Gene: Agpat5 MGI:1196345

Gene Summary

Name:

1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)

Synonyms:

D8Ertd319e, 1110013A05Rik

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
abnormal heart morphology	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lean body mass	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	9.49×10^-05
enlarged heart	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased NK cell number	Agpat5^{em1(IMPC)Ccpcz}	HOM	Early adult	8.11×10^-06

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Human diseases caused by Agpat5 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 Agpat5 (0 diseases)
Human diseases predicted to be associated with Agpat5 (611 diseases)

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

The table below shows human diseases predicted to be associated to Agpat5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615395
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Failure to thrive, Lymphad...	OMIM:609981
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce...	OMIM:614172
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Ethanolaminosis	Cardiomegaly	OMIM:227150
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob...	ORPHA:158057
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,...	OMIM:301082
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Weight loss	ORPHA:52416
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Spl...	OMIM:616050
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect...	OMIM:620135
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi...	OMIM:607685
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Splenomegaly, Hepatomegaly	OMIM:619175
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function	OMIM:616829
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase	OMIM:618400
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Immunodeficiency 104	T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome...	OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,...	ORPHA:276
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur...	OMIM:618108
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,...	OMIM:301045
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory...	OMIM:619510
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti...	OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi...	OMIM:615285
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency 48	Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen...	OMIM:133180
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis	ORPHA:139491
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Neutral Lipid Storage Disease With Myopathy	Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly	OMIM:610717
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno...	OMIM:618963
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function	OMIM:617093
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly	OMIM:232700
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:613313
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Failure...	ORPHA:858
Mast Cell Sarcoma	Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:228312
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu...	OMIM:614470
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Galactose Epimerase Deficiency	Weight loss, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Mu-Heavy Chain Disease	Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Rotor Syndrome	Intermittent jaundice, Storage in hepatocytes, Jaundice	ORPHA:3111
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Infantile Sialic Acid Storage Disease	Failure to thrive, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
African Iron Overload	Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos...	ORPHA:139507
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Alpha-Thalassemia	Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia...	ORPHA:846
Sandhoff Disease	Failure to thrive, Splenomegaly, Hepatomegaly	ORPHA:796
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf...	ORPHA:35078
Immunodeficiency 19	Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo...	OMIM:615617
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
Galactosemia Iii	Failure to thrive, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Hemochromatosis, Type 2A	Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Sple...	OMIM:602390
Hemochromatosis, Type 1	Cirrhosis, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotro...	OMIM:235200
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Hep...	OMIM:608233
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase...	OMIM:264470
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy	OMIM:608540
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells	OMIM:243700
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess	OMIM:612260
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In...	OMIM:618534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel...	OMIM:602450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ...	ORPHA:331206
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat...	OMIM:619048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni...	OMIM:300853
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro...	ORPHA:209902
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Failure to th...	ORPHA:79301
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Follicular Lymphoma	Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom...	ORPHA:545
Progressive Familial Intrahepatic Cholestasis	Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis	OMIM:615703
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:607616
Combined Oxidative Phosphorylation Deficiency 34	Hepatic steatosis, Hepatic failure, Hepatomegaly	OMIM:617872
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly	OMIM:606069
Neuraminidase Deficiency	Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly...	OMIM:256550
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko...	OMIM:603903
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi...	OMIM:618641
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy...	ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Beta-Thalassemia	Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy...	ORPHA:848
Immunodeficiency 27A	Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt...	OMIM:209950
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity	ORPHA:88643
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom...	ORPHA:158061
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Infantile Liver Failure Syndrome 1	Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly	OMIM:615438
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr...	ORPHA:2585
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor...	OMIM:278000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypoplasia of penis, Hypospadias, Ascites, Splenomegaly	ORPHA:1046
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatom...	OMIM:618495
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hep...	OMIM:618805
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:619868
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly	OMIM:613101
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis	OMIM:608709
Immunodeficiency 55	Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615010
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal...	OMIM:615234
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Abnormal natural killer cell count, Anemia, T lymphocytopenia, Asci...	ORPHA:79124
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope...	OMIM:615559
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele...	OMIM:619386
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Pfapa Syndrome	Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F...	OMIM:603554
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Osteopetrosis, Autosomal Recessive 8	Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:615085
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Increased muscle glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ...	OMIM:301074
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive	OMIM:614096
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ...	OMIM:618652
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Failure to thrive, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegal...	ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly	OMIM:619658
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatomegaly,...	OMIM:615387
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt...	OMIM:619824
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h...	OMIM:613011
Caspase 8 Deficiency	Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Gaucher Disease, Type Iii	Decreased body weight, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:231000
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Familial Atrial Myxoma	Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal...	ORPHA:615
Transaldolase Deficiency	Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Small for g...	OMIM:606003
Leishmaniasis	Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, H...	ORPHA:507
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat...	OMIM:614582
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy	OMIM:617713
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly	OMIM:300635
Wilson Disease	Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, A...	ORPHA:905
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,...	OMIM:613673
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt...	OMIM:235700
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra...	ORPHA:567983
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid...	OMIM:226990
Aicardi-Goutieres Syndrome 4	Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610333
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Giant cell hepatitis...	ORPHA:79303
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly	OMIM:214900
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy	ORPHA:85447
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly	ORPHA:37748
Dysplastic Cortical Hyperostosis	Splenomegaly, Hepatomegaly	ORPHA:2204
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis	OMIM:616719
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:600649
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegal...	ORPHA:3226
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Weight loss, Hep...	OMIM:619381
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e...	OMIM:261680
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati...	OMIM:231005
Congenitally Uncorrected Transposition Of The Great Arteries	Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat...	OMIM:618052
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas...	OMIM:615122
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hepatomegaly	OMIM:615238
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly	ORPHA:158029
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte...	OMIM:616278
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi...	OMIM:616828
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Testicular atrophy, Hepatom...	ORPHA:465508
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology	ORPHA:2584
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:255120
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter...	OMIM:613470
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea...	ORPHA:221139
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja...	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr...	OMIM:602347
Hb Bart'S Hydrops Fetalis	Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Lymphoproliferative Syndrome, X-Linked, 1	Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt...	OMIM:308240
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cholesteryl Ester Storage Disease	Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly	ORPHA:75234
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Leukocytosis	OMIM:611762
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,...	ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea...	OMIM:266200
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure	OMIM:231530
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:201450
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615595
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Failure to thrive in infancy, Hepatomegaly	OMIM:619064
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ...	OMIM:603909
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re...	OMIM:212140
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Cirrhosis, Hepatomegaly	ORPHA:363400
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Failure to thrive, Hepatomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Macrocephaly/Autism Syndrome	Hydrocele testis, Lymphopenia, Large for gestational age, Penile freckling, Hepatomegaly, Obesity...	OMIM:605309
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac...	OMIM:618935
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega...	OMIM:619463
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Attrv122I Amyloidosis	Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph...	ORPHA:85451
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis	ORPHA:2414
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thrive, ...	OMIM:614702
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He...	ORPHA:158048
Wolman Disease	Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequat...	OMIM:612714
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Retroperitoneal fibrosis, Decreased response to growth hormone stimulation...	OMIM:602782
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ...	OMIM:601847
Ddost-Cdg	Hepatic steatosis, Elevated hepatic transaminase	ORPHA:300536
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly	OMIM:240500
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Classic Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly	ORPHA:391
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi...	OMIM:211600
Neonatal Lupus Erythematosus	Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop...	ORPHA:398124
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly	ORPHA:2969
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Elevated hepatic transaminase, Hepatosplenomegaly	OMIM:619013
Adams-Oliver Syndrome 6	Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly	OMIM:616589
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ...	ORPHA:324410
Adult-Onset Still Disease	Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ...	ORPHA:829
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ...	OMIM:617394
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Mulibrey Nanism	Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites	OMIM:253250
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Pulmonic stenosis, Secundum atria...	OMIM:612541
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Abnormality of the liver, Hypogonadism, Increased HbA2 hemoglobin, Jau...	ORPHA:231222
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Meacham Syndrome	Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d...	ORPHA:3097
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis	OMIM:615980
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hepatomegaly	ORPHA:42
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:370
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Cardiomegaly, Pericardial effusion, Small for gestational age, Abnormal tri...	ORPHA:555874
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated hepatic ...	OMIM:615381
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:85414
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly	ORPHA:79085
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly	ORPHA:56425
Griscelli Syndrome	Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel...	ORPHA:381
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Failure to thrive, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly,...	OMIM:257200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d...	OMIM:224120
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat...	ORPHA:2137
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Cholestasis, Port...	OMIM:614300
Adams-Oliver Syndrome 5	Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular...	OMIM:616028
Felty Syndrome	Anemia, Weight loss, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Th...	ORPHA:47612
Mogs-Cdg	External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect...	ORPHA:79330
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:235555
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:100026
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves...	OMIM:256810
Elliptocytosis 1	Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit...	OMIM:306955
Porphyria Cutanea Tarda	Periportal fibrosis, Hepatic lobular inflammation, Elevated hepatic transaminase, Hepatocellular ...	ORPHA:101330
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis, Hepatomegaly	OMIM:201475
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Timothy Syndrome	Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect	OMIM:601005
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas...	OMIM:613812
Omenn Syndrome	Anemia, Failure to thrive, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegal...	ORPHA:39041
Gaucher Disease Type 1	Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o...	ORPHA:77259
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly...	OMIM:208540
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	ORPHA:369840
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:435651
Chylomicron Retention Disease	Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase	ORPHA:71
3-Methylglutaconic Aciduria, Type V	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:610198
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly	ORPHA:228305
Fixed Subaortic Stenosis	Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia...	ORPHA:3092
Interstitial Lung And Liver Disease	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic...	OMIM:615486
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Dpm1-Cdg	Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly	ORPHA:79322
Cardiomyopathy, Familial Hypertrophic, 4	Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,...	OMIM:115197
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis...	OMIM:300908
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg...	OMIM:616100
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Failure to thrive, Giant cell hepa...	OMIM:607765
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci...	OMIM:605814
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen...	OMIM:230800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro...	OMIM:618278
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, C...	ORPHA:264580
Immunodeficiency 47	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate...	OMIM:300972
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami...	OMIM:614921
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis	OMIM:604367
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin...	ORPHA:231226
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ...	ORPHA:822
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count	OMIM:618394
Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:98375
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peri...	ORPHA:131
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Small for gestational age, Hypertrophic cardiomyopathy, Hypospadias, C...	OMIM:616897
Cantu Syndrome	Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Large for ...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Decreased liver function, Hepatomegaly	OMIM:614922
Primary Lipodystrophy	Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Cardiomyopathy	ORPHA:90970
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect	OMIM:617022
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79083
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Micropenis, Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia	OMIM:615966
Sézary Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology	ORPHA:3162
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Ventricular septal defect, Pulmonary lymphangiectasia, Hepato...	ORPHA:1655
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell...	ORPHA:231214
Legionnaires Disease	Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone...	ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:619051
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Pancreatitis, Splenomegaly, Hepatomegaly	ORPHA:2348
Gaucher Disease, Perinatal Lethal	Anemia, Decreased body weight, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocy...	OMIM:608013
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy	ORPHA:3386
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Hereditary Elliptocytosis	Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun...	ORPHA:288
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Atrial s...	ORPHA:251066
Immunodeficiency 40	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:616433
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:201100
Caroli Disease	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Weight loss, Liver abscess, ...	ORPHA:53035
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	OMIM:212138
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hepatomegaly	ORPHA:528
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno...	ORPHA:464329
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis	ORPHA:298
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Coronary Arterial Fistula	Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ...	ORPHA:2041
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Failure to thrive, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenome...	OMIM:617591
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:611126
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymph...	OMIM:235255
Essential Thrombocythemia	Abnormal platelet morphology, Splenomegaly, Acute leukemia	ORPHA:3318
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Failure to thri...	OMIM:308230
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	OMIM:230000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Failure to thrive, Lymphadenopat...	OMIM:615895
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Jaundice, Hepatic periportal necrosis, Hepatomegaly	OMIM:231680
Syndromic Diarrhea	Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Ventricular sept...	ORPHA:84064
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Hepatic steatosis, Micr...	ORPHA:98907
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Citrullinemia Type Ii	Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hep...	ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Lymphadenopath...	OMIM:603553
Lipe-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly	ORPHA:435660
Q Fever	Endocarditis, Anemia, Abnormality of the liver, Weight loss, Hepatitis, Pericardial effusion, Gra...	ORPHA:781
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Hypopit...	ORPHA:30391
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Anemia, Jaundice, Failure to thrive, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,...	OMIM:267700
Nodular Non-Suppurative Panniculitis	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:33577
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic steatos...	OMIM:619418
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Acute pan...	OMIM:619487
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Sclerosing cholangitis, Jaundice, Bile duct proli...	OMIM:607626
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis	OMIM:236200
Cirrhotic Cardiomyopathy	Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom...	ORPHA:57777
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly	OMIM:613320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:608836
Chediak-Higashi Syndrome	Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat...	OMIM:214500
Acyl-Coa Dehydrogenase 9 Deficiency	Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase	ORPHA:99901
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Fucosidosis	Abnormality of the gallbladder, Cardiomegaly, Failure to thrive, Hepatomegaly	ORPHA:349
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Alstrom Syndrome	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis	OMIM:203800
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig...	ORPHA:439
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatic necrosis, Acute hepatic failure, Elevated hepatic transaminase	ORPHA:71212
19P13.12 Microdeletion Syndrome	Hepatic steatosis	ORPHA:254346
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomeg...	OMIM:616084
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	ORPHA:348
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:614924
Complete Atrioventricular Septal Defect	Failure to thrive, Primum atrial septal defect, Displacement of the papillary muscles, Complete a...	ORPHA:1329
Brucellosis	Pericarditis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Endocarditis, Abnormality of the live...	ORPHA:1304
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Portal fibrosis, Cholestasis, Prolonged neona...	OMIM:619377
Craniofaciofrontodigital Syndrome	Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Large for gestational age...	ORPHA:363705
Acquired Generalized Lipodystrophy	Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Cirrhosis	ORPHA:79086
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Elevated hepatic transaminase	ORPHA:445038
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Jaundice, Failure to thrive, Chronic hemolytic anemia, Chole...	OMIM:615512
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenop...	ORPHA:1572
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal j...	OMIM:257220
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233710
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre...	ORPHA:3384
Familial Mediterranean Fever	Neutrophilia, Pericarditis, Leukocytosis, Hepatomegaly, Peritonitis, Orchitis, Splenomegaly	OMIM:249100
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Abscess	OMIM:612852
Glycogen Storage Disease Ii	Cardiomegaly, Splenomegaly, Hepatomegaly	OMIM:232300
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Hyperparathyroidism, Neonatal Severe	Anemia, Failure to thrive, Hepatomegaly, Primary hyperparathyroidism, Splenomegaly	OMIM:239200

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Gene: Agpat5 MGI:1196345

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Human diseases caused by Agpat5 mutations