Gene Summary

RAN binding protein 17

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
abnormal stomach morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
anophthalmia Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
thrombocytosis Ranbp17em1(IMPC)Tcp HOM Early adult 5.54×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

76 Images

Gross Pathology and Tissue Collection


11 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Ranbp17 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 Ranbp17 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Thrombocythemia 2
Thrombocytosis OMIM:601977
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Thrombocythemia 3
Thrombocytosis OMIM:614521
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Colitis OMIM:604416
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Syndromic 12
Anophthalmia, Bicornuate uterus, Cryptorchidism, Microphthalmia OMIM:615524
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Matthew-Wood Syndrome
Microphthalmia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophtha... ORPHA:2470
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia OMIM:164180
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia OMIM:600776
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Anencephaly 2
Median cleft palate, Anophthalmia, Cleft of alveolar ridge of maxilla OMIM:619452
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia OMIM:248450
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Abnormal intestine morphology, Hepatomegaly, Ascites, Iron deficiency anemia, Mal... OMIM:226300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Meckel Syndrome, Type 8
Anophthalmia, Cleft palate, Microphthalmia OMIM:613885
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Cryptor... ORPHA:77298
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Anophthalmia, Splenogonadal fusion, Intestinal mal... OMIM:156810
Microphthalmia, Syndromic 5
Cleft palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Ectopic posterior... OMIM:610125
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism ORPHA:281090
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Malabsorption, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia ORPHA:2717
Trisomy 13
High, narrow palate, Cleft palate, Microphthalmia, Abnormal morphology of female internal genital... ORPHA:3378
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Abnormal fallopian tube morphology, Cryp... ORPHA:2189
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia,... OMIM:206900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... OMIM:615934
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Microphthalmia, Rectovag... ORPHA:2538
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Anemia, Neutropenia, Splenomegaly OMIM:602079
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Esophageal varix, Leukopenia, Lymphadenopathy, Anemia... OMIM:615688
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia ORPHA:139471
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Hypoplasia of penis ORPHA:66625
Poems Syndrome
Thrombocytosis, Ascites, Polycythemia, Lymphadenopathy, Hypogonadism, Increased circulating prola... ORPHA:2905
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Dysphagia, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia,... ORPHA:3260
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Anophthalmia, Cleft palate ORPHA:1104
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Esophageal varix, Hemobilia, Ascites, Polycythemia, Hepatic necrosi... ORPHA:88673
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Precocious puberty, Anophthalmia OMIM:615877
Cockayne Syndrome Type 2
Anophthalmia, Hepatomegaly, Cryptorchidism, Male hypogonadism ORPHA:90322
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficienc... OMIM:212065
Meckel Syndrome
Cleft palate, True hermaphroditism, Pancreatic cysts, Asplenia, Microphthalmia, Congenital hepati... ORPHA:564
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepat... OMIM:222470
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoimmune thrombocytope... ORPHA:324636
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Colitis, Hepatitis, Splenomegaly, Pancytopenia... OMIM:300635
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Hypogonadism OMIM:613313
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, High palate, Neutropenia, Elevated red cell adenosine deaminase leve... ORPHA:124
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Microphthalmia, Anophthalmia, External genital hypoplasia, Bifid uvula, Hypogonadis... ORPHA:2250
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Microphthalmia With Limb Anomalies
Anophthalmia, High palate, Cleft palate, Microphthalmia OMIM:206920
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... OMIM:602347
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Celiac disease, Iron deficiency anemia, Steatorrhea OMIM:212750
Walker-Warburg Syndrome
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Cryptorchidism, Hypoplasia of penis, Sub... ORPHA:899
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithias... ORPHA:848
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Microphthalmia, Syndromic 9
Anophthalmia, Bicornuate uterus, Bilateral microphthalmos, Multilobulated spleen, Cryptorchidism,... OMIM:601186
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Epididymitis, Anemia, Sp... ORPHA:1304
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Trisomy 1Q
Cleft palate, Anophthalmia, Small scrotum, Anal atresia, Ambiguous genitalia, Cryptorchidism ORPHA:261344
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hyp... OMIM:147250
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... ORPHA:20
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Splenomegaly, Abno... ORPHA:2585
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Esophageal atresia, Anal atresia, Abnormal fallopian tube morpholog... ORPHA:3412
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Cholestasis OMIM:615486
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Hypochromic anemia, Eosinophilic infiltration of the esophagus, Per... OMIM:618213
Beta-Ketothiolase Deficiency
Leukocytosis, Hepatomegaly, Thrombocytosis ORPHA:134
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly OMIM:121300
Wolman Disease
Hepatomegaly, Esophageal varix, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea ORPHA:75233
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... ORPHA:2930
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytope... ORPHA:290
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypo... ORPHA:381
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Diamond-Blackfan Anemia 1
Thrombocytosis, High palate, Cleft palate, Neutropenia, Elevated red cell adenosine deaminase lev... OMIM:105650
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Lymphadenopathy, Abnormal lymphocyte morphology,... ORPHA:100026
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... OMIM:616050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Recurrent tonsillitis, Splenomegaly, Crohn's disease, Perianal ab... OMIM:618935
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... OMIM:150550
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Anemia, Male hypogonadism, Cryptorchidism ORPHA:90321
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Esophageal varix, Leukopenia, Hepatic fibrosis, Bon... OMIM:278000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... OMIM:616100
Hemochromatosis, Type 2A
Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis OMIM:602390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... OMIM:612714
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Neuroleptic Malignant Syndrome
Leukocytosis, Dysphagia, Thrombocytopenia, Thrombocytosis ORPHA:94093
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly OMIM:618107
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Abnormality of the spleen, Microphthalmia, Hypoplasia of penis, Median cleft lip and palate, Anop... ORPHA:2162
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Fraser Syndrome
Hypospadias, Abnormal vagina morphology, High palate, Microphthalmia, Ectopic anus, Urethral atre... ORPHA:2052
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of memory B cells, ... OMIM:618394
Holoprosencephaly 9
Bilateral cleft lip and palate, Cleft palate, Microphthalmia, Anophthalmia, Decreased response to... OMIM:610829
Cerebrooculonasal Syndrome
High palate, Cleft palate, Anophthalmia, Narrow palate, Hypoplastic male external genitalia OMIM:605627
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, High, narrow palate, Cryptorchidism, Aniridia ORPHA:1101
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma, Erythroid hyperplasia, ... ORPHA:231222
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the ... OMIM:612541
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, High palate, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Azoospermia, Hypogonadotropi... OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Intrahepatic chole... OMIM:613812
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Ascites, Splenomegaly, Abnormality of the ... ORPHA:1655
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Abnormal penis morphology, Microphthalmia, Anophthalmia, Abnormality of the anus, Cl... ORPHA:2556
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Intrahe... OMIM:607765
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Bone marrow hypocellularity, Vaginitis, ... ORPHA:2968
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Immunodeficiency 32B
Splenomegaly OMIM:226990
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Fraser Syndrome 1
Hypospadias, Cleft palate, Abnormality of the small intestine, Anophthalmia, Abnormality of the a... OMIM:219000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, External ... OMIM:601095
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Clitoral... OMIM:606003
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Charge Syndrome
Cleft palate, Duodenal atresia, Micropenis, Microphthalmia, Anophthalmia, Hypogonadotropic hypogo... OMIM:214800
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... OMIM:174900
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism, Optic nerve aplasia ORPHA:264200
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice OMIM:235555
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... ORPHA:801
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hypoplasia of the iris, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic ... ORPHA:169090
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... OMIM:614700
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Charge Syndrome
Cleft palate, Bifid scrotum, Microphthalmia, Abnormal morphology of female internal genitalia, La... ORPHA:138
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... ORPHA:398124
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Ascites, Xerostomia, Cirrhosis, Gast... ORPHA:779
Caroli Disease
Leukocytosis, Cholangitis, Hepatomegaly, Esophageal varix, Cholangiocarcinoma, Hepatic fibrosis, ... ORPHA:53035
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Ascites, Splenomegaly ORPHA:2414
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... ORPHA:158061
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Splenomegaly, Portal hypertensio... OMIM:263200
Focal Dermal Hypoplasia
Cleft palate, Hypoplastic nipples, Microphthalmia, Labial hypoplasia, Anophthalmia, Aniridia, Int... OMIM:305600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... OMIM:308230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... ORPHA:905
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, High palate, Cleft palate, Narrow palate, Ambiguous genitali... ORPHA:79500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... OMIM:610199
Marden-Walker Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Cleft palate, Microphthalmia, Mi... OMIM:248700
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Hepatocellular carcinoma, Hepatic fibrosis, Sp... ORPHA:231226
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Ascites, Splenomegaly, Thyro... OMIM:235255
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, U... ORPHA:220460
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellu... ORPHA:231214
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Cryptorchidism, Hypospadias OMIM:218350
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... ORPHA:2137
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Bifid uvula, Cryptorchidism, Precocious puberty ORPHA:96184
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Craniofacial Microsomia
Anophthalmia, Cleft palate, Microphthalmia OMIM:164210
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h... ORPHA:47612
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Thro... ORPHA:540
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Cryoglobulinemic Vasculitis
Hepatomegaly, Gastrointestinal infarctions, Mediastinal lymphadenopathy, Splenomegaly, Abnormalit... ORPHA:91138
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis OMIM:613027
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Portal fibrosis, Hepatic fibrosis, Poly... ORPHA:370
Branchiooculofacial Syndrome
Pyloric stenosis, Hypospadias, Cleft palate, Ectopic thymus tissue, Microphthalmia, Anophthalmia,... OMIM:113620
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Hypospadias, High palate, Bifid scrotum, Microphthalmia, Anal atresia, Left ven... OMIM:619148
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... OMIM:608233
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Splenomegaly, Achalasia ORPHA:3386
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Xerostomia, Lymphadenopathy, Splenomegaly,... ORPHA:809
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... ORPHA:77259
Microphthalmia, Syndromic 6
Hypospadias, High palate, Cleft palate, Bifid scrotum, Microphthalmia, Anophthalmia, Small scrotu... OMIM:607932
Joubert Syndrome 21
Anophthalmia OMIM:615636
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Malabso... ORPHA:77297
Congenital Tracheal Stenosis
Fetal ascites, Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointe... ORPHA:141127
8P11.2 Deletion Syndrome
High palate, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Spher... ORPHA:251066
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Esophageal varix, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Anemia, He... ORPHA:264580
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphadenopathy, Splenomegaly, Anal atresia, Abnormality of the li... ORPHA:1572
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Esophageal varix, Splenomegaly OMIM:616028
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Anophthalmia, Microphthalmia ORPHA:2526
Proboscis Lateralis
High palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Microphthalmia, Syndromic 2
Hypospadias, Microphthalmia, Anophthalmia, Bifid uvula, Septate vagina, Cryptorchidism, Submucous... OMIM:300166
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural killer cells, ... ORPHA:2442
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... ORPHA:567983
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia... OMIM:603553
Dyskeratosis Congenita
Hepatomegaly, Abnormal morphology of female internal genitalia, Urethral stenosis, Anemia, Malabs... ORPHA:1775
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Jacobsen Syndrome
Pyloric stenosis, Hypospadias, Microphthalmia, Annular pancreas, Labial hypoplasia, Macular hypop... OMIM:147791
Myeloproliferative disorder, Splenomegaly OMIM:254450
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Splenomegaly, Cirrhos... ORPHA:30391
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Dysphagia, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal ... OMIM:257220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:37042
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Meckel Syndrome, Type 1
Cleft palate, Malformation of the hepatic ductal plate, Microphthalmia, Asplenia, Bile duct proli... OMIM:249000
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233690
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Splenomegaly, Hepatic steatosis, Ileus OMIM:613327
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Dysphagia, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal ... OMIM:607625
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Ectopic anus, Anal atresia, Abnormality of the uterus, Bre... ORPHA:3138
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Rectal prolapse, Aganglionic meg... OMIM:309800
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... ORPHA:158048
Postaxial Acrofacial Dysostosis
Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis, Cryptorchidism, Supernumerary nipple OMIM:263750
Familial Mediterranean Fever
Gastrointestinal infarctions, Ascites, Peritonitis, Lymphadenopathy, Malabsorption, Pancreatitis,... ORPHA:342
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Splenomegaly, Cirrhosis, Accessory... OMIM:300972
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular car... ORPHA:171
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Crohn's disease, Neutrophilia, Orchitis OMIM:249100
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... ORPHA:1199
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Esophageal varix, Polycythemia, Micronodular cirrhosis, Splenomegaly, Abnormality o... ORPHA:309854
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Aplasia/Hypoplasia o... ORPHA:93111
Pearson Syndrome
Hepatomegaly, Dysphagia, Hypoparathyroidism, Neutropenia, Median cleft lip and palate, Macronodul... ORPHA:699
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, S... ORPHA:50918
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Ileus, Splenomegaly, Hypogonadism, Microcolon ORPHA:163746
Degcags Syndrome
Pyloric stenosis, Hypospadias, Hepatosplenomegaly, Pancytopenia, Oral-pharyngeal dysphagia, Intes... OMIM:619488
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... OMIM:276700
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Gastrointestinal hemorrhage, Steatorrhea, Biliary cirrhosis, Jaundice OMIM:613471
Lymphatic Malformation 6
Ascites, Splenomegaly, Intestinal lymphangiectasia, Gastroesophageal reflux, Hydrocele testis OMIM:616843
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia, Urethral stricture ORPHA:79403
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Ulnar-Mammary Syndrome
Pyloric stenosis, Imperforate hymen, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Ana... OMIM:181450
Hennekam Syndrome
Pyloric stenosis, Pulmonary lymphangiectasia, Ascites, Lymphadenopathy, Lymphangioma, Malabsorpti... ORPHA:2136
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, B lymphocytopenia, Decreased proportion of naive T cells, Villous atrophy, Lympha... OMIM:619381
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Acute promyelocytic... ORPHA:77293
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, B lymphocytopenia, Hepatomegaly, Cleft palate, Pancreatic hypoplasia, Cholelith... ORPHA:83617
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Congenital pyloric atresia ORPHA:158684
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... OMIM:619472
Williams Syndrome
Rectal prolapse, Abnormal gastric mucosa morphology, Urethral stenosis, Macroglossia, Hypogonadot... ORPHA:904
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700


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 Ranbp17

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 Ranbp17.

No publications found that use IMPC mice or data for Ranbp17.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ranbp17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ranbp17em1(IMPC)Tcp Exon Deletion Mice
Ranbp17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter