Gene Summary

Name:
adenomatosis polyposis coli down-regulated 1
Synonyms:
Drapc1,  EIG180

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Apcdd1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Apcdd1em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Apcdd1em1(IMPC)Mbp HOM   Early adult 5.16×10-07
abnormal skin morphology Apcdd1em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Apcdd1em1(IMPC)Mbp HOM   Early adult 7.71×10-05
abnormal kidney morphology Apcdd1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Apcdd1em1(IMPC)Mbp HOM Early adult 0.00
cataract Apcdd1em1(IMPC)Mbp HOM   Early adult 5.14×10-07

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

37 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Apcdd1 mutations

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

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

The table below shows human diseases associated to Apcdd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis Simplex
ORPHA:55654
Hypotrichosis 1
OMIM:605389

The table below shows human diseases predicted to be associated to Apcdd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Generalized ami... ORPHA:882
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice ORPHA:79238
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Osteopor... ORPHA:100024
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Abnormality of bon... ORPHA:3156
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Hepatomegaly, Jaundice, Epiphyseal stippling OMIM:614876
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Osteopetrosis, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Proteus Syndrome
Lymphangioma, Calvarial hyperostosis, Splenomegaly, Limbal dermoid, Thin bony cortex, Mandibular ... OMIM:176920
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Op... OMIM:611490
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... ORPHA:1473
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Neonatal cholesta... ORPHA:79301
Leber Congenital Amaurosis 1
Hepatomegaly, Pigmentary retinopathy, Optic disc drusen, Keratoconus, Cataract, Hyperthreoninuria OMIM:204000
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract ORPHA:190
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cataract OMIM:613730
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice OMIM:620010
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, Abnormality of the lymphatic... ORPHA:1414
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, R... ORPHA:93296
Sialidosis Type 2
Corneal opacity, Hepatomegaly, Splenomegaly, Nephropathy, Osteoporosis, Ascites ORPHA:87876
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma ORPHA:231736
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Stickler Syndrome Type 2
Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla... ORPHA:290
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Iris hypopigmentati... ORPHA:834
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ... ORPHA:98848
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... OMIM:614866
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... OMIM:612714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata OMIM:193230
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Alpha-Mannosidosis, Adult Form
Corneal opacity, Oligosacchariduria, Osteopenia, Hepatosplenomegaly, Optic disc pallor, Cataract,... ORPHA:309288
Hurler-Scheie Syndrome
Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly ORPHA:93476
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice OMIM:617370
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... ORPHA:79312
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Osteopenia, Rickets, Jaundice, Intrahepati... OMIM:211600
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice OMIM:608885
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... OMIM:617394
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Buphthalmos, Osteopenia, Developmental glaucoma, Cholestasis, Pancrea... OMIM:610199
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Iris hypopigmentation, Pancytopenia, L... ORPHA:79477
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Thymus hyperplasia, ... ORPHA:2969
Multiple Sulfatase Deficiency
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... ORPHA:585
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis OMIM:617913
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Chole... OMIM:615630
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... OMIM:603909
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Stage 5 chronic k... OMIM:268315
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Gaucher Disease Type 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, He... ORPHA:77259
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... OMIM:301078
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Osteolytic defects of the phalanges of the hand, Osteolysis involving... OMIM:228000
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma... OMIM:208540
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolys... ORPHA:100026
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal... OMIM:609049
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Splenomegaly, Craniosynostosis, Osteopetrosis, Opti... OMIM:259700
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... OMIM:120330
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff... ORPHA:91138
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... OMIM:607765
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Dense calvaria, Cardiomegaly OMIM:252920
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone mar... ORPHA:86843
Dent Disease
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Cataract, Proteinuria, Proximal tubulop... ORPHA:1652
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... ORPHA:464329
Stromme Syndrome
Optic nerve hypoplasia, Bilateral renal hypoplasia, Accessory spleen, Microcornea, Peters anomaly... OMIM:243605
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le... OMIM:203780
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... OMIM:618935
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopo... OMIM:259720
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... OMIM:300908
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Autoimmune Hemolytic Anemia
Abnormal urinary color, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Scheie Syndrome
Corneal opacity, Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Essential Thrombocythemia
Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria, Ascites, Epiphyseal stippling ORPHA:584
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Familial Tumoral Calcinosis
Hyperostosis, Nephrocalcinosis, Hepatomegaly, Splenomegaly ORPHA:53715
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat... OMIM:269200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Macular atrophy, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Cranial hyperostosis, Splenomegaly OMIM:612918
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Multiple Sulfatase Deficiency
Corneal opacity, Hepatomegaly, Retinal degeneration, Splenomegaly, Mucopolysacchariduria OMIM:272200
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly, Corneal neovascularization, Punctate keratitis, Hypereosinophilia, Au... OMIM:617388
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation OMIM:613027
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Myelofibrosis, Splenomegaly OMIM:139090
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Splenomegaly, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Ja... ORPHA:90033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia, Osteolysis OMIM:612852
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Lymphaden... ORPHA:169090
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... ORPHA:131
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Anemia, Orotic acid cryst... ORPHA:30
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Chediak-Higashi Syndrome
Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... OMIM:214500
Knobloch Syndrome
Lymphangioma, Macular degeneration, Retinal detachment, Bifid ureter, Cataract, Vesicoureteral re... ORPHA:1571
Porphyria, Congenital Erythropoietic
Cholelithiasis, Corneal scarring, Splenomegaly, Osteopenia, Hemolytic anemia, Osteolysis, Pink ur... OMIM:263700
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Op... OMIM:612301
Cockayne Syndrome Type 3
Corneal ulceration, Hepatomegaly, Retinal degeneration, Splenomegaly, Unilateral renal agenesis, ... ORPHA:90324
Oculoauricular Syndrome
Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... OMIM:612109
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Wilson Disease
Hepatomegaly, Glycosuria, Proteinuria, Portal fibrosis, Jaundice, Renal tubular dysfunction, Neph... OMIM:277900
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly... OMIM:260920
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Multicystic kidney dysplasia, Ureteral duplication, Access... ORPHA:564
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Splenomegaly, Schistocytosis, B lymphocytopenia, Hypochromic microcytic anemia, Si... OMIM:616084
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Pancytopenia, Cardiomegaly OMIM:231005
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevat... OMIM:276700
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Corneal stromal edema, Glycosuria, Cataract, Pro... ORPHA:699
Hardikar Syndrome
Hepatomegaly, Bladder exstrophy, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferatio... OMIM:301068
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... OMIM:611881
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Hepatomegaly, Pancreatitis... ORPHA:171
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Retinal pigment epithelial mottling, Glycosuria,... OMIM:219800
Hepatoerythropoietic Porphyria
Corneal ulceration, Splenomegaly, Osteopenia, Keratoconjunctivitis, Purple urine, Red-brown urine... ORPHA:95159
Isolated Biliary Atresia
Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atret... ORPHA:30391
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Congenital Erythropoietic Porphyria
Corneal ulceration, Splenomegaly, Anisocytosis, Leukopenia, Increased urinary porphobilinogen, Os... ORPHA:79277
Multiple Myeloma
Nephrotic syndrome, Splenomegaly, Osteopenia, Nephropathy, Acute kidney injury, Anemia, Lymphaden... ORPHA:29073
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... ORPHA:567983
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233690
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Norrie Disease
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Anterior cha... ORPHA:649
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... OMIM:619539
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, Microcornea, Iris colob... OMIM:300166
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Hypotrichosis 1
OMIM:605389
Hypotrichosis Simplex
ORPHA:55654

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Apcdd1

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 Apcdd1.

No publications found that use IMPC mice or data for Apcdd1.

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MGI Allele Allele Type Produced
Apcdd1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apcdd1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Apcdd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Apcdd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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