Gene Summary

Name:
NSE1 homolog, SMC5-SMC6 complex component
Synonyms:
2510027N19Rik

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
embryonic lethality prior to tooth bud stage Nsmce1em1(IMPC)Wtsi HOM   E12.5 0.00
embryonic growth retardation Nsmce1em1(IMPC)Wtsi HOM E9.5 0.00
abnormal embryo size Nsmce1em1(IMPC)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Nsmce1em1(IMPC)Wtsi HOM   Early adult 0.00
increased circulating triglyceride level Nsmce1em1(IMPC)Wtsi HET Early adult 6.96×10-08
abnormal spleen morphology Nsmce1em1(IMPC)Wtsi HET Early adult 0.00
enlarged spleen Nsmce1em1(IMPC)Wtsi HET Early adult 0.00
abnormal uterus morphology Nsmce1em1(IMPC)Wtsi HET Early adult 0.00
hydrometra Nsmce1em1(IMPC)Wtsi HET Early adult 0.00
increased circulating total protein level Nsmce1em1(IMPC)Wtsi HET Early adult 2.53×10-05

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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 Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Nsmce1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nsmce1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hypertrig... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... ORPHA:158048
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Increas... OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis ORPHA:75234
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Azoospermia, Splenomegaly, Hepatome... OMIM:615234
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymp... OMIM:603554
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Lymphadenopat... ORPHA:29073
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hepatomegaly, Hypertriglyc... OMIM:610717
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Cholecystitis, Hypercholesterolemia, Inc... ORPHA:90041
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian ins... ORPHA:100025
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Cryptorchidism, Micropenis, Hypocalcemia, Pancreatic lymphan... ORPHA:1655
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancre... ORPHA:435651
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... OMIM:278000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnor... ORPHA:158061
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Hypertri... OMIM:613027
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatome... ORPHA:435660
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Cirrhosis, N... OMIM:214900
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated plasma citrulline, Portal inflammation, Hyperargininemia, Hypertrigly... OMIM:603471
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Temple Syndrome
Cryptorchidism, Decreased testicular size, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Azoospermia, Splenom... OMIM:602390
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Polycystic ovaries, ... ORPHA:528
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jau... OMIM:616860
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Cryptorchidism, Micropenis, Hypocalcemia, Pancreatic lymphangiectasis, Splenomeg... OMIM:235255
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased ... OMIM:604367
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the female genitalia, Hypoproteinemia, Abnormal... ORPHA:2315
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia OMIM:608600
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypoc... ORPHA:90362
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly, Hepatomeg... ORPHA:370
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypoalbuminemia, Hypertriglyceridemia, Lymphopenia, Hypogonadism OMIM:617575
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, Hepatic bridging fibrosi... OMIM:619658
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreat... ORPHA:2348
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Dengue Fever
Hypoproteinemia, Leukopenia, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia, Jaundice OMIM:608093
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hyperuricemia, Hypertriglyceri... ORPHA:79083
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Ascites OMIM:226300
Lcat Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Decreased circul... ORPHA:650
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Hypercholesterolemia, External genital hypoplasia, Hypertriglyceridemia, Ambiguous gen... OMIM:610644
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Cryptorchidism, Hepatomegaly, Hypertriglyceridemia, Hypogonadism OMIM:615381
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia ORPHA:509
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly, Hepatomeg... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circulating creati... ORPHA:79240
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia OMIM:307030
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Hypoplasia of the ovar... ORPHA:66628
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... ORPHA:540
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased testicular size, Hypertriglyceride... ORPHA:179494
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:612653
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Abn... ORPHA:848
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:182900
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:616649
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Increased circ... ORPHA:444490
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Hepatomegaly, Jaundice, Elevated circulating creatine kinase conce... ORPHA:26793
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Abnormal circulating lipid concentrati... ORPHA:79086
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, Hypoplasia of the uterus,... OMIM:614837
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Reduced haptoglobin l... OMIM:613673
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Hypogonadotropic hypogonadism, Azoosp... OMIM:235200
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Hyp... ORPHA:31150
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hepatic fibrosis, Hyperlipidemia, Hepatomegaly OMIM:232400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Ascites, Cryptorchidism, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypom... OMIM:618183
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hypercholesterolemia, Hepatomegaly, La... OMIM:151660
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hyperbiliru... OMIM:607765
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... OMIM:109270
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... OMIM:210250
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea OMIM:235555
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, L... ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Labial hyp... OMIM:608594
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... OMIM:619151
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Cirrhosis, Hep... ORPHA:369
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... OMIM:601847
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreat... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:613327
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Vaginal Atresia
Pelvic mass, Vaginal hematocele, Abdominal mass, Uterus didelphys, Vaginal atresia, Transverse va... ORPHA:65681
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Micropenis, Blind vagina, Aplasia of th... ORPHA:90797
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration ORPHA:85414
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Labial hyp... OMIM:269700
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Hyperuricemia, Chronic active hepatitis, Hypertriglyceridemia, H... OMIM:203800
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Fanconi-Bickel Syndrome
Increased hepatic glycogen content, Hepatomegaly, Hypertriglyceridemia, Hepatocellular carcinoma,... ORPHA:2088
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Abnormal circulating creatine kinase concentration, Hypertriglyc... ORPHA:98907
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Ascites, Cardi... OMIM:269920
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hep... OMIM:615980
Lysinuric Protein Intolerance
Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, ... ORPHA:470
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Immunodeficiency 32B
Splenomegaly OMIM:226990
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrho... OMIM:613812
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Elevated serum 11... OMIM:202010
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:79312
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Hypokalemia, Precocious puberty in females, Micropenis, Decreased circulat... ORPHA:90793
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hyper... ORPHA:275761
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hyperlipidemia, Abnormal circulating lipid concentration, Autoimmune thrombocytop... ORPHA:77293
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegal... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletion of mitochond... OMIM:251880
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypogonadotropic hypogonadism, Hypertriglycer... ORPHA:261476
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Enlarged kidney, Hyperlipidemia, Polycystic ovaries, Hypercholesterolemia, Chr... ORPHA:79259
Smith-Magenis Syndrome
Precocious puberty, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Steatorrhea ORPHA:75233
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Hyponatremia, Increased circulating renin level, Cryptorchidism, Hyperkale... ORPHA:168558
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Macrocytic anemia, Hyperalaninemia OMIM:619046
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Hyponatremia, Increased circulating renin level, Cryptorchidism, Hyperkale... ORPHA:289548
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
46,Xy Sex Reversal 4
Hypoplastic labia majora, Elevated circulating creatinine concentration, Increased blood urea nit... OMIM:154230
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration OMIM:205400
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cardiomegaly, Hypogonadotropic hypogonadism, Portal... ORPHA:465508
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Hypokalemia, Cholestasis, Ascites, Autoimmune hemolytic anemia, Decreased CD4:... OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Accessory spleen, Hepatopulmonary fusion, Cryptorchidism, Micropenis, Bifi... OMIM:618280
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the o... OMIM:615300
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentrat... OMIM:256040
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Mcleod Syndrome
Splenomegaly, Hepatomegaly, Acanthocytosis, Elevated circulating creatine kinase concentration, R... OMIM:300842
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Abnormal circulating creati... ORPHA:98908
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycyst... ORPHA:91
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Elevated circulating ... OMIM:617388
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypocalcemic seizures, Septate vagina, Uterus didelphys, Hypocalcemia, Vag... ORPHA:2237
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating ino... OMIM:613179
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Hypoplasia of the fallopian tube, Prem... OMIM:241080
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Abnormal circula... OMIM:607625
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Splenomegaly, Jaundice, Increased to... ORPHA:2137
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Cryptorchidism, Abnormal circulating corticosterone... ORPHA:90796
Oculoskeletodental Syndrome
Hypercalcemia, Cryptorchidism, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:618440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Precocious puberty ORPHA:369837
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the intrahepatic bile duct ORPHA:363618
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Aplasia of the vagina, Septate vagina OMIM:146255
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Hypertriglyceridemia ORPHA:536532
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Hyponatremia, Precocious puberty in females... ORPHA:90794
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Familial Mediterranean Fever
Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly, Elevated circulati... OMIM:249100
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Micropenis, Azoospermia, Non-... ORPHA:432
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Juvenile Polyposis Syndrome
Hypoproteinemia, Extrahepatic portal hypertension, Hepatic arteriovenous malformation, Anemia, Re... ORPHA:2929
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Atretic gallbladder, Splenomegaly, Hep... ORPHA:30391
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Cholestasis,... OMIM:300972
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Pancreatic islet-cell hyperplasia, Splenomegaly, Hep... OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Portal hypertension, Decreased circulating ferritin concentration, Sple... ORPHA:309854
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Micropenis, Abnormal spermatogenesis, Hypoplasia of the... ORPHA:3464
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Precocious puberty, Hypospadias ORPHA:254346
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration OMIM:612852
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Cholestasis, Hypercholesterolemia, Reduced number of intrahepa... OMIM:118450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcar... ORPHA:228308
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Elevated circulating creatine... ORPHA:565612
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:157
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... ORPHA:77259
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Epididymal cyst, Elevated circulating creatinine concentration... OMIM:137920
Pierson Syndrome
Hypoproteinemia OMIM:609049
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Hepatomegaly, Elevated hemoglobin A1c, Hypertriglyceridemia, Macrov... OMIM:619127
Microphthalmia, Syndromic 9
Hypoplastic spleen, Cryptorchidism, Bicornuate uterus, Multilobulated spleen, Hypoplasia of the u... OMIM:601186
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Neutropenia, Xanthelasma, Pancreati... OMIM:232220
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Splenomegaly, Hypoplasia of penis, Sp... ORPHA:251066
Mastocytosis
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Pancreatitis, Hepatoce... OMIM:232200
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Micropenis, Ambiguous genitalia, female, Absent scrotum, Ve... OMIM:258040
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Atypical Werner Syndrome
Hepatic steatosis, Ovarian neoplasm, Hypertriglyceridemia, Abnormal testis morphology, Premature ... ORPHA:79474
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Absent external genitalia, Urethral atresia OMIM:271520
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Aplasia of the uterus, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Anemia, ... OMIM:274000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Splenomegaly, ... OMIM:602782
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Meckel Syndrome, Type 1
Accessory spleen, Bile duct proliferation, Cryptorchidism, Splenomegaly, Ambiguous genitalia, fem... OMIM:249000
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Leukopenia, Hemophagocytosis, Intraalveolar phospho... OMIM:222700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiocarcinoma, Abnorma... ORPHA:171
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Long penis, Hypospadias, Hypertriglyceridemia OMIM:264090
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Ascites ORPHA:567546
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiti... ORPHA:731
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Primary Pigmented Nodular Adrenocortical Disease