Gene Summary

endoplasmic reticulum aminopeptidase 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Erap1tm2b(EUCOMM)Wtsi HOM Late adult 8.67×10-05
hyperactivity Erap1tm2b(EUCOMM)Wtsi HOM Late adult 6.60×10-07
increased lean body mass Erap1tm2b(EUCOMM)Wtsi HOM Late adult 8.04×10-07
abnormal liver morphology Erap1tm2b(EUCOMM)Wtsi HOM Late adult 0.00
decreased bone mineral content Erap1tm2b(EUCOMM)Wtsi HOM Early adult 1.52×10-06
decreased circulating serum albumin level Erap1tm2b(EUCOMM)Wtsi HOM Late adult 1.81×10-05
decreased total body fat amount Erap1tm2b(EUCOMM)Wtsi HOM Late adult 3.14×10-05

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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Erap1 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 Erap1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Behçet Disease
Orchitis, Splenomegaly, Pancreatitis, Glomerulopathy, Lymphadenopathy, Renal insufficiency ORPHA:117

The table below shows human diseases predicted to be associated to Erap1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections, Abnor... OMIM:308220
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Recurrent gastroenteritis, Defective T ... OMIM:615615
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Failure to thrive, Elev... OMIM:617156
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Recurrent viral i... OMIM:615897
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating alanine aminotra... OMIM:619658
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Hypercalcemia OMIM:240150
Hypercalcemia ORPHA:55881
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, General... OMIM:612526
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Aa Amyloidosis
Adrenal insufficiency, Enlarged kidney, Hypothyroidism, Nephrotic syndrome, Cholestasis, Proteinu... ORPHA:85445
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive ORPHA:172
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jaundice, Erythro... ORPHA:231222
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis OMIM:602579
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 8
Hyperactivity OMIM:615401
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:615234
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Renal Dysplasia
Pelvic mass, Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic... ORPHA:93108
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Lymp... OMIM:618495
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated... ORPHA:247585
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Pancreatitis, Hypermagnesemia OMIM:145981
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, Hypoalbuminemia, ... ORPHA:79319
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia ORPHA:2123
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Abnormality of the liver, Jaundice, Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol... ORPHA:79320
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Hypercalcemia ORPHA:69077
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Decreased liver function, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Camptoda... OMIM:608104
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... ORPHA:730
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Abnormal spleen physiology, Hypophosphatemia, Hypoalbuminemia, Ele... ORPHA:398063
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Flexion contracture, Portal hypertension, Hepatosplenomegaly, Decreased liver fu... ORPHA:367
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... ORPHA:158061
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Osteopetrosis, Autosomal Recessive 3
Anemia, Distal renal tubular acidosis, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Weight loss ORPHA:507
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia OMIM:209950
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hyponatremia, Abnormality of the liver,... ORPHA:1667
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Renal cyst, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolong... ORPHA:79303
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria, Spleno... OMIM:617303
Hypercalcemia, Failure to thrive in infancy ORPHA:436
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Abnormality of the liver, Hypermethioninemia, Elevated circulating creatine ... ORPHA:88618
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Pancreatitis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Elevated hepatic transaminase, Hypercalcemia ORPHA:284426
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Pancrea... ORPHA:405
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia, Splenomegaly, Hepatomegaly, Elbow flexion... OMIM:618440
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Pancreatitis OMIM:145980
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Red urine, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Increased urine hardero... OMIM:618892
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia, Neoplasm of the pancreas ORPHA:2591
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Pancreatic islet... OMIM:276700
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia, Enamel hypoplasia ORPHA:557003
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... OMIM:603553
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Ascites, Splenomegaly, Hypoplasia of penis, Anemia, Renal hypoplasia/a... ORPHA:1046
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Ab... OMIM:259720
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Abnormal circulating lipid concentration... ORPHA:186
Decreased liver function, Hypoalbuminemia ORPHA:79327
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Hyponatremia, Portal hypertension, Hypercalcemia, Hepatome... ORPHA:88673
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Recurrent viral infections, Decreased CD69 u... OMIM:300853
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Hepatomegaly, Failure to thrive, Calcinosis, Hypophosphatemia OMIM:239200
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... OMIM:615559
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Peritoneal effusion, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Ascites, Hepatomegaly, Pancreatic fibrosis, Polysplenia,... OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack o... ORPHA:277
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... ORPHA:540
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Delayed puberty, Proteinuria, Macroscopic hematuria, Membranoproliferative glome... ORPHA:251004
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Hepatomegaly, Abnormal subcutaneous fat tissue distributi... OMIM:212065
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Agammaglobulinemia, Rec... OMIM:209920
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Cholelithiasis, Subcutaneous lipoma, Hypercalcemia, Hepatomegaly, Extrahepatic cholestasis, Intra... ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Abnormality of... ORPHA:168569
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Membranous nephropathy, Renal... ORPHA:449395
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia ORPHA:2070
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepatic transamina... OMIM:618329
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Immunodeficiency 32B
Splenomegaly OMIM:226990
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Weight loss, Hypercalcemia ORPHA:97289
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Fai... OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Trichohepatoenteric Syndrome 1
Hepatic failure, Abnormality of the pancreas, Small for gestational age, Cholestasis, Hypermethio... OMIM:222470
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Subcutaneous lipoma, Hypokalemia, Hypercalcemia, Hepatomegaly, Neoplasm of the liver, Extrahepati... ORPHA:97282
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Elevated hep... OMIM:610965
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Lipid accumulation in hepatocytes, Hepatom... OMIM:608836
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Hepatitis, Hypoalbuminemia, Hyperammonemia ORPHA:292
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hip contracture, Hypercalcemia, Knee flexion contracture OMIM:156400
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Subcutaneous lipoma, Hypercalcemia, Gallbladder dysfunction, Hepatomegaly, Extrahepatic cholestas... ORPHA:97283
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Hemoglobinuria, Pro... OMIM:300908
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Reduced intraabdominal adipose tissue, Hyperactivity, Generalized lipodystroph... ORPHA:363400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent viral infections, Lack of T cell function, ... ORPHA:572
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lobulation, Nephroblast... OMIM:608022
Bacterial Toxic-Shock Syndrome
Cellulitis, Elevated circulating creatinine concentration, Peritonitis, Hypocalcemia, Elevated ci... ORPHA:36234
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Cholelithiasis, Subcutaneous lipoma, Hypercalcemia, Hepatomegaly, Extrahepatic cholestasis, Intra... ORPHA:97261
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Weight loss, Hypoalbuminemia, Liver abscess ORPHA:67
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Pancreatic adenocarcinoma, Pan... ORPHA:143
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Failure to thrive, Hepatitis, Weight loss ORPHA:199299
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Adrenal calcification ORPHA:75234
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Hepatomegaly, Impaired lymphocyte transformation wit... OMIM:300400
Hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Fa... ORPHA:14
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Monosomy 13Q34
Infantile hypercalcemia, Obesity, Hepatic steatosis ORPHA:96168
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Leukopenia, Bone marrow hypocellularity, Proteinuria, Nephro... ORPHA:505248
Splenomegaly, Hepatomegaly, Hypercalcemia ORPHA:98292
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adren... ORPHA:75233
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... ORPHA:276280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatic steatosis, Hypothyroidism, Nephrocalcinosis, Delayed puberty, Polycystic... ORPHA:79259
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Decr... ORPHA:89842
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Proteus Syndrome
Renal cyst, Diabetes insipidus, Lymphangioma, Testicular neoplasm, Splenomegaly, Long penis, Ovar... ORPHA:744
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia, Splenomegaly, Hepat... ORPHA:37042
Enlarged kidney, Cryptorchidism, Micropenis, Adrenal hypoplasia, Hyperechogenic kidneys, Micropha... OMIM:612651
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Pancreatic adenocarcinoma, Pan... ORPHA:99880
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insufficiency, Thromboc... ORPHA:108
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Adrenoc... OMIM:130650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Small for gestational age, Slender build, Cholestasis, Bi... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Zollinger-Ellison Syndrome
Multiple lipomas, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Lipoma, Weight loss ORPHA:913
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Hydronephrosis, Splenomegaly, Hepatomegaly, Neutropenia,... OMIM:612541
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia, Fail... ORPHA:95409
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Subcutaneous lipoma, Hypercalcemia, Hepatomegaly, Extrahepatic cholestasis, Intrahepatic cholesta... ORPHA:97280
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Hyperproteinemia, Wei... ORPHA:29073
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Thrombocytopenia ORPHA:79312
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Small for gestational age, Hypochloremia, Increased circulating renin level, Hyperca... OMIM:601678
Al Amyloidosis
Abnormality of the liver, Hepatomegaly, Hypoalbuminemia, Increased circulating NT-proBNP concentr... ORPHA:85443
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly ORPHA:79128
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:235510
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia OMIM:131100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Hemochromatosis, Type 2A
Cirrhosis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly OMIM:602390
X-Linked Agammaglobulinemia
Cellulitis, Hypocalcemia, Failure to thrive, Hepatitis, Weight loss ORPHA:47
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Hyponatremia, Abnormal adipose tissue morphology, Failure to thrive, Elevated hepatic transaminas... ORPHA:79324
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Overweight, Jaun... ORPHA:26793
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Hypothyroidism, Adrenocortical carcinoma, Cryp... ORPHA:116
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Myeloproliferative disorder, Splenomegaly OMIM:254450
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Hyperactivity, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Attention deficit hyperacti... OMIM:261600
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Hypoalbuminemia, Small for... OMIM:619055
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Hypoalbuminemia, Hiatus hernia OMIM:617729
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Hyperactivity, Knee flexion contracture, Inguinal hernia, Elevated circulati... OMIM:616809
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Nephrotic syndrome, S... ORPHA:39041
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Abnormal circulating lipid concentration, Hypotriglycer... ORPHA:2298
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Elevated hepatic ... ORPHA:99845
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Partial Ig... ORPHA:35078
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia, Fail... ORPHA:85138
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurren... OMIM:618935
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Mevalonic Aciduria
Splenomegaly ORPHA:29
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Splenomegaly, Anemia, Aminoaciduria, Orotic acid cryst... ORPHA:30
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia ORPHA:29072
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, H... OMIM:278000
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Hypercalcemia, Extrahepatic cholestasis, Insulinoma, Abnormality of pancreas... ORPHA:276152
Galloway-Mowat Syndrome 1
Hiatus hernia, Small for gestational age, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Enlarged kidney, Ureteral hypoplasia, Periportal fibrosis, Hydronephrosis, Hepatomegaly, Hypoplas... ORPHA:79328
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Cachexia OMIM:175500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Failure to thrive, Hypoalbuminemia, Scarring, Atrophic scars ORPHA:79396
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Gl... ORPHA:91138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Abnormality of B cell physi... OMIM:600802
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hepatic failure, Hypocalcemia, Splenomegaly, Hepatomegaly, Pancreatic lymphangie... OMIM:235255
Tarp Syndrome
Cryptorchidism, Hydronephrosis, Horseshoe kidney, Extramedullary hematopoiesis ORPHA:2886
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia, Type I diabetes mellitus ORPHA:290
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Timothy Syndrome
Hypocalcemia OMIM:601005
Gracile Bone Dysplasia