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Gene: Erap1 MGI:1933403

Gene Summary

Name:

endoplasmic reticulum aminopeptidase 1

Synonyms:

ERAAP, PILSAP, Arts1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
hyperactivity	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	1.41×10^-06
decreased circulating serum albumin level	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	6.17×10^-09
decreased bone mineral content	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	1.40×10^-05
increased lean body mass	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	7.20×10^-07
abnormal liver morphology	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	0.00
increased circulating calcium level	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	8.67×10^-05
decreased total body fat amount	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Late adult	6.88×10^-05
thrombocytosis	Erap1^{tm2b(EUCOMM)Wtsi}	HOM	Early adult	2.52×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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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.

Human diseases associated with Erap1 (1 diseases)
Human diseases predicted to be associated with Erap1 (706 diseases)

The table below shows human diseases associated to Erap1 by orthology or direct annotation.

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

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

Disease	Matching phenotypes	Source
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul...	OMIM:619902
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:620357
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM ...	OMIM:613752
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Adamantinoma	Hypercalcemia	ORPHA:55881
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity	ORPHA:356996
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutaneous adipose tissue,...	OMIM:612526
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Schizophrenia 15	Hyperactivity	OMIM:613950
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Adrenal...	ORPHA:85445
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat...	OMIM:618805
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:94086
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis	OMIM:604416
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Pancreatitis, Hypercalcemia	OMIM:145981
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci...	ORPHA:90301
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia	ORPHA:2123
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi...	ORPHA:79319
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Decreased LDL cholesterol concentra...	ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight	OMIM:618347
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Failure to thrive	OMIM:239199
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal...	OMIM:208540
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Hypercalcemia	ORPHA:69077
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:242150
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo...	ORPHA:507
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Refractory Celiac Disease	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma...	ORPHA:398063
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur...	ORPHA:367
Immunodeficiency 11A	Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level, Reduc...	OMIM:615206
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Splenomegaly, E...	OMIM:616050
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Enamel hypoplasia	OMIM:618349
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hepatomegaly	OMIM:602579
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 18	Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente...	OMIM:615615
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Dark urine, Hepatic steatosis, P...	ORPHA:79303
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Familial Isolated Hyperparathyroidism	Chondrocalcinosis, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c...	OMIM:608104
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Hyperparathyroidism, Neonatal Severe	Polydipsia, Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercal...	OMIM:239200
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation	OMIM:614493
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hypercalcemia	OMIM:600740
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly	OMIM:608776
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated circulating hepatic transaminase concentration, Hypercalcemia, Elevated creatine kinase ...	ORPHA:284426
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:88618
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypocalcemia, Splenomegaly, Hepatomegaly, Hypercalcemia, Small for ges...	OMIM:618440
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Wolman Disease	Hepatomegaly, Adrenal calcification, Splenomegaly	OMIM:620151
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leukopenia, Splenomeg...	OMIM:617303
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hyperprolinemia, Type I	Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypercalcemia	OMIM:145980
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Enamel hypoplasia	ORPHA:557003
Glycine Encephalopathy 1	Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Immunodeficiency 32B	Hypoalbuminemia, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:226990
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Infantile Myofibromatosis	Chondrocalcinosis, Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Hepatic failure, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive pro...	OMIM:308240
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr...	OMIM:603553
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit...	OMIM:300853
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Hypocalcemia, ...	ORPHA:247353
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Weight loss, Dysphagia, Hypoalbuminemia	ORPHA:2070
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anem...	OMIM:615234
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive, Anorexia	OMIM:241500
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia, Anorexia	ORPHA:2494
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:607594
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Pancreatitis, Lipoma, Hypocalcemic se...	ORPHA:405
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Hemochromatosis, Type 2B	Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperac...	ORPHA:476126
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I...	OMIM:231095
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Polyphagia, Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia	ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Subcutaneous lipoma, Neoplasm of the pancreas, Intermit...	ORPHA:97278
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg...	OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Vipoma	Intrahepatic cholestasis, Subcutaneous lipoma, Neoplasm of the pancreas, Intermittent jaundice, H...	ORPHA:97282
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Polydipsia	OMIM:617994
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Weight loss, Hypercalcemia	ORPHA:97289
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:619487
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Somatostatinoma	Intrahepatic cholestasis, Subcutaneous lipoma, Neoplasm of the pancreas, Intermittent jaundice, G...	ORPHA:97283
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Late-Onset Isolated Acth Deficiency	Failure to thrive, Hepatitis, Hyperuricemia, Hyponatremia, Weight loss, Anorexia, Hypercalcemia	ORPHA:199299
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre...	ORPHA:277
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529808
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R...	OMIM:613673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis, Enamel hypoplasia	OMIM:211900
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Abno...	ORPHA:449395
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Hypogonadism, Delayed puberty, ...	ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:618329
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:171
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive	ORPHA:163693
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Corn...	OMIM:610965
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Subcutaneous lipoma, Neoplasm of the pancreas, Intermit...	ORPHA:97261
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy...	ORPHA:848
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c...	ORPHA:89842
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Monosomy 13Q34	Obesity, Hypercalcemia, Hepatic steatosis	ORPHA:96168
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis	ORPHA:729
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Thrombocytosis	OMIM:226300
Acute Adrenal Insufficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Salt craving, Weight loss, Anorexia, Hyperkalemia...	ORPHA:95409
Parathyroid Carcinoma	Chondrocalcinosis, Polydipsia, Pancreatic adenocarcinoma, Hypophosphatemia, Weight loss, Dysphagi...	ORPHA:143
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega...	ORPHA:2905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal insufficiency, Lipid accumulation in hepatocytes, Cardiomegaly, Hydronephrosis, Hepatic cal...	OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Hip contracture, Knee flexion contracture	OMIM:156400
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Celiac Disease, Susceptibility To, 1	Rickets, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Osteoporosis	OMIM:212750
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Lymphopenia, Leukopenia, Thrombocytosis	OMIM:615934
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit...	OMIM:300400
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Elevated cir...	ORPHA:454836
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 96	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti...	OMIM:619774
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hyperammonemia	ORPHA:292
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Chondrocalcinosis, Portal fibrosis, Acute hepatic...	OMIM:277900
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Phenylketonuria	Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, Aggres...	OMIM:261600
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Polydipsia, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Dysphag...	ORPHA:99880
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll...	OMIM:603909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Al Amyloidosis	Hypoalbuminemia, Abnormality of the liver, Increased circulating NT-proBNP concentration, Weight ...	ORPHA:85443
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Hepatitis, Fasciitis, Elevated circulating creatinine concentration,...	ORPHA:36234
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Glucagonoma	Intrahepatic cholestasis, Subcutaneous lipoma, Neoplasm of the pancreas, Intermittent jaundice, W...	ORPHA:97280
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Hyperactivity	DECIPHER:39
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hepatic steatosis, Cirrhosis, Hyp...	ORPHA:363400
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss, Elevated circulating hepatic transaminase concentration, Liver abscess	ORPHA:67
Wolman Disease	Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem...	ORPHA:37042
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hepatocellular carcinoma, Stage 5 chronic kidney disease, Hepatic steatosis, Ne...	ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glyc...	ORPHA:505248
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Lymph...	ORPHA:457077
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney	OMIM:618188
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu...	ORPHA:572
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Hyperproteinemia, Hyper...	ORPHA:29073
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:616719
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:613658
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Abnormal circulating ...	OMIM:308230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Proteus Syndrome	Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge...	ORPHA:744
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat...	ORPHA:1414
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico...	OMIM:130650
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hypercalcemia	ORPHA:276621
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypocalcemia, Failure to thrive	OMIM:606407
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gestational age,...	OMIM:601678
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia	OMIM:175500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Hypernatremia	OMIM:615508
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Addison Disease	Failure to thrive, Hyperuricemia, Hyponatremia, Salt craving, Weight loss, Anorexia, Hyperkalemia...	ORPHA:85138
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Weight loss, Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia	OMIM:612462
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Hypokalemia	OMIM:174900
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis	ORPHA:134
X-Linked Agammaglobulinemia	Cellulitis, Hepatitis, Failure to thrive, Hypocalcemia, Weight loss	ORPHA:47
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	ORPHA:79324
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly...	ORPHA:158057
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:620141
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Leukopenia, Leukocytosis, Thrombocytosis	ORPHA:20
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Splenomegaly	OMIM:602390
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Umbilical hernia, Hyperactivity, Camptodactyly	OMIM:235510
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina...	OMIM:619055
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ...	ORPHA:116
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Hypocalcemic seizures	ORPHA:94089
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Hypothyro...	ORPHA:39041
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Hypercalcemia	ORPHA:29072
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Genetic Recurrent Myoglobinuria	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypocalcemia, Hyperka...	ORPHA:99845
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive	OMIM:617729
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt...	OMIM:615688
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration...	ORPHA:2298
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Endocrine-Cerebroosteodysplasia	Microphallus, Hyperechogenic kidneys, Cryptorchidism, Adrenal hypoplasia, Hypospadias, Enlarged k...	OMIM:612651
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Pheochromocytoma	Hypercalcemia	OMIM:171300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis	OMIM:615486
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive	OMIM:602361
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology	ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	OMIM:264700
Tarp Syndrome	Horseshoe kidney, Hydronephrosis, Cryptorchidism, Extramedullary hematopoiesis	ORPHA:2886
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Small for gestation...	OMIM:251300
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney	OMIM:252500
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Inguinal hernia, Hypocalcemia, Splenomegaly, Hepato...	OMIM:235255
Multiple Endocrine Neoplasia Type 4	Subcutaneous lipoma, Insulinoma, Abnormality of pancreas physiology, Hypercalcemia, Extrahepatic ...	ORPHA:276152
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:600081
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Dysphagia	OMIM:254900
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ...	ORPHA:79328
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia	ORPHA:79396
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased ci...	ORPHA:90363
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom...	OMIM:306955
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Inguinal hernia, Hypocalcemia, ...	ORPHA:1655
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio...	OMIM:600802
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral...	ORPHA:79124
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Splenomegaly, Hypocalcemia, Failure to thrive	OMIM:259700
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti...	OMIM:207800
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Hypocalcemia, Splenomegaly, Hypophosphatemia, Enamel hypoplasia, Hepatomegaly,...	ORPHA:289157
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat...	ORPHA:500095
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Hypercalcemia, Reduced subcutaneous adipose tissue	ORPHA:653
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cr...	OMIM:612541
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Chronic hepatic failure, Diffuse hepatic...	ORPHA:746
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr...	ORPHA:99826
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurrent candida infections, ...	ORPHA:83471
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Failure to thrive, Hypocholesterolemia, Elevated circ...	OMIM:270400
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Immunodeficiency 10	Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyt...	OMIM:612783
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Ogden Syndrome	Polycythemia, Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Cardio...	OMIM:300855
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin...	ORPHA:699
Igg4-Related Thyroid Disease	Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis, Dysphagia, Retroperitoneal fibrosis	ORPHA:64744
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc...	ORPHA:411634
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c...	OMIM:102700
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Subcutaneous lipoma	ORPHA:79076
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom...	OMIM:616084
Timothy Syndrome	Hypocalcemia	OMIM:601005
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Hyper...	ORPHA:508
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Hypochromic microcytic anemia, Congenita...	ORPHA:77297
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Multiple Endocrine Neoplasia Type 1	Insulinoma, Multiple lipomas, Weight loss, Anorexia, Hypercalcemia, Neoplasm of the pancreas	ORPHA:652
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	OMIM:613179
Cardiac-Urogenital Syndrome	Accessory spleen, Cryptorchidism, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Un...	OMIM:618280
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, Enamel hypoplasia, Cal...	ORPHA:79444
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia	ORPHA:1304
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala...	OMIM:619534
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Hepatitis, Splenomegaly, Weight loss, Anorexia, Elevated circulating C-reactive ...	OMIM:619381
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic bil...	OMIM:214110
Williams Syndrome	Cholelithiasis, Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental ename...	ORPHA:904
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu...	OMIM:615873
Sarcoidosis	Hepatic failure, Decreased liver function, Portal hypertension, Scarring, Weight loss, Abnormal l...	ORPHA:797
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia	OMIM:617913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Hypocalcemia	OMIM:618476
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypocalcemia, Failure to thrive	OMIM:607143
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Kenny-Caffey Syndrome, Type 2	Small for gestational age, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Cholecystitis, Elevated circulating C-reactive protein concentration,...	ORPHA:2331
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hepatic calcification, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent...	OMIM:610199
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Double Outlet Right Ventricle	Hypocalcemia, Failure to thrive	ORPHA:3426
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H...	OMIM:248250
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Splenomegaly, Nephroblastoma, Cry...	OMIM:312870
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Williams-Beuren Syndrome	Umbilical hernia, Failure to thrive in infancy, Obesity, Portal hypertension, Inguinal hernia, Ob...	OMIM:194050
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, Enamel hypoplasia, Cal...	ORPHA:79443
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Obesity, Hyperphosphatemia, Enamel hypoplasia	OMIM:103580
Velocardiofacial Syndrome	Aggressive behavior, Inguinal hernia, Hypocalcemia, Umbilical hernia	OMIM:192430
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leu...	ORPHA:2968
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Sotos Syndrome	Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda...	ORPHA:821
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro...	ORPHA:906
Doors Syndrome	Sagittal craniosynostosis, Thrombocytosis	ORPHA:79500
Gitelman Syndrome	Hypermagnesemia, Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Hypocalcemia, ...	ORPHA:358
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Inguinal hernia, Hyp...	OMIM:218330
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Ethylene Glycol Poisoning	Addictive alcohol use, Hyperkalemia, Hypocalcemia	ORPHA:31826
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Autoimmune hemolytic an...	OMIM:620565
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Hyperthyroidism, Nonautoimmune	Small for gestational age, Hyperactivity, Increased circulating thyroglobulin concentration	OMIM:609152
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Hypocalcemia, Failure to thrive	ORPHA:175
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni...	OMIM:249100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-pulling, Polypha...	OMIM:620330
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Wiskott-Aldrich Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa...	OMIM:301000
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h...	ORPHA:567983
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Multiple bladder diverticula, Ascites, Hydronephrosis, Hypoplasia of the thymus...	OMIM:613177
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Bruxism, Stereotypical body rocking...	OMIM:619503
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia	OMIM:300712
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:75565
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Recurrent candida infections	OMIM:201100
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, ...	ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia	ORPHA:163979
Monosomy 22	Micropenis, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Eec Syndrome	Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Renal hypoplasia/ap...	ORPHA:1896
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Renal insufficiency, Splenomeg...	OMIM:188400
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t...	ORPHA:436252
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Hypocalcemia, Failure to thrive, Elevated circulating creatine kinase concentration	ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Pancreatitis, Hypocalcemia	ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Hypophosphatemia, Hypocalcemia	ORPHA:667
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Hennekam Syndrome	Splenomegaly, Hypocalcemia, Camptodactyly of finger	ORPHA:2136
Schimke Immuno-Osseous Dysplasia	Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function	ORPHA:1830
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:79318
Orotic Aciduria	Impaired T cell function	OMIM:258900
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Failure to thrive, Exocrine pancreat...	OMIM:243800
Treacher-Collins Syndrome	Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Hypoplasia of penis,...	ORPHA:861
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Progeroid Short Stature With Pigmented Nevi	Recurrent viral infections, Impaired T cell function	OMIM:176690
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg...	ORPHA:391487
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp...	OMIM:620186
Charge Syndrome	Umbilical hernia, Hypocalcemia, Self-mutilation, Omphalocele, Dysphagia	OMIM:214800
Truncus Arteriosus	Cardiomegaly, Hypoplasia of the thymus, Right ventricular hypertrophy, Adrenocortical abnormality	ORPHA:3384
Behçet Disease	Renal insufficiency, Splenomegaly, Orchitis, Glomerulopathy, Pancreatitis, Lymphadenopathy	ORPHA:117
Wiedemann-Rautenstrauch Syndrome	Long penis, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Hypospa...	OMIM:264090
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000

Histopathology

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

There is no histopathology data for Erap1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Erap1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Characterization of immune responses associated with ERAP-1 expression in HSV-induced Behçet's disease mouse model.	Clinical immunology (Orlando, Fla.) (March 2023)	Erap1^{tm1a(KOMP)Wtsi} Erap1^{tm1b(KOMP)Wtsi}	37003592

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Erap1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Erap1^{tm2b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Erap1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Erap1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Erap1 MGI:1933403

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Human diseases caused by Erap1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data