Gene Summary

ATP/GTP binding protein-like 4
4930578N11Rik,  Ccp6,  4931433A01Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Agbl4em1(IMPC)Mbp HOM Early adult 3.33×10-09
increased freezing behavior Agbl4em1(IMPC)Mbp HET   Early adult 5.21×10-05
increased monocyte cell number Agbl4em1(IMPC)Mbp HOM   Early adult 9.82×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Agbl4 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 Agbl4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Panic Disorder 1
Anxiety OMIM:167870
Major Depressive Disorder
Depression OMIM:608516
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 1
Depression OMIM:125480
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia, BCGosis OMIM:618963
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Bleeding Disorder, Platelet-Type, 21
Recurrent viral infections, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocyto... ORPHA:86841
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Thrombocythemia 3
Thrombocytosis OMIM:614521
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Can... OMIM:619281
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Thrombocythemia 2
Thrombocytosis OMIM:601977
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... OMIM:619374
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Geniospasm 1
Anxiety OMIM:190100
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... ORPHA:238459
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Increased red blood cell m... OMIM:263300
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Fechtner syndrome
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... OMIM:153640
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... ORPHA:3226
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Recurrent upper respiratory tract infections, Impaire... OMIM:614075
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Diffuse alveolar hemorr... OMIM:614034
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... ORPHA:3318
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormal bleed... ORPHA:824
Myh9-Related Disease
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... ORPHA:182050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Recurrent otitis media, Chronic oral candidiasis, Hepatomegaly,... OMIM:608233
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Immunodeficiency 92
Decreased circulating IgA level, Hepatomegaly, Lymphocytosis, Leukocytosis, Recurrent oral herpes... OMIM:619652
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... OMIM:210250
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Recurrent bacterial infections, Pulmonary hemorrhage, Macrothrombocytope... OMIM:603585
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections OMIM:606445
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rh-Null, Regulator Type
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... ORPHA:721
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Recur... OMIM:226300
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Chorea, Benign Hereditary
Anxiety OMIM:118700
Wiskott-Aldrich Syndrome
Melena, Sepsis, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hyperse... OMIM:301000
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocu... OMIM:608971
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Thrombocytosis, Impaired lymph... OMIM:243150
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Wiskott-Aldrich Syndrome
Sepsis, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary he... ORPHA:906
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections, B lymphocytopenia, Splenomegaly OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recu... OMIM:613101
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytope... OMIM:607616
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Immunodeficiency 48
Recurrent candida infections, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD... OMIM:269840
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... OMIM:618534
Chédiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Jaundice, Lymphadenopat... ORPHA:167
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly... OMIM:615688
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil... OMIM:614493
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Ascites, Prolo... ORPHA:90308
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Abnormal bleeding, Thrombocytosis, Acute myeloid leuk... ORPHA:71493
Lymphoproliferative Syndrome 2
EBV meningitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplasti... OMIM:615122
Neurofibromatosis-Noonan Syndrome
Abnormality of the lymphatic system, Prolonged bleeding time ORPHA:638
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Meningitis... ORPHA:809
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Recurre... OMIM:150550
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Increased ... OMIM:618213
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:240500
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Leukocytosis, Recurrent tonsillitis, Polyc... ORPHA:2968
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy, Increased circul... OMIM:618495
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Chronic oral candidiasis, Hepatomegaly, Hemophagocytosis, Splenomegaly, D... OMIM:301078
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Syndromic Diarrhea
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Pan... ORPHA:84064
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Acquired Purpura Fulminans
Macular purpura, Sepsis, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonge... ORPHA:49566
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Recurrent upper and lower respiratory tract infections, Decreased circulating IgG level, Abnormal... ORPHA:79329
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... OMIM:300635
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infect... ORPHA:108
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... ORPHA:288
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Leukopenia, Acute pancreatitis, Th... ORPHA:20
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Prolo... OMIM:212750
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... OMIM:603552
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Thrombocytopenia, Lymphadeno... OMIM:617718
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis, Visceromegaly, Lymphadenopath... ORPHA:2905
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... ORPHA:169090
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Thrombocytosis, H... OMIM:212065
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Reduced natural killer cell count, Recurre... OMIM:301074
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... OMIM:153670
Immunodeficiency 32B
Recurrent infections, Recurrent respiratory infections, Splenomegaly OMIM:226990
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Interstitial Lung And Liver Disease
Hepatomegaly, Cirrhosis, Cholestasis, Thrombocytosis, Hepatic fibrosis, Anemia, Hepatic steatosis OMIM:615486
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Recurrent infections, Ecchymosis, Neutropeni... ORPHA:88
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Mediastinal lym... ORPHA:158029
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Beta-Ketothiolase Deficiency
Thrombocytosis, Hepatomegaly, Leukocytosis ORPHA:134
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Abnormality of the liver, Hepatomegaly, Leukocytosis, Splenomegaly, Leukopenia, Increased circula... ORPHA:1304
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p... OMIM:222470
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Meningitis, Panc... OMIM:616050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... ORPHA:3260
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections OMIM:605309
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple... OMIM:616100
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Wolfram Syndrome 2
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... OMIM:604928
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Polycythemia, Hepatic necrosis, ... ORPHA:88673
Felty Syndrome
Hepatomegaly, Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morph... ORPHA:47612
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent bacter... OMIM:613179
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections, Leukocytosis, Splenomegaly OMIM:618042
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal bleeding, Leukopenia, ... ORPHA:507
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural kil... OMIM:603553
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Abnormal platelet granules OMIM:614073
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, H... ORPHA:158048
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Normocytic anemia, Recu... OMIM:617941
Neuroleptic Malignant Syndrome
Thrombocytosis, Sepsis, Thrombocytopenia, Leukocytosis ORPHA:94093
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly, Bruising susce... OMIM:214500
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Prolidase Deficiency
Increased circulating antibody level, Petechiae, Hepatomegaly, Splenomegaly, Recurrent pneumonia,... OMIM:170100
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... OMIM:613280
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Abnorm... ORPHA:335
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... OMIM:233710
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeniti... OMIM:618935
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... OMIM:233690
Hereditary Spherocytosis
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... ORPHA:822
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Splenom... OMIM:614700
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Noonan Syndrome
Hepatomegaly, Abnormal bleeding, Abnormality of the spleen, Abnormality of the lymphatic system, ... ORPHA:648
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Hepatomegaly, Splenome... OMIM:102700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... ORPHA:231154
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased... OMIM:133100
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Recurrent infectio... OMIM:617591
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Recurrent pneumonia, Recurrent infections, Neutropenia, Thrombocyt... OMIM:616271
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, Splenomegaly, Bruising susc... ORPHA:540
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Prolonged bleedi... OMIM:203300
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... OMIM:611881
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis, Jaundice, ... OMIM:618641
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology,... ORPHA:2330
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Persistent bleeding after trauma, Subcutaneous hemorrhage, Hypochromic ... ORPHA:99147
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolyt... OMIM:603903
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Common Variable Immunodeficiency
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemi... ORPHA:1572
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Thrombocytopenia 1
Joint hemorrhage, Petechiae, Increased circulating IgA level, Bruising susceptibility, Congenital... OMIM:313900
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Recurrent respiratory infections, Splenomegaly ORPHA:30
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Epistaxis, Hypersplenism OMIM:230800
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae OMIM:273900
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie... OMIM:306400
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Cystic Echinococcosis
Hyperbilirubinemia, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis, Prolonged prothrombin time, Cerebellar hemorrhage ORPHA:99901
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Caroli Syndrome
Hyperbilirubinemia, Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Thrombocytopenia, Li... ORPHA:480520
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Refractory sideroblast... OMIM:557000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating IgA lev... OMIM:260920
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Hellp Syndrome
Cerebral hemorrhage, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Inter... ORPHA:244242
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Cholelithiasis, Hepatosplenomegaly, Hepatomegaly, Prolonged prothrombin time ORPHA:3166
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Portal hypertension, Ascites, Prolonged prothrombin ... ORPHA:367
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Reticulocytosis, Decreased... ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, H... OMIM:277900
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... OMIM:607330
Yellow Fever
Neutrophilia, Leukocytosis, Opportunistic infection, Abnormal bleeding, Pancreatic hyperplasia, H... ORPHA:99829
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Portal hypertension, Jaundice, ... ORPHA:309854
Isolated Biliary Atresia
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Prolonged prothrombin time, Cholestas... ORPHA:30391
Caroli Disease
Conjugated hyperbilirubinemia, Liver abscess, Leukocytosis, Splenomegaly ORPHA:53035
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Bleeding with minor or no trauma, Prolon... OMIM:619525
Doors Syndrome
Thrombocytosis ORPHA:79500
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Hepatomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Abnormal platelet morphology, Thromb... ORPHA:46059
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Tyrosinemia, Type I
Melena, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Enlarged kidney, Pancrea... OMIM:276700
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Spl... ORPHA:567983
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Stomatocytosis ORPHA:168577
Marburg Hemorrhagic Fever
Increased circulating antibody level, Petechiae, Lymphopenia, Pancreatitis, Bruising susceptibili... ORPHA:99826
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Prolonged bleeding time, Enlarged kidney OMIM:618280
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol... ORPHA:79277
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... ORPHA:447
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hepatitis, Intrahepatic chol... OMIM:614921
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Infantile Liver Failure Syndrome 2
Jaundice, Prolonged prothrombin time OMIM:616483
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... OMIM:619991
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Degcags Syndrome
Hyperbilirubinemia, Congenital hypoplastic anemia, Leukopenia, Abnormal spleen morphology, Hepato... OMIM:619488
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Ogden Syndrome
Polycythemia, Thrombocytopenia, Hyperbilirubinemia, Iron deficiency anemia OMIM:300855
Senior-Boichis Syndrome
Increased total bilirubin, Anemia, Hepatosplenomegaly ORPHA:84081
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Splenomegaly OMIM:613610
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Hardikar Syndrome
Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hypersplenism OMIM:301068
Acute Liver Failure
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hep... ORPHA:90062
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Classical Ehlers-Danlos Syndrome
Ecchymosis, Bruising susceptibility, Prolonged bleeding time ORPHA:287
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Nodular reg... ORPHA:404454
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Prolonged prothrombin time, Abnormality of the liver ORPHA:88618
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia OMIM:613658
Monosomy 13Q34
Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... OMIM:619534
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Prolonged prothrombin time ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Prolonged prothrombin time, Macrovesicular hepatic steatosis OMIM:618329
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250


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 Agbl4

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 Agbl4.

No publications found that use IMPC mice or data for Agbl4.

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MGI Allele Allele Type Produced
Agbl4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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