Gene Summary

Name:
complement factor D
Synonyms:
D component (adipsin) of complement,  factor D,  Adn,  DF

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 adrenal gland morphology Cfdem1(IMPC)Mbp HOM Early adult 0.00
small adrenal glands Cfdem1(IMPC)Mbp HOM Early adult 0.00
abnormal caudal vertebrae morphology Cfdem1(IMPC)Mbp HOM   Early adult 1.19×10-06
small kidney Cfdem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Cfdem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cfdem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Cfdem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cfd 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 Cfd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:606843
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:240500
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Wolman Disease
Adrenal calcification, Hepatomegaly, Splenomegaly OMIM:620151
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... ORPHA:276
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Gl... ORPHA:251274
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:1802
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul... OMIM:243700
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Partial absence of specific antibody... OMIM:620632
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice OMIM:620010
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... ORPHA:231580
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Wolman Disease
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-m... ORPHA:75233
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Thrombocyto... ORPHA:96181
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Kyphosis, Splenomegaly, Hepatomegaly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Abnormal circulating IgM... OMIM:308230
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Spinal can... ORPHA:93476
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain ORPHA:56425
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... OMIM:202010
Immunodeficiency 12
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... OMIM:615468
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Recu... OMIM:618048
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... OMIM:116920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, De... ORPHA:331206
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:612526
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Cryptorchidism, Ad... ORPHA:95699
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Kaposiform Lymphangiomatosis
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Abnormal t... ORPHA:464329
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel... OMIM:606367
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Po... OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Platyspondyly, Cholestasis, Hepatic steatosis, Splenomegaly, Hypoplast... OMIM:618641
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... OMIM:602557
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Aredyld Syndrome
Type I diabetes mellitus, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Hep... ORPHA:1133
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eosinophilia,... ORPHA:39041
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Adrenal gland agenesis OMIM:273395
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Sc... OMIM:252900
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... ORPHA:221139
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hydrolethalus Syndrome 1
Hydronephrosis, Adrenal gland dysgenesis, Hypospadias, Accessory spleen OMIM:236680
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Ascites, Splenomegaly, Short neck, Mucop... ORPHA:584
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Increa... ORPHA:443811
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ... ORPHA:86843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Vertebral comp... OMIM:230800
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Recurrent fungal infections, Increas... OMIM:620565
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy... OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Autoimmune Hepatitis
Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Glomerulonephritis, He... ORPHA:2137
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Chronic oral candidi... OMIM:608233
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Congenital hypothyroidism, A... ORPHA:79500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Splenomegaly, A... OMIM:239200
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Scoliosis, Splenomegaly OMIM:612918
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Recurrent bacterial inf... OMIM:300972
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Ch├ędiak-Higashi Syndrome
Recurrent streptococcal infections, Abnormality of neutrophil physiology, Recurrent respiratory i... ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Vici Syndrome
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, D... OMIM:242840
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre... OMIM:612541
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg... OMIM:276700
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections... OMIM:214500
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Porphyria, Congenital Erythropoietic
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u... OMIM:263700
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone resp... OMIM:301068
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome, Vert... ORPHA:29073
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Severe cytomegalovirus infection, Recurrent fungal infections... OMIM:619573
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis, Recurrent urinary tract infe... ORPHA:2968
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Impaired neutrophil chemotaxis, Recurrent viral infections, Sepsis ORPHA:811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased circulating antibody level, Increased circulating antib... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Cfd

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 Cfd.

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

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MGI Allele Allele Type Produced
Cfdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Cfdem1(IMPC)Mbp Intra-exon deletion Mice

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