:612199
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Decreased proportion ... OMIM:614700
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Lethargy, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Thrombocytopenia, Camptodactyly OMIM:611209
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Blue Rubber Bleb Nevus
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Flexion contracture, Choreoathetosis OMIM:616271
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Braddock-Carey Syndrome 1
Camptodactyly, Thrombocytopenia OMIM:619980
Overlap Myositis
Rheumatoid arthritis, Difficulty walking, Leukopenia, Thrombocytopenia, Arthritis ORPHA:206572
Ebola Hemorrhagic Fever
Lymphopenia, Lethargy, Leukopenia, Thrombocytopenia ORPHA:319218
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Lethargy, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leukocytosis, Thromb... OMIM:610377
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Lethargy, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Anemia OMIM:277380
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia OMIM:617397
Zika Virus Disease
Thrombocytopenia, Arthritis ORPHA:448237
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Hoyeraal-Hreidarsson Syndrome
Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia ORPHA:3322
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Leukopenia, Arthrogryposis multiplex congenita, Thrombocytopenia OMIM:301056
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contr... OMIM:617303
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Thrombocytopenia, A... OMIM:603553
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume, Osteomyelitis,... ORPHA:811
Ivic Syndrome
Synostosis of carpal bones, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia ORPHA:2307
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Porphyria, Congenital Erythropoietic
Osteopenia, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Thrombocytopenia, R... OMIM:263700
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Anemia OMIM:267700
Mirage Syndrome
Radial club hand, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Neuroblastoma
Pathologic fracture, Antalgic gait, Thrombocytopenia, Ataxia, Anemia ORPHA:635
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Pediatric-Onset Graves Disease
Craniosynostosis, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antib... ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Arthritis, Thrombocytopenia, Anemia, Flexion contracture OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Necrotizing Enterocolitis
Lethargy, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, A... ORPHA:158048
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:614576
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thromb... ORPHA:464329
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Farber Disease
Hepatosplenomegaly, Arthritis, Thrombocytopenia, Anemia, Osteoporosis, Flexion contracture ORPHA:333
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr... ORPHA:906
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia, Arthritis OMIM:301054
Gaucher Disease
Splenic infarction, Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ... ORPHA:355
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, Arthritis ORPHA:93552
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia OMIM:253270
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Dysmetria, Thrombocytopenia, Ataxia, Athetosis ORPHA:572798
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Lethargy, Refractory sideroblastic anemia, Reticulocytopenia,... OMIM:557000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Ivic Syndrome
Carpal synostosis, Leukocytosis, Limited elbow movement, Radioulnar synostosis, Limited interphal... OMIM:147750
Gaucher Disease, Perinatal Lethal
Akinesia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia, Arthrogryposis multiplex co... OMIM:608013
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Aicardi-Goutieres Syndrome 1
Inability to walk, Splenomegaly, Thrombocytopenia OMIM:225750
Takenouchi-Kosaki Syndrome
Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Ataxia OMIM:616737
Castleman Disease
Anemia, Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neut... ORPHA:391487
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Thrombocytopenia, Normochromic anemia OMIM:254900
Preeclampsia
Thrombocytopenia ORPHA:275555
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Arthritis ORPHA:464343
Recon Progeroid Syndrome
Anemia, Thrombocytopenia, Joint hypermobility OMIM:620370
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemic rickets, Thrombocytopenia OMIM:619743
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac... OMIM:227645
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Congenital Syphilis
Periostitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Thrombocytopenia, Anemia ORPHA:499009
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis, Recurrent fra... OMIM:222700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Thrombocytopenia OMIM:208085
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm... ORPHA:79277
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Tracheomalacia, Lymphopenia, Pancytopenia, Leukopenia, Joint hypermobility, Thrombocytopenia, Anemia OMIM:620654
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis, Ost... ORPHA:464321
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Thrombocytopenia ORPHA:457351
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Joint hypermobility, Gait disturbance, Thrombocytope... ORPHA:870
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Increased circulating myelocyte count, Thrombocytopenia, Arthritis, Septic arthrit... ORPHA:36234
Alg12-Cdg
Camptodactyly, Thrombocytopenia, Abnormal bone ossification, B lymphocytopenia ORPHA:79324
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Dyskeratosis Congenita
Coarse metaphyseal trabecularization, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis, Abnor... ORPHA:1775
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Limb joint contracture, Thrombocytopenia, Ataxia, Truncal ataxia, Flexion contracture OMIM:301072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Joint stiffness, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Fle... ORPHA:505248
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Pathologic fracture, Hypersplenism, Splenomegaly, Thrombocytopenia, Ataxia, Acute pro... ORPHA:77293
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Abnormal cortical bone morphology, Increased susceptibil... ORPHA:666
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Arthritis, Neutroph... ORPHA:3260
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
21Q22.11Q22.12 Microdeletion Syndrome
Camptodactyly, Anemia, Thrombocytopenia ORPHA:261323
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Lysinuric Protein Intolerance
Osteopenia, Hemophagocytosis, Pathologic fracture, Hepatosplenomegaly, Leukopenia, Lethargy, Thro... ORPHA:470
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Lujo Hemorrhagic Fever
Stiff neck, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:319213
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Fused cervical vertebrae ORPHA:3320
Dubowitz Syndrome
Joint hypermobility, Thrombocytopenia, Anemia, Craniosynostosis, Abnormality of neutrophils, Acut... ORPHA:235
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Ataxia, Anemia, Osteoporosis OMIM:305000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Joint hypermobility, Thrombocytopenia OMIM:300972
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Splenic abscess, Thrombocytopenia, Arthritis ORPHA:810
Atelis Syndrome 2
Anemia, Thrombocytopenia, Dysmetria OMIM:620185
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Osteopetrosis, Thrombocytopenia, Elliptocytosis, Anemia, Recurrent frac... ORPHA:2785
Multiple Mitochondrial Dysfunctions Syndrome 7
Lethargy, Thrombocytopenia OMIM:620423
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Lethargy, Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Lathosterolosis
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Wilson Disease
Osteomalacia, Splenomegaly, Joint hypermobility, Osteoarthritis, Thrombocytopenia, Anemia, Osteop... OMIM:277900
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Brucellosis
Hip osteoarthritis, Sacroiliac arthritis, Osteomyelitis, Hypersplenism, Leukopenia, Leukocytosis,... ORPHA:1304
Q Fever
Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia ORPHA:781
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia, Craniosynostosis OMIM:620005
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227646
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Lethargy, Abnormal erythrocyte ... ORPHA:447
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Roberts Syndrome
Synostosis of carpal bones, Knee flexion contracture, Radioulnar synostosis, Wrist flexion contra... ORPHA:3103
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Arthritis, Thrombocytopenia, Anemia, Hemolytic anemia OMIM:615846
Tick-Borne Encephalitis
Stiff neck, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Ataxia, Anemia, Thrombocytopenia, Hypop... ORPHA:699
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Limited elbow extension, Thrombocytopenia OMIM:122470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Flexion contracture, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Thrombocytopenia ORPHA:36426
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Joint stiffness, Joint hypermobility, Arthritis, Thrombocytopenia, Anemia, Recurren... ORPHA:534
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Fanconi Anemia
Leukopenia, Thrombocytopenia, Anemia, Reduced bone mineral density, Pyridoxine-responsive siderob... ORPHA:84
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Arthritis, Thrombocytopen... OMIM:620376
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia, Osteoarthritis ORPHA:2298
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Fuse... OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Limb ataxia, Pancytopenia, Splen... ORPHA:2072
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Jacobsen Syndrome
Flexion contracture, Thrombocytopenia OMIM:147791
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia, Osteoporosis OMIM:619525
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hyperextensibility of the finger joints ORPHA:163979
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Ataxia, Anemia, Thrombocytopenia ORPHA:50918
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Multiple suture craniosynostosis, Splenomegaly, Joint hypermobility,... ORPHA:567
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Nijmegen Breakage Syndrome
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia ORPHA:647
Caroli Syndrome
Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Osteoporosis OMIM:301068
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:31150
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Difficulty walking, Hepatosplenomegaly, Multiple joint cont... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Elbow flexion contracture, Microcytic anemia, Splenomegaly, Flexion cont... OMIM:256040
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Exercise-Induced Malignant Hyperthermia
Lethargy, Thrombocytopenia, Ataxia ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Anemia, Leukocytosis, Thrombocytopenia ORPHA:340
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Arthritis ORPHA:536
Crimean-Congo Hemorrhagic Fever
Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia ORPHA:99827
Sarcoidosis
Leukopenia, Bone cyst, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic ... ORPHA:797
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism ORPHA:731
Acute Liver Failure
Thrombocytopenia, Ataxia ORPHA:90062
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Joint hypermobility, Lymphocytosis, Thrombocytopenia, Anemia OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia ORPHA:99829
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia OMIM:188400
Noonan Syndrome 1
Synovitis, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950
Leptospirosis
Thrombocytopenia ORPHA:509

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 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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