Gene Summary

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

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 monocyte cell number Agbl4em1(IMPC)Mbp HOM   Early adult 9.98×10-07
increased freezing behavior Agbl4em1(IMPC)Mbp HET   Early adult 8.23×10-06
increased circulating bilirubin level Agbl4em1(IMPC)Mbp HOM Early adult 4.85×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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


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
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 1
Depression OMIM:125480
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... 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
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Immunodeficiency 69
Thrombocytosis, BCGosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Recurrent viral infections OMIM:617443
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Abnormal bleeding, Thrombocytosis, Abnormal erythrocyte morphology, Bone ma... ORPHA:86841
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Recurrent upper respiratory tract infections, Impaire... OMIM:614075
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619281
Thrombocythemia 2
Thrombocytosis OMIM:601977
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Geniospasm 1
Anxiety OMIM:190100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Recurren... ORPHA:3226
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... ORPHA:238459
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inade... OMIM:613673
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesi... ORPHA:824
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Recurrent bacterial infections, Chronic oral candid... OMIM:608233
Thrombocythemia 3
Thrombocytosis OMIM:614521
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Immunodeficiency 48
Hepatomegaly, Recurrent candida infections, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Prolonged bleeding time... OMIM:600903
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... ORPHA:324636
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Chorea, Benign Hereditary
Anxiety OMIM:118700
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Bruising susceptibility, Abnormal number of dense granules OMIM:614072
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hepatomegaly, Recur... OMIM:226300
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae... OMIM:612840
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Abnormal natural killer cell phys... OMIM:613101
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia OMIM:131400
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Recurrent bacterial skin infections, Neutropenia, Pancytopenia, Jaundice,... ORPHA:167
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Purpura, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurre... OMIM:615688
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage, Hep... ORPHA:90308
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... OMIM:150550
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
Mixed Connective Tissue Disease
Hemolytic anemia, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Me... ORPHA:809
Neurofibromatosis-Noonan Syndrome
Abnormality of the lymphatic system, Prolonged bleeding time ORPHA:638
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Chronic (near) absent circula... OMIM:614699
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Familial Thrombocytosis
Abnormal bleeding, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenome... ORPHA:71493
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Recurrent viral infections, Lymphadenopath... OMIM:603554
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Peritonitis, Recurrent tonsillitis, Thrombocytosis, Abnormal bleed... ORPHA:2968
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Persistent EBV viremia, Autoimmune hemolytic anemia, Decreased circu... OMIM:613011
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume,... ORPHA:84064
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Recurrent infections, Leukopenia, Spl... ORPHA:108
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Recurrent respiratory... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections, Lymphadenopathy OMIM:618048
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Hepatitis, Re... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Decreased circulating IgA leve... OMIM:212065
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Recurrent infections, Lymphadeno... OMIM:617718
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time, Leukocytosis, Acute pancreatitis, Hepatomegaly, Jaund... ORPHA:20
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Sepsis, Prolonge... ORPHA:49566
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Prolonged prothrombin ti... OMIM:212750
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, B lymphocytopenia, ... OMIM:619164
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Recurrent viral infections, Thrombocytopenia, Hepa... ORPHA:169090
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Visceromegaly, Ascites, Lymph... ORPHA:2905
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Petechiae, Splenomegal... ORPHA:158029
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 32B
Recurrent infections, Recurrent respiratory infections, Splenomegaly OMIM:226990
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, ... ORPHA:88
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Recurrent infections, Splenomegaly OMIM:605309
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:616100
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Meningitis, Diffuse alveolar h... OMIM:616050
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly ORPHA:134
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Felty Syndrome
Recurrent pneumonia, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutrope... ORPHA:47612
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eosinophilia, ... ORPHA:331206
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Intracranial hemorrhage, Generalized lymphadenopathy, Thrombocytope... ORPHA:3260
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Abnormal thrombocyte morphology ORPHA:172
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Abnormal bleeding, Abnormal macrophage morphology, Increased circulating antibody level, Pancytop... ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Throm... OMIM:617941
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Thrombocytosis, Increased circulating IgM level, Purpura, Leukocytosis, Thrombocytopenia, Hepatom... ORPHA:1304
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Increased mean platelet volume, Cholestasis, Hepatic fibrosis, Jaundic... OMIM:222470
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Recu... OMIM:616005
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Internal hemorrhage, Hemobilia, Polycythe... ORPHA:88673
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Abnormal platelet granules OMIM:614073
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Prolonged neonatal j... OMIM:170100
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Spontaneous, r... OMIM:214500
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
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, Recurrent funga... OMIM:102700
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycy... OMIM:613280
Neuroleptic Malignant Syndrome
Thrombocytopenia, Sepsis, Thrombocytosis, Leukocytosis ORPHA:94093
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Prolonged prothrombin time, Pancytopenia, Thrombocytopenia, Jaundice, Splenomeg... OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233710
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Follicular Lymphoma
Abnormality of the peritoneum, Meningitis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenop... ORPHA:545
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Autoimmune thrombocyt... OMIM:614700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Immunodeficiency 54
Recurrent viral infections, Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Recurr... OMIM:609981
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233690
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Congenital Bile Acid Synthesis Defect Type 2
Abnormal bleeding, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepa... ORPHA:79303
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass, Cerebral hemorrhage, S... OMIM:133100
Congenital Fibrinogen Deficiency
Abnormal bleeding, Splenic rupture, Internal hemorrhage, Right ventricular hypertrophy, Left vent... ORPHA:335
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality ... ORPHA:85212
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Splenomegaly, Recurrent pneumonia OMIM:604173
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Noonan Syndrome
Abnormal bleeding, Abnormality of the spleen, Hepatomegaly, Abnormal platelet function, Abnormali... ORPHA:648
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hepatomegaly, Recurrent infe... OMIM:617591
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly,... ORPHA:1451
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Epistaxis, Bruising susceptibility, Gingival bleeding OMIM:203300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Recurrent candida infections, Splenomegaly OMIM:201100
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hemophagocytosis, Purpura, Decreased circulating antibody level, Neutropenia, Thrombo... ORPHA:540
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Common Variable Immunodeficiency
Recurrent bronchitis, Hemolytic anemia, Autoimmune thrombocytopenia, Purpura, Decreased circulati... ORPHA:1572
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Cirrhosis, Decreased specific anti-polysaccharide antibody level, Cholestasis,... OMIM:614576
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, A... ORPHA:398124
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Gastrointestinal hemorrha... ORPHA:99147
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Meningitis, Hepatitis, Splenomegaly, Neu... ORPHA:829
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections, Anemia, Splenomegaly ORPHA:30
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Gaucher Disease, Type I
Epistaxis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Enlarged kidney, Pancreatic cysts, Subconjunctival hemorr... ORPHA:464329
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Sepsis In Premature Infants
Abnormal bleeding, Disseminated viral infection, Leukocytosis, Purpura, Neonatal sepsis, Neutrope... ORPHA:90051
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Lym... ORPHA:79477
Chronic Granulomatous Disease
Abnormality of neutrophils, Recurrent respiratory infections, Hepatomegaly, Meningitis, Splenomeg... ORPHA:379
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Abnormal lymphatic vessel morphology... ORPHA:2330
Hyper-Igd Syndrome
Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Increased circulating IgA level, Molluscum... OMIM:260920
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Caroli Syndrome
Leukocytosis, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Thrombocytopenia, Hypersplenism,... ORPHA:480520
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H... ORPHA:33226
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym... ORPHA:2442
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL chol... ORPHA:14
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... ORPHA:244242
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Hardikar Syndrome
Hyperbilirubinemia, Splenomegaly OMIM:612726
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Decreased plasma free carnitine, Ele... OMIM:608836
Q Fever
Purpura, Cholecystitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Hep... ORPHA:781
Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Cholelithiasis ORPHA:3166
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Hepatosplenomegaly, Prolonged prothrombin ... ORPHA:367
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Hyperbilirubinemia, Increased mean platelet volume, Schistocytosis, Anisopoikilocytosis, Acanthoc... OMIM:607330
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splen... ORPHA:77261
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Caroli Disease
Leukocytosis, Conjugated hyperbilirubinemia, Liver abscess, Splenomegaly ORPHA:53035
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Doors Syndrome
Thrombocytosis ORPHA:79500
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Intrahepatic cholestasis, Anisopoikilocytosis, Thrombocytopenia, Hepatomegaly, Abnormal platelet ... ORPHA:46059
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis ORPHA:168577
Isolated Biliary Atresia
Cirrhosis, Prolonged prothrombin time, Atretic gallbladder, Periportal fibrosis, Cholestasis, Hep... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating IgA level, Anemia, Recurrent pneumonia, Decreas... OMIM:612301
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis... ORPHA:731
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Prolonged prothrombin time OMIM:617049
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Purpura, Myeloproliferative disorder, Splenomegaly OMIM:254450
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Granuloma ORPHA:562639
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Primary Sclerosing Cholangitis
Cirrhosis, Polyclonal elevation of IgM, Neoplasm of the gallbladder, Hepatocellular carcinoma, Ch... ORPHA:171
Infantile Liver Failure Syndrome 2
Jaundice, Prolonged prothrombin time OMIM:616483
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Meningit... ORPHA:50918
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Splenomegaly OMIM:613610
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Acute Liver Failure
Abnormal bleeding, Hepatocellular necrosis, Gastrointestinal hemorrhage, Intracranial hemorrhage,... ORPHA:90062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Nodular regenerative hyperplasia of liv... ORPHA:404454
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Monosomy 13Q34
Hepatic steatosis, Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Abnormality of the liver, Prolonged prothrombin time ORPHA:88618
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Prolonged prothrombin time ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896


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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