Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SAC3 domain containing 1
Synonyms:
Shd1,  2410004C24Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sac3d1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sac3d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Ly... OMIM:618495
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovarian insufficienc... ORPHA:100025
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism,... OMIM:615234
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries ORPHA:2969
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Maculopapular Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:79457
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Hepatitis, Ap... OMIM:300635
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Abnormality of the thyroid gland, Diabetes mellitus, Granuloma ORPHA:542592
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Decreased serum testosterone concentration, Splenomegaly,... OMIM:201100
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly, Adren... ORPHA:75233
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Lympha... ORPHA:3162
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Hepatomegaly, Hypereos... OMIM:617388
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Proteus Syndrome
Ovarian neoplasm, Thymus hyperplasia, Macroorchidism, Neoplasm of the thymus, Splenomegaly, Testi... ORPHA:744
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Immunodeficiency 32B
Splenomegaly OMIM:226990
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Hepatosplenomegaly OMIM:612526
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Dela... OMIM:611881
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Adrenal calcification ORPHA:75234
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233710
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency, Reduced natural killer cell count, Hep... OMIM:609981
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:306400
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Abnormal abdomen morphology, Interface hepatitis, Hypoplasia of the ... OMIM:243150
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Jaundice, ... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Spleno... OMIM:617591
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice... OMIM:170100
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Omenn Syndrome
Leukocytosis, Thyroiditis, Hypothyroidism, Abnormal lymphocyte morphology, Lymphadenopathy, Hepat... ORPHA:39041
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Thyroiditis, Increased circulating antibody level, S... ORPHA:2137
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatos... OMIM:260920
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Jaundice, Splenomegaly, Hepatomegaly, Anemia, L... OMIM:603553
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Neutropenia, Thr... OMIM:608233
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Ascites, Spl... OMIM:235200
Glycogen Storage Disease Ixc
Cirrhosis, Bile duct proliferation, Hepatomegaly, Splenomegaly OMIM:613027
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau... OMIM:615512
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Panhypogammaglobulinemia, Increased mean ... ORPHA:84064
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Multiple Myeloma
Decreased circulating antibody level, Splenomegaly, Increased circulating IgG level, Anemia, Incr... ORPHA:29073
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Hashimoto thyroi... OMIM:615688
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:257220
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leukemia, Monoclonal i... ORPHA:33226
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundice, Hepatomegaly OMIM:214110
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:607625
Q Fever
Increased circulating antibody level, Cholecystitis, Granuloma, Thrombocytopenia, Hepatomegaly, H... ORPHA:781
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Pancreatic cysts, Hepatic cysts, Periportal fibrosis, Hepatomegaly, Splenomegaly... OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Delayed puberty, Hepatomega... ORPHA:77261
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly, Elevated circulating parathyroid... OMIM:239200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly OMIM:612852
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Congenital hypothyroidism, Pancrea... OMIM:610199
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Primary Sclerosing Cholangitis
Cirrhosis, Polyclonal elevation of IgM, Thyroiditis, Hepatocellular carcinoma, Cholelithiasis, Ch... ORPHA:171
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Hypothyroidism, Periportal fibrosis, Hypopituitarism, Cholestasis... ORPHA:30391
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Peritonitis, Recurrent tonsillitis, Thrombocytosis, Hyperinsulinem... ORPHA:2968
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Enlarged lacrimal glands, Increased circulating antibody level,... OMIM:181000
Brucellosis
Lung abscess, Thrombocytosis, Increased circulating IgM level, Leukocytosis, Orchitis, Granuloma,... ORPHA:1304
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Enlargement of parotid... ORPHA:50918
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Impai... ORPHA:567
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Decreased response to growth hormone stimuati... ORPHA:1896
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Treacher-Collins Syndrome
Hypoplasia of the thymus, Cryptorchidism, Thyroid hypoplasia, Abnormality of the adrenal glands ORPHA:861
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Right ventricular hypertrophy, Cardiomegaly ORPHA:3384

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 Sac3d1

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 Sac3d1.

No publications found that use IMPC mice or data for Sac3d1.

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MGI Allele Allele Type Produced
Sac3d1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sac3d1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sac3d1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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