Gene Summary

Name:
DDB1 and CUL4 associated factor 8
Synonyms:
H326,  D1Ucla4,  D1Dau35e,  Wdr42a

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 Dcaf8em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Dcaf8em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Dcaf8em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Dcaf8em1(IMPC)Ccpcz HOM Early adult 6.42×10-05
increased circulating potassium level Dcaf8em1(IMPC)Ccpcz HOM Early adult 2.00×10-05
abnormal liver morphology Dcaf8em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Dcaf8em1(IMPC)Ccpcz HOM Early adult 0.00
increased lung compliance Dcaf8em1(IMPC)Ccpcz HOM   Early adult 6.69×10-06
decreased lung elastance Dcaf8em1(IMPC)Ccpcz HOM   Early adult 2.37×10-05
increased blood urea nitrogen level Dcaf8em1(IMPC)Ccpcz HOM Early adult 7.74×10-05
abnormal inspiratory capacity Dcaf8em1(IMPC)Ccpcz HOM   Early adult 4.27×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Dcaf8 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 Dcaf8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100

The table below shows human diseases predicted to be associated to Dcaf8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... OMIM:613313
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase co... OMIM:600649
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Anemia, I... ORPHA:231111
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Depression OMIM:602079
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Respiratory insufficiency, Splenomegaly ORPHA:139406
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Pneumonia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Respiratory insuffici... ORPHA:848
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Elevated hepatic transaminase, Dyspnea ORPHA:75563
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Elevated hepatic transaminase, Myocardial fibrosis, Bone marrow ... ORPHA:210136
Coproporphyria, Hereditary
Hepatomegaly, Respiratory paralysis, Splenomegaly, Anxiety, Depression, Jaundice OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopat... OMIM:235200
Nephronophthisis 2
Hyperkalemia, Respiratory insufficiency, Situs inversus totalis, Elevated circulating creatinine ... OMIM:602088
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Exertional dyspnea, Cholestasis, P... ORPHA:615
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Wheezing, Cholelithiasis, Cough, Recurrent tonsillitis, Increased cir... ORPHA:171876
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroe... OMIM:212140
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhos... OMIM:602390
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, El... OMIM:619064
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Elevated ... OMIM:201475
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Cough, Splenomegaly, Dyspnea ORPHA:98293
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Immunodeficiency 52
Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hem... OMIM:617514
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Gaucher Disease Type 2
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress ORPHA:77260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Apnea OMIM:240200
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Anemia,... OMIM:209950
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Conjugated hyperbiliru... OMIM:269920
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypert... ORPHA:2414
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Respiratory insufficiency, Reduced vital capacity OMIM:618654
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Elevated hepatic transaminase, Thro... ORPHA:858
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Babesiosis
Hepatomegaly, Respiratory insufficiency, Leukopenia, Cough, Splenomegaly, Hepatic failure, Thromb... ORPHA:108
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Hyperammonemia, Re... ORPHA:79312
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart ... ORPHA:93476
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 1
Wheezing, Hepatomegaly, Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholesta... OMIM:211600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Immunodeficiency 32B
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly OMIM:226990
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Pseudo-Torch Syndrome 3
Leukocytosis, Respiratory insufficiency, Lymphadenitis, Apnea, Cardiomegaly, Anemia, Increased ci... OMIM:618886
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Abnormality of the lymph... ORPHA:1414
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Uremic Pruritus
Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypermagnesemia, Depression ORPHA:94059
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Respiratory insufficiency, Elevated hepatic transaminase, Splenomegaly, Hepatosplen... OMIM:610333
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Pleura... ORPHA:545
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Portal hypertension, Dec... OMIM:278000
Glycogen Storage Disease Ii
Hepatomegaly, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Resp... OMIM:232300
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protei... ORPHA:85414
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Abnormal ci... ORPHA:829
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent for... OMIM:601005
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T lymphocytop... OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Hypoxemia, Pericardial effusion, Right ventricular hypertrophy, Tachypnea, Cardiome... ORPHA:555874
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Restrictive ventilatory defect, Crackles, Iron deficiency anemia, Cardiomegaly, Cou... ORPHA:99931
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Card... ORPHA:465508
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased ... OMIM:613011
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Respiratory insufficiency, Hypokalemia, Elevated circulating creatine... ORPHA:682
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Epistaxis, Nodular regenerative hyperplasia of l... OMIM:619463
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Mcleod Syndrome
Dilated cardiomyopathy, Acanthocytosis, Elevated circulating creatine kinase concentration, Cardi... OMIM:300842
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Ascites, Vacuolat... ORPHA:275761
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hypoxemia, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... OMIM:603903
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Farber Lipogranulomatosis
Hepatomegaly, Respiratory insufficiency, Splenomegaly, Lipogranulomatosis, Irritability OMIM:228000
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Hypoxemia, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral va... ORPHA:860
Priapism, Familial Idiopathic
Priapism OMIM:176620
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Rhinitis, Anemia, Splen... ORPHA:507
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Tachypnea, Hypercapnia, Elevated creatine kinase after exercise, Cardiomyocyte mito... ORPHA:423
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Thrombocytopenia, Hypernatremia, Elevat... ORPHA:94093
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Anisoc... OMIM:618278
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Pneumonia, Lymphadenopathy, Hypoplasia of the t... OMIM:603554
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Ascites, Increased circulating galectin-3 level, Cardiomeg... ORPHA:57777
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Hypocholestero... OMIM:607765
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Res... OMIM:608836
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegaly, Autoimmune thrombocyt... OMIM:300853
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Wilson Disease
Hepatomegaly, Aggressive behavior, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, H... ORPHA:905
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Splenomegal... OMIM:618534
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Cardiomyopat... OMIM:256550
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Emotional labi... OMIM:223900
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... ORPHA:231222
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney ORPHA:251004
Immunodeficiency 54
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer ce... OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, D... ORPHA:230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Classic Hodgkin Lymphoma
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellularity, Cough, Spl... ORPHA:391
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... OMIM:612387
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Mirage Syndrome
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Lymphopenia, Aspiration pneumonia, Thrombocytopen... OMIM:617053
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Splenomegaly, Hepatic failure, I... OMIM:235555
Immunodeficiency, Common Variable, 2
Hepatomegaly, Bronchiectasis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Recurrent sinus... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Increased hepatic glycogen conte... OMIM:614921
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Depression OMIM:231000
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Irritability, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Gaucher Disease, Type Ii
Hepatomegaly, Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Hypokale... OMIM:615474
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Asthma, Exocrine pancreatic insu... OMIM:612714
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Elevated circulating creati... ORPHA:308552
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Respiratory insufficiency, Endocarditis, Lymphadenopathy... ORPHA:549
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Respiratory insufficiency, Ascites, Splenomegaly ORPHA:1046
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... ORPHA:2137
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hepatic fibrosis, Hypochromic microcytic... ORPHA:231226
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Neonatal respiratory distre... ORPHA:228308
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia, Pa... OMIM:615122
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly OMIM:615846
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumoni... OMIM:604173
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... ORPHA:79477
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hepat... ORPHA:231214
Caspase 8 Deficiency
Pneumonia, Lymphadenopathy, Splenomegaly, Asthma, Decreased CD4:CD8 ratio OMIM:607271
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Tachypnea, Abnormal ... ORPHA:2041
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Exertional dyspnea, Increased hematocrit, Increased ... OMIM:133100
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Splenomegaly, Hypersplenism, Progressive pulmonary function impairment, Decreased... ORPHA:77293
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Sialidosis Type 2
Hepatomegaly, Dyspnea, Ascites, Splenomegaly ORPHA:87876
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Elevated hepatic transaminase, Hyper... ORPHA:99845
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Splenome... OMIM:150550
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cough, Cardiomyopathy, Splenomegaly, Dyspnea ORPHA:3386
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Hepatocellular Carcinoma
Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Jaundice, Liver abscess, ... ORPHA:88673
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Elevated hepatic transaminase, Lymphaden... OMIM:603553
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Resp... OMIM:259720
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Hepatomegaly, Irritability, Splenomegaly OMIM:201100
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Myocardial fibrosis OMIM:253250
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomegaly, Hypersplenism, Pa... OMIM:230800
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Cardiomyopathy, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased seru... OMIM:619046
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Complete Atrioventricular Septal Defect
Wheezing, Hepatomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Crac... ORPHA:1329
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Cough, Splenomegaly, Abnormal heart... ORPHA:36412
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonary arterial hypertension, Pulmonic stenosis, Splenomegaly, ... OMIM:616028
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Anemia, Increased blood urea nitrogen ORPHA:90321
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... ORPHA:330015
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... ORPHA:447
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Apnea, Cardiomegaly, Anemia, Apathy, Splenomegaly, Respiratory distress, H... OMIM:608013
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Abnormal heart ... ORPHA:398124
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Colchicine Poisoning
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Respirato... ORPHA:31824
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Respiratory insufficiency, Leukopenia, Monocytosis, Hypoplasia of the ... OMIM:612541
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... OMIM:616651
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentration, Hep... ORPHA:381
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hypercalcemia, Calcinosis, Tachypnea, Anemia, Hypophosphatemia, Splenomegaly, Dyspnea OMIM:239200
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Anemia, Increas... OMIM:619377
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Pulmonary art... ORPHA:77259
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Pneumonia, Lymph node hypoplasia, Neutropenia in presence of anti-neutro... OMIM:613179
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Elevated circulating C-reactive protein concentration, Hemolytic anemia, ... OMIM:619573
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Cardiomegaly, Hypertrophic cardiomyopathy, Hyperammonemia ORPHA:391428
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbi... ORPHA:288
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Pneumonia, Jaundice ORPHA:90790
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Respiratory insufficiency, Abnormal circulating cholesterol concentr... OMIM:607625
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Whipple Disease
Myocarditis, Hepatomegaly, Hyponatremia, Mediastinal lymphadenopathy, Respiratory insufficiency, ... ORPHA:3452
Autoimmune Hemolytic Anemia
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... ORPHA:290
Scrub Typhus
Myocarditis, Lymphadenopathy, Cough, Splenomegaly, Restrictive ventilatory defect, Dyspnea ORPHA:83317
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Ethylene Glycol Poisoning
Hyperkalemia, Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Euphoria... ORPHA:31826
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... ORPHA:95430
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly OMIM:205400
Mastocytosis
Hepatomegaly, Hypercalcemia, Respiratory insufficiency, Acute leukemia, Chronic leukemia, Cough, ... ORPHA:98292
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Pneumonia, Endocarditis, Lymphaden... ORPHA:781
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Leukocytosis, Hyponatremia, Myocarditis, Pneumonia, Pancreatitis, Pleural empyema, ... ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Pneumonia, Elevated hepatic transaminase, Elevated circulating creati... ORPHA:340
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cardiomegaly, Atrial septal defect, Right atrial enlargement, Muscular ventricular sep... ORPHA:439
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegal... ORPHA:822
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Typhoid
Hepatomegaly, Epistaxis, Cough, Splenomegaly ORPHA:99745
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Mogs-Cdg
Hepatomegaly, Apnea, Cardiomegaly, Left ventricular hypertrophy, Respiratory distress, Hepatosple... ORPHA:79330
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Rhinitis, Abnormal lymphocyt... ORPHA:47612
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Lymphadeno... OMIM:602782
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Anemia, Splenomegaly, Elevated circulating aspartate aminotra... OMIM:170100
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Epistaxis, Hypokalemia ORPHA:251274
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid OMIM:266500
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting OMIM:618314
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic fai... OMIM:615630
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Neonatal asphyxia, Hyponatremia ORPHA:90791
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Crackles, Elevated circulating creatine kinase concentration, Tachypnea, Decreased ... ORPHA:466650
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Recur... OMIM:618935
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Exertional dyspnea, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Hypertyrosinemia, S... OMIM:276700
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatos... ORPHA:79083
Myopathy With Extrapyramidal Signs
Leukocytosis, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase conce... OMIM:615673
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Patent foramen ovale OMIM:618652
Beck-Fahrner Syndrome
Anxiety, Ventricular septal defect, Cardiomegaly, Depression OMIM:618798
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Elevated hepatic transaminase, Elevated circulating crea... OMIM:614576
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Por... ORPHA:171
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased circulating ferritin concentration, Polycyth... ORPHA:309854
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Incr... ORPHA:540
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Aorta Coarctation
Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranous ventricular ... ORPHA:1457
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Bronchiectasis, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphop... OMIM:616100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy ORPHA:361
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Hyperlipidemia, Coronary artery stenosis, Elevated circulating creatine kinase conc... ORPHA:565612
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Liddle Syndrome 3
Hypokalemia OMIM:618126
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Depression, Increased hepatic glycogen content OMIM:619259
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Pearson Syndrome
Neutropenia, Hypophosphatemia, Splenomegaly, Pancytopenia, Bone marrow hypocellularity, Hepatic s... ORPHA:699
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Lymphopenia, Splenomegaly OMIM:616005
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Increased circulatin... ORPHA:95409
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Mucopolysaccharidosis-Plus Syndrome