Gene Summary

Name:
La ribonucleoprotein 1, translational regulator
Synonyms:
3110040D16Rik,  Larp,  1810024J12Rik

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
abnormal kidney morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Larp1em1(IMPC)Mbp HET Late adult 0.00
absent seminal vesicle Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged urinary bladder Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Larp1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Larp1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating cholesterol level Larp1em1(IMPC)Mbp HET Late adult 1.56×10-10
abnormal heart morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal seminal vesicle morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
small testis Larp1em1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Larp1em1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating HDL cholesterol level Larp1em1(IMPC)Mbp HET Late adult 5.63×10-09
enlarged seminal vesicle Larp1em1(IMPC)Mbp HET Late adult 0.00

Download data as:  TSV  XLS

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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

103 Images

X-ray

XRay Images Whole Body Lateral Orientation

37 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Larp1 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 Larp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... OMIM:613885
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly, Micropenis, Hydrocele testis OMIM:618810
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Hypocholesterolemia, Bicuspid aort... OMIM:618156
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic ... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy... OMIM:276700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Atrial septal ... OMIM:608776
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ... OMIM:608978
H Syndrome
Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcyt... ORPHA:168569
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... OMIM:130650
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Bone marrow hypocellularity, Hype... OMIM:617303
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Ch... ORPHA:79259
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hyperchole... OMIM:612526
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Co... OMIM:269920
Symptomatic Form Of Hfe-Related Hemochromatosis
Infertility, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hypothyroidism, ... ORPHA:465508
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Steatorrhea,... OMIM:266510
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Potocki-Lupski Syndrome
Hypocholesterolemia, Patent foramen ovale, Abnormal renal morphology, Hypothyroidism, Atrial sept... OMIM:610883
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Increased LDL cholestero... OMIM:278000
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperammonemia, ... OMIM:600649
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... ORPHA:251004
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Decreased HDL chol... OMIM:616834
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Hyperprolinemia, Cardiomegaly, Hyperalan... OMIM:619064
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Wolman Disease
Adrenal calcification, Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology ORPHA:85447
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretio... ORPHA:505248
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... OMIM:256550
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade... ORPHA:31150
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Alg9-Cdg
Periportal fibrosis, Right ventricular dilatation, Hypoplasia of the bladder, Abnormal heart morp... ORPHA:79328
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... OMIM:201475
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... ORPHA:228308
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepat... ORPHA:264580
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal... OMIM:612651
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Central hypothyroidism, Overgrowth of externa... ORPHA:508
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Redu... OMIM:266200
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Hyperuric... ORPHA:79083
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bla... OMIM:222300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutrope... ORPHA:79312
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep... ORPHA:71
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Biventricular hypertrop... ORPHA:79324
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se... OMIM:270400
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Ogden Syndrome
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:300855
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg... ORPHA:1655
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... OMIM:616589
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, G... ORPHA:2348
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial ... OMIM:614702
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... OMIM:261740
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc... OMIM:252500
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial... ORPHA:57777
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hep... ORPHA:75233
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir... ORPHA:77259
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:619051
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Mulibrey Nanism
Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre... OMIM:617713
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hypocalcemia, Ventricular ... OMIM:235255
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ... OMIM:205400
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Oculoskeletodental Syndrome
Renal agenesis, Cryptorchidism, Hypocalcemia, Splenomegaly, Hypercalciuria, Hypothyroidism, Mucop... OMIM:618440
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... OMIM:266500
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru... OMIM:619046
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E... OMIM:611881
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi... OMIM:616897
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen... OMIM:614576
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro... ORPHA:500095
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... OMIM:601005
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Anemi... ORPHA:457077
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicul... OMIM:300322
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Supernumera... OMIM:312870
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom... OMIM:618495
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Dubowitz Syndrome
Aplastic anemia, Hypocholesterolemia, Cryptorchidism, Acute lymphoblastic leukemia, Hypospadias OMIM:223370
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun... OMIM:603909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Prolonged neonatal jaundice, Fava bean... OMIM:300908
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Hypocholesterolemia, Ventricular septal defect, Hypoplastic labia majora, A... OMIM:244450
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... ORPHA:85414
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Ventricu... OMIM:301068
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration... OMIM:608594
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ... ORPHA:905
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Hepatome... OMIM:249100
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ... ORPHA:251066
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly... ORPHA:391428
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly, Abnormal urinary color ORPHA:90037
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Splenomegaly, A... OMIM:239200
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra... OMIM:300842
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Abnormality o... ORPHA:84064
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration... OMIM:615895
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... OMIM:222470
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... ORPHA:699
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... OMIM:224120
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ... OMIM:210250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal... OMIM:612541
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eosinophilia,... ORPHA:39041
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ... ORPHA:288
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Clitoral hypertrophy, Cholestasis, Elevated circulating phytanic acid concentration,... OMIM:614866
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... OMIM:620306
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Glycogen Storage Disease Ii
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... OMIM:232300
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL choleste... ORPHA:77293
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Lymphan... ORPHA:744
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... OMIM:610717
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:308552
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... OMIM:301078
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple... ORPHA:565612
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired... OMIM:618935
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy... ORPHA:280365
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni... OMIM:608013
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi... OMIM:613179
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content OMIM:619259
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Chops Syndrome
Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Splenomegaly, Ventricular septal defect,... OMIM:616368
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Male in... OMIM:219800
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Gaucher Disease, Type I
Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph... OMIM:617591
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... OMIM:300257
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchit... ORPHA:342
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Brucellosis
Liver abscess, Intrarenal abscess, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomeg... ORPHA:1304
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri... ORPHA:77261
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto... OMIM:616084
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating hepatic transaminase concentration, Elevated circula... OMIM:256040
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Hypophosphatemic rickets, Dilated cardiomyopathy OMIM:208000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine... OMIM:619534
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy, Elevated circulating creatine kinase c... ORPHA:268
Gaucher Disease
Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated circulatin... ORPHA:355
Fucosidosis
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc... OMIM:230000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath... ORPHA:32960
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp... OMIM:249000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Splenomeg... OMIM:617913
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepatomegaly ORPHA:137675
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly... ORPHA:29073
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Atrial septal defect, Hydroce... OMIM:616843
Porphyria, Congenital Erythropoietic
Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin... OMIM:263700
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A... ORPHA:581
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic an... OMIM:620565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemol... OMIM:102700
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... ORPHA:904
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Increased circulating ferritin concentration, Or... OMIM:222700
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami... OMIM:243800
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... OMIM:613471
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy... ORPHA:51
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Abnormal cardi... ORPHA:97297
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Digeorge Syndrome
Hepatic steatosis, Ovarian cyst, Ventricular septal defect, Renal dysplasia, Cholelithiasis, Para... OMIM:188400