Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Phldb1 MGI:2143230

Gene Summary

Name:

pleckstrin homology like domain, family B, member 1

Synonyms:

D330037A14Rik, LL5A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral density	Phldb1^em1(IMPC)J	HOM	Early adult	9.33×10^-05
decreased bone mineral content	Phldb1^em1(IMPC)J	HOM	Early adult	2.30×10^-07
decreased locomotor activity	Phldb1^em1(IMPC)J	HOM	Early adult	1.08×10^-05
thrombocytopenia	Phldb1^em1(IMPC)J	HOM	Early adult	2.28×10^-05
decreased grip strength	Phldb1^em1(IMPC)J	HOM	Early adult	2.81×10^-09

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Forepaw

3 Images

View images

Auditory Brain Stem Response

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

8 Images

View 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.

Human diseases associated with Phldb1 (0 diseases)
Human diseases predicted to be associated with Phldb1 (418 diseases)

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	Matching phenotypes	Source
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Malaria	Anemia, Gait imbalance, Thrombocytopenia	ORPHA:673
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Anemia, Limite...	OMIM:616738
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis, Thrombocytopenia	OMIM:614727
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Wt Limb-Blood Syndrome	Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a...	OMIM:194350
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Choreoathetosis, Leukopenia, Anemia, Lethargy, Thrombocytopenia	ORPHA:27
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Isovaleric Acidemia	Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia	OMIM:243500
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:289916
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:79312
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Ataxia, Thrombocytopenia	OMIM:231000
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:606054
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Babesiosis	Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia	ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Systemic Lupus Erythematosus	Arthritis, Thrombocytopenia, Hemolytic anemia, Leukopenia	OMIM:152700
Isolated Agammaglobulinemia	Abnormality of neutrophils, Thrombocytopenia, Arthritis, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne...	OMIM:301078
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Ataxia, Thrombocytopenia	OMIM:249270
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Felty Syndrome	Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, N...	ORPHA:47612
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrogryposis multip...	ORPHA:85212
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th...	OMIM:605432
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Leukopenia, Thrombocytopenia	OMIM:613990
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Thrombocytopenia	ORPHA:79242
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia	OMIM:277480
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Cog4-Cdg	Ataxia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Athetosis, Ataxia, Thrombocytopenia, Dysmetria	OMIM:617710
Wilson Disease	Splenomegaly, Anemia, Arthritis, Difficulty walking, Pathologic fracture, Thrombocytopenia	ORPHA:905
Preeclampsia	Thrombocytopenia	ORPHA:275555
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropeni...	OMIM:242900
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Ataxia, Splenomegaly, Osteolysis, Increased suscept...	ORPHA:77261
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Lethargy, Thrombocytopenia, Neutropenia	OMIM:251000
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Dengue Fever	Leukopenia, Lethargy, Thrombocytopenia	ORPHA:99828
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:381
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251110
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocytopenia	OMIM:230800
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia	OMIM:224230
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Thrombocytopenia, Splenomegaly, Neutropenia, L...	OMIM:214500
X-Linked Agammaglobulinemia	Osteomyelitis, Anemia, Arthritis, Neutropenia, Thrombocytopenia	ORPHA:47
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia	OMIM:618048
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Macrophage Activation Syndrome	Splenomegaly, Abnormal natural killer cell count, Anemia, Hemophagocytosis, Neutropenia, Juvenile...	ORPHA:158061
Alg8-Cdg	Thrombocytopenia, Ataxia, Anemia, Camptodactyly	ORPHA:79325
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red...	OMIM:617052
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Pathol...	OMIM:612199
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia, Camptodactyly	OMIM:608104
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os...	OMIM:260400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Overlap Myositis	Arthritis, Leukopenia, Difficulty walking, Rheumatoid arthritis, Thrombocytopenia	ORPHA:206572
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Necrotizing Enterocolitis	Lethargy, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Flexion contracture, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:277380
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Braddock-Carey Syndrome 1	Thrombocytopenia, Camptodactyly	OMIM:619980
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia	ORPHA:3322
Zika Virus Disease	Arthritis, Thrombocytopenia	ORPHA:448237
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Pseudo-Torch Syndrome 2	Lethargy, Thrombocytopenia	OMIM:617397
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones	ORPHA:2307
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251100
Mevalonic Aciduria	Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly...	OMIM:610377
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia	ORPHA:319218
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Inability to walk, Flexion contracture, Anemia, Leukopenia, Neutropenia, Thrombocyt...	OMIM:617303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Arthrogryposis multiplex congenita, Leukopenia, Craniosynostosis	OMIM:301056
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Macrocytic anemia, Osteomyelitis, Aplastic anemia, Transient neutr...	ORPHA:811
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis...	ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thr...	OMIM:603553
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Flexion contracture, Anemia, Arthritis, Lymphopenia, Thrombocytopenia	OMIM:617591
Mirage Syndrome	Radial club hand, Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Pediatric-Onset Graves Disease	Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Craniosynos...	ORPHA:525731
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Holocarboxylase Synthetase Deficiency	Lethargy, Thrombocytopenia	OMIM:253270
Vexas Syndrome	Arthritis, Macrocytic anemia, Thrombocytopenia	OMIM:301054
Farber Disease	Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Anemia	ORPHA:333
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ata...	ORPHA:355
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Kaposiform Lymphangiomatosis	Fractures of the long bones, Thrombocytopenia, Splenomegaly, Osteolysis, Hepatosplenomegaly, Abno...	ORPHA:464329
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Vacuolated l...	ORPHA:167
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Lethargy, H...	OMIM:557000
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Dysmetria, Athetosis, Difficulty walking, Thrombocytopenia	ORPHA:572798
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Pediatric Systemic Lupus Erythematosus	Arthritis, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Gaucher Disease, Perinatal Lethal	Akinesia, Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex congenita, Thrombocy...	OMIM:608013
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Aicardi-Goutieres Syndrome 1	Inability to walk, Splenomegaly, Thrombocytopenia	OMIM:225750
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Increased mean platelet volume, Camptodactyly	OMIM:616737
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Recon Progeroid Syndrome	Joint laxity, Thrombocytopenia, Anemia	OMIM:620370
Fanconi Anemia, Complementation Group C	Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytop...	OMIM:227645
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Unsteady gait, Thrombocytopenia, Gait ataxia	OMIM:254900
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Thrombocytopenia, Anemia	OMIM:619743
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Catastrophic Antiphospholipid Syndrome	Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Castleman Disease	Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt...	OMIM:222700
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arthrogryposis multiplex congenita, Thrombocytopenia	OMIM:208085
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Thrombocytopenia	ORPHA:457351
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Patho...	ORPHA:77293
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Limb joint contracture, Splenomegaly, Flexion contracture, Truncal ataxia, Thrombocytopenia	OMIM:301072
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Increased circulating myelocyte count, Arthritis, Septic arthritis, Increased circ...	ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Alg12-Cdg	Abnormal bone ossification, B lymphocytopenia, Thrombocytopenia, Camptodactyly	ORPHA:79324
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Thrombocytopenia, Inability to walk, Flexion contracture, Hepatosplenomegaly, Le...	ORPHA:505248
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An...	ORPHA:1775
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Thrombocytopenia	OMIM:618775
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Lysinuric Protein Intolerance	Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Leukopenia, Lethargy, Hemophagocy...	ORPHA:470
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia, Camptodactyly	ORPHA:261323
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Osteogenesis Imperfecta	Osteopenia, Ataxia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion con...	ORPHA:666
Lujo Hemorrhagic Fever	Stiff neck, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A...	ORPHA:2785
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Thrombocytopenia	ORPHA:3320
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Dubowitz Syndrome	Abnormality of neutrophils, Craniosynostosis, Thrombocytopenia, Acute lymphoblastic leukemia, Joi...	ORPHA:235
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Joint hypermobility, Splenomegaly, Leukopenia, Thrombocytopenia	OMIM:300972
Atelis Syndrome 2	Thrombocytopenia, Anemia, Dysmetria	OMIM:620185
Shigellosis	Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia	ORPHA:810
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Osteoporosis, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Megaloblastic anemia, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:79282
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Brucellosis	Osteomyelitis, Thrombocytosis, Hypersplenism, Thrombocytopenia, Leukocytosis, Knee osteoarthritis...	ORPHA:1304
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620005
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Q Fever	Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:781
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos...	ORPHA:3103
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Stiff neck, Thrombocytopenia	ORPHA:297
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Arthritis, Thrombocytopenia	OMIM:615846
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thr...	ORPHA:699
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Cornelia De Lange Syndrome 1	Limited elbow extension, Elbow flexion contracture, Thrombocytopenia	OMIM:122470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly	ORPHA:487796
Oculocerebrorenal Syndrome Of Lowe	Recurrent fractures, Osteomalacia, Joint stiffness, Anemia, Joint hyperflexibility, Arthritis, Th...	ORPHA:534
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Arthritis, Leukopenia, Letha...	ORPHA:99826
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Fused cervical vertebrae, Carpa...	OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplen...	ORPHA:2072
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko...	ORPHA:84
Insulin-Resistance Syndrome Type B	Leukopenia, Osteoarthritis, Thrombocytopenia	ORPHA:2298
Jacobsen Syndrome	Flexion contracture, Thrombocytopenia	OMIM:147791
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Thrombocytopenia, Anemia	ORPHA:163979
Kikuchi-Fujimoto Disease	Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia	OMIM:619525
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Systemic Lupus Erythematosus	Arthritis, Thrombocytopenia, Hemolytic anemia, Leukopenia	ORPHA:536
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosynostosis, Joint hyperflexibili...	ORPHA:567
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Primary Sjögren Syndrome	Normocytic anemia, Arthritis, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positi...	ORPHA:289390
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia	OMIM:301068
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Leukocytosis, Hemolytic anemia, Thrombocytopenia	ORPHA:544482
Aicardi-Goutières Syndrome	Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, He...	ORPHA:51
Exercise-Induced Malignant Hyperthermia	Lethargy, Ataxia, Thrombocytopenia	ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Microcytic anemia, Splenomegaly, Flexion contracture, Elbow flexion cont...	OMIM:256040
Ogden Syndrome	Iron deficiency anemia, Polycythemia, Thrombocytopenia	OMIM:300855
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Stiff neck, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Sarcoidosis	Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Bone cyst, Leukopenia, ...	ORPHA:797
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Acute Liver Failure	Ataxia, Thrombocytopenia	ORPHA:90062
Liver Disease, Severe Congenital	Joint laxity, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis	OMIM:163950
Digeorge Syndrome	Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia	OMIM:188400
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
Phldb1^{tm80555(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Phldb1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Phldb1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Phldb1 MGI:2143230

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Phldb1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data