Gene Summary

Name:
laminin gamma 3
Synonyms:
N/A

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
increased grip strength Lamc3tm1a(KOMP)Wtsi HOM Early adult 9.71×10-05
thrombocytopenia Lamc3tm1a(KOMP)Wtsi HOM Early adult 3.29×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 68 images

View all 8 images

Human diseases caused by Lamc3 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 Lamc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Malformations, Occipital
OMIM:614115

The table below shows human diseases predicted to be associated to Lamc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Retinal Detachment
Retinal detachment OMIM:180050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Malaria
Anemia, Thrombocytopenia ORPHA:673
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Sengers Syndrome
Thrombocytopenia OMIM:212350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Babesiosis
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia OMIM:150550
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:79312
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Preeclampsia
Thrombocytopenia ORPHA:275555
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Abnormality of thrombocytes OMIM:187900
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Griscelli Syndrome
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:381
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:606003
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Impai... OMIM:214500
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia OMIM:251000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Leukopenia, Thrombocytopenia OMIM:613845
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Thrombocytopenia ORPHA:47
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:274150
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:64743
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Hypersplenism, Thro... OMIM:278000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly OMIM:259700
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Cyclic Neutropenia
Cyclic neutropenia, Lymphopenia, Thrombocytopenia, Decreased eosinophil count ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Prolidase Deficiency
Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Wilson Disease
Anemia, Thrombocytopenia, Splenomegaly ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:77259
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decreased proportion ... ORPHA:1830
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Anemia, Hypochromic microcytic anemia, Thrombocytopenia... OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocyto... OMIM:603553
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia ORPHA:391673
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Leukopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:308230
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:267700
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227645
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:169105
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia ORPHA:3322
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal platelet function, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Normocytic anemia OMIM:617941
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:608013
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Anemia, Thrombocytopenia ORPHA:464329
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... ORPHA:244242
Farber Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:333
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227646
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:277400
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319213
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Thrombocytopenia, Increased circulating metamyelocyte count ORPHA:36234
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Thrombocytopenia, Splenic abscess ORPHA:810
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:505248
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Gaucher Disease Type 3
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:77261
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Splenomegaly, Thrombocytopenia OMIM:300972
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Q Fever
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly ORPHA:781
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:222700
Dubowitz Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia, Acute lymphoblastic leukemia ORPHA:235
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Anemia, Thrombocytopenia OMIM:274000
Congenital Erythropoietic Porphyria
Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis,... ORPHA:79277
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Thrombocytopenia ORPHA:36426
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Megaloblastic anemia, Thrombocytopenia ORPHA:79282
Tangier Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:31150
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Thrombocytopenia ORPHA:537
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Anemia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:297
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Thrombocytopenia OMIM:612199
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Abnor... ORPHA:447
Caroli Syndrome
Leukocytosis, Leukopenia, Hypersplenism, Thrombocytopenia ORPHA:480520
Hepatocellular Carcinoma
Thrombocytosis, Anemia, Thrombocytopenia, Polycythemia ORPHA:88673
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia ORPHA:647
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Splenomegaly, Neutropenia, Anemia, Reticulocytosis, Thrombocyto... ORPHA:699
Rift Valley Fever
Anemia, Thrombocytopenia ORPHA:319251
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Thrombocytopenia, Hemolytic anemia, Decreas... OMIM:619573
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia ORPHA:163979
Dyskeratosis Congenita
Abnormality of neutrophils, Anemia, Thrombocytopenia, Splenomegaly ORPHA:1775
Brucellosis
Leukopenia, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:1304
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Deeah Syndrome
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619004
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytope... ORPHA:289390
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:305000
Fanconi Anemia
Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of the spleen, Thrombocytopenia ORPHA:2072
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Lymphopenia, Neutrophilia in presence of infection, R... ORPHA:99826
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Neutropenia, Anemia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Hemorrhagic Fever-Renal Syndrome
Anemia, Thrombocytopenia, Leukocytosis ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Gaucher Disease
Pancytopenia, Anemia, Thrombocytopenia, Splenomegaly ORPHA:355
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:567
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Neutrophilia, Splenomegaly, Thrombocytopenia ORPHA:99827
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia ORPHA:470
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Anemia, Thrombocytopenia, Splenomegaly OMIM:619525
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:301068
Chronic Visceral Acid Sphingomyelinase Deficiency
Autoimmune thrombocytopenia, Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Thrombocy... ORPHA:77293
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Splenomegaly OMIM:256040
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly ORPHA:731
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Sarcoidosis
Eosinophilia, Leukopenia, Increased T cell count, Anemia, Hemolytic anemia, Thrombocytopenia ORPHA:797
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Splenomegaly OMIM:188400
Leptospirosis
Thrombocytopenia ORPHA:509
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia OMIM:163950
Cortical Malformations, Occipital
OMIM:614115

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 Lamc3

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 Lamc3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lamc3tm1a(KOMP)Wtsi