Gene Summary

Name:
FYVE, RhoGEF and PH domain containing 5
Synonyms:
ZFYVE23,  C330025N11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Fgd5em1(IMPC)Mbp HET Early adult 3.82×10-08
abnormal placenta vasculature Fgd5em1(IMPC)Mbp HET E15.5 0.00
abnormal kidney morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
enlarged heart Fgd5em1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Fgd5em1(IMPC)Mbp HOM   E15.5 0.00
abnormal retina blood vessel morphology Fgd5em1(IMPC)Mbp HET Early adult 1.67×10-05
abnormal retina vasculature morphology Fgd5em1(IMPC)Mbp HET Early adult 4.05×10-05
enlarged kidney Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Fgd5em1(IMPC)Mbp HOM   Early adult 0.00
increased red blood cell distribution width Fgd5em1(IMPC)Mbp HET Early adult 2.49×10-10
small liver Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Fgd5em1(IMPC)Mbp HET E15.5 0.00
decreased circulating glucose level Fgd5em1(IMPC)Mbp HET   Early adult 2.72×10-05
small testis Fgd5em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Fgd5em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Fgd5em1(IMPC)Mbp HET Early adult 0.00
decreased circulating cholesterol level Fgd5em1(IMPC)Mbp HET Early adult 2.61×10-06

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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

36 Images

MicroCT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Fgd5 mutations

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

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

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

The table below shows human diseases predicted to be associated to Fgd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate... OMIM:232220
Ethanolaminosis
Cardiomegaly OMIM:227150
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate... OMIM:232200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Jaundice, Hypop... ORPHA:231226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Renal tubular at... OMIM:617303
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Cirrhosis, Hep... OMIM:607765
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Abno... OMIM:607616
Tyrosinemia, Type I
Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Hypertyrosinemia, Splenomegal... OMIM:276700
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepatic transaminase, Ascites, Anemia... ORPHA:858
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Anisocytosis, Renal hypoplasia, 3-Methylglutaconic aciduria, Lactica... OMIM:604273
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin... OMIM:212140
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, E... OMIM:615558
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Retinal dystrophy, Hypocholesterolemia OMIM:266510
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the k... ORPHA:369
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Amenorrhea, Infertility, Hepatomegaly, Splenomegaly... OMIM:602390
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatospl... ORPHA:464329
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Retinopathy, Hematuria, Hemol... OMIM:603903
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Pancreatitis, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
H Syndrome
Histiocytosis, Amenorrhea, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged ki... ORPHA:168569
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... OMIM:608978
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Splenoportal Vascular Anomalies
Hyperammonemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... OMIM:618280
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular ... ORPHA:251004
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Orotic Aciduria
Hypochromia, Oroticaciduria, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anis... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Pancytopenia, Primary adrenal insufficiency, Hypoglycemia, Hypogon... OMIM:617872
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Abnormal ... ORPHA:370
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concen... OMIM:618156
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly ORPHA:796
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... OMIM:619048
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... OMIM:256550
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Micropenis, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Endocardial Fibroelastosis
Hypoplasia of penis, Restrictive cardiomyopathy, Anterior hypopituitarism, Endocardial fibroelast... ORPHA:2022
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep... ORPHA:98870
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Hydroureter, Pigmentary retinopathy, Thrombocytopenia, ... OMIM:222300
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... ORPHA:848
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hepatic failure, Hypertriglyceridem... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Atrial septal defect, Abnormality of retinal pigmentation, Hepatosplenomegaly... ORPHA:505248
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Adrenocortical ... ORPHA:116
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Premature ovarian insufficiency, Lymph... ORPHA:100025
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... OMIM:619386
Chylomicron Retention Disease
Steatorrhea, Retinopathy, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemia, Inc... ORPHA:71
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fundus, Abnorma... ORPHA:14
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase... ORPHA:75563
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... ORPHA:446
Attrv30M Amyloidosis
Impotence, Abnormal renal physiology, Nephropathy, Vitreous floaters, Cardiomyopathy, Cardiomegaly ORPHA:85447
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Reduced sperm motility, Cone/cone-rod dys... OMIM:602271
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Leprechaunism
Postprandial hyperglycemia, Hypokalemia, Hepatomegaly, Hyperinsulinemia, Insulin resistance, Hype... ORPHA:508
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618838
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... OMIM:615559
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Pig... ORPHA:96180
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic steatosis OMIM:261650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Renal tub... ORPHA:264580
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis... OMIM:615630
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Optic atrophy, Renal insufficiency, Neu... ORPHA:79312
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... OMIM:618892
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, 3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon... ORPHA:79237
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Organic aciduria, Hypoglycemia, Cardiomyopathy ORPHA:35
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricula... ORPHA:290
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Abnormal myocard... ORPHA:228308
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... OMIM:611490
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... ORPHA:42
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Optic atrophy, Hypoglycemia, Ren... OMIM:261680
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypoglycemia, Diabetes mellitus, Insulin resistan... ORPHA:181393
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Hypertri... ORPHA:31150
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis... ORPHA:79240
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... ORPHA:615
Potocki-Lupski Syndrome
Atrial septal defect, Abnormal renal morphology, Hypothyroidism, Hypocholesterolemia, Patent fora... OMIM:610883
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Cardiomegaly OMIM:619064
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Endocrine-Cerebroosteodysplasia
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... OMIM:612651
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrhosis, Splenomegaly, ... OMIM:251880
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Dysmenorrhea, Splenomegaly, Insulin resistance, Cirrhosis, Primary am... ORPHA:79083
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Comp... ORPHA:247691
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Optic disc pallor, Hyperalaninemia, Perimembranous ventricular septal defect, Ca... OMIM:619170
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Pigmentary retinopathy, Ascites, Cardiomegaly,... OMIM:253250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Alg12-Cdg
Muscular ventricular septal defect, Micropenis, Hypospadias, Retinal detachment, B lymphocytopeni... ORPHA:79324
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Paten... OMIM:601005
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology, Elevated levels of phytanic ... OMIM:266500
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia, 3-Methylglutaconic aciduria, Thrombocytopenia, Cardiomyop... ORPHA:67048
Alg9-Cdg
Ureteral hypoplasia, Atrial septal defect, Hepatomegaly, Periportal fibrosis, Bicornuate uterus, ... ORPHA:79328
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Abnormality of retinal pigmentation, Hepatomegaly, Retinopathy, Chorio... ORPHA:5
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertrophic... OMIM:246900
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... OMIM:180080
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... OMIM:614866
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Retinopathy, Mediastinal lymphadenopathy, Thr... ORPHA:158029
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T... ORPHA:108
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Insulin resistance, Cirrho... ORPHA:90970
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Adrenal calcification, Hepatic fa... ORPHA:75233
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:614741
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma... ORPHA:276280
Hsd10 Disease, Infantile Type
Retinal degeneration, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia, Rod-c... ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia, Macrocytic anemia... OMIM:619046
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Dysmenorrhea, Splenomegaly, Insulin resistance, Glomerulopathy, Hyper... ORPHA:2348
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... ORPHA:288
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... OMIM:617575
Ogden Syndrome
Hydrocele testis, Enlarged kidney, Ventricular septal defect, Jaundice, Cardiomegaly, Global glom... OMIM:300855
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegal... OMIM:606003
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites ORPHA:87876
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminas... OMIM:613812
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Hepatic failu... ORPHA:2088
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... OMIM:616589
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Hyperammonemia, Hepatic failure,... ORPHA:2394
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... ORPHA:158061
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... ORPHA:507
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Classic Galactosemia
Hepatomegaly, Hepatic failure, Primary amenorrhea, Oligomenorrhea, Abnormal erythrocyte enzyme le... ORPHA:79239
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminas... ORPHA:156
Pyruvate Carboxylase Deficiency
Hepatomegaly, Proximal renal tubular acidosis, Increased serum pyruvate, Hypoglycemia, Hyperalani... OMIM:266150
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Pancreatitis, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Restrictive cardio... ORPHA:822
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney ORPHA:79128
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Sp... OMIM:612714
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morpholo... ORPHA:500095
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Atrial septal defect, Decreased response to growth hormone stimulati... OMIM:602782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Increased urinary porphobilinogen, Increased erythrocyte ... ORPHA:79277
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis, Cardiomegaly ORPHA:99931
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Ambiguous genitalia, Small scrotum, Cholestatic liver di... OMIM:270400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... OMIM:252500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Elevated circu... OMIM:257200
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevate... OMIM:615160
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Elevated ... OMIM:614576
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Hyperammonemia, Leukopenia, Methylmalonic aciduria, Hypoglycemia, Tub... OMIM:251000
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Splenomegaly, Unilateral renal agene... OMIM:216360
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... OMIM:618534
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Cone/cone-rod dystrophy, Splenomegaly OMIM:614979
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hepatic failure, Elevated hepatic tr... OMIM:235555
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... ORPHA:829
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tract obstruction, Ascites,... ORPHA:77259
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I... OMIM:601847
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Mogs-Cdg
Hydrocele testis, Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate ... ORPHA:79330
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
8P11.2 Deletion Syndrome
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... ORPHA:251066
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decr... OMIM:618495
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Muckle-Wells Syndrome
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Optic atrophy, Delayed puberty, Rena... ORPHA:575
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... ORPHA:57777
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Retinal dystrophy, Ventricular septal defect, Noncompac... OMIM:616651
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C... OMIM:300853
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I... OMIM:211600
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Organic aciduria, Decreased plasma carni... OMIM:246450
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Elevated circulating... OMIM:619662
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Macular atrophy, Pancytopenia, Anemia, Thrombo... OMIM:230800
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... OMIM:301078
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Cherry red spot of the macula, Splenomegaly OMIM:228000
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Glycosuria, Hypopl... ORPHA:699
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... ORPHA:1655
Sandhoff Disease
Impotence, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Urinary... OMIM:268800
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Elevated hepatic transam... OMIM:616026
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Uterine neoplasm, Prostate canc... ORPHA:2126
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... OMIM:618641
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Elevate... OMIM:269700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia OMIM:608885
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Renal dysplasia, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:613091
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Neonatal hypogl... OMIM:212138
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Cinca Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ... ORPHA:1451
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ... ORPHA:381
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Propionic Acidemia
Hepatomegaly, Hyperglycinuria, Pancreatitis, Hyperammonemia, Pancytopenia, Hypoglycemia, Hypergly... OMIM:606054
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transam... OMIM:201450
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... OMIM:301068
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen... OMIM:262190
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Amyloid deposition in the vitreous humor, Cardiomyopathy, Cardiomegaly, Urinary incont... OMIM:105210
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Pericarditis, ... ORPHA:85414
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... OMIM:235255
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... OMIM:300842
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperammonemia, Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperalaninemia OMIM:619051
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Rod-cone dystrophy, Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia... OMIM:616084
Isolated Biliary Atresia
Decreased liver function, Dark yellow urine, Hepatomegaly, Prolonged neonatal jaundice, Splenomeg... ORPHA:30391
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... OMIM:619259
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites ORPHA:2414
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperlysinemia, Hepatomegaly, Hypervalinemia, Leukocytosis, S... OMIM:615673
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hydrocele testis, Exocrine pancreatic insufficiency... OMIM:619991
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly OMIM:205400
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff... ORPHA:91138
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Mirage Syndrome
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, ... OMIM:617053
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,... OMIM:608594
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 32B
Splenomegaly OMIM:226990
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Hepatoblastoma, Right ventricular hypertrophy, Pulmonic steno... OMIM:312870
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... OMIM:615895
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Splenomegaly, Renal agenesis, Hypercalciuria, Hypothyroidism, Mucopol... OMIM:618440
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hypoplasia, Renal ... OMIM:610199
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Hypoalbumin... ORPHA:255249
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Cryptorchidism, Hyperk... OMIM:614736
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Ascites ORPHA:834
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Aredyld Syndrome
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type I diabetes... ORPHA:1133
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Hepatic failure, Hypoglycemia, Dic... OMIM:611126
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, In... ORPHA:77293
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulating parathyroid hor... OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... OMIM:308750
Wilson Disease
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... OMIM:277900
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Abnormality of... OMIM:230500
Bardet-Biedl Syndrome 20
Pancreatitis, Atrial septal defect, Rod-cone dystrophy, Micropenis, Papilledema, Retinal vascular... OMIM:619471
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Secundum atrial septal defect, Lymphopenia, Splenomegaly, Pulmonic stenosis, Crypto... OMIM:612541
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Cirrhos... ORPHA:90363
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid concentration,... OMIM:231680
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618839
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh... OMIM:300972
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Optic disc pallor, Hypocholesterolemia, Clitoral... OMIM:244450
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618835
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice, Car... OMIM:616483
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Pancreatitis, Hemophagocytosis, Decre... ORPHA:470
Legionnaires Disease
Lymphopenia, Pancreatitis, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepatitis, Protein... ORPHA:549
Syndromic Diarrhea
Bicuspid aortic valve, Hepatomegaly, Atrial septal defect, Lymphopenia, Splenomegaly, Hepatoblast... ORPHA:84064
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Ethylma... ORPHA:26791
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Optic nerve hypoplasia, Pancreatic hypoplasia, Hypoglycemia, Diabe... OMIM:609069
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... OMIM:619355
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Dubowitz Syndrome
Rod-cone dystrophy, Hypospadias, Aplastic anemia, Hypocholesterolemia, Cryptorchidism, Acute lymp... OMIM:223370