Gene Summary

Name:
La ribonucleoprotein domain family, member 1
Synonyms:
Larp,  1810024J12Rik,  3110040D16Rik

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
embryonic growth retardation Larp1em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged kidney Larp1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating cholesterol level Larp1em1(IMPC)Mbp HET Late adult 1.15×10-11
abnormal liver morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
increased mean platelet volume Larp1em1(IMPC)Mbp HET Early adult 8.37×10-05
absent seminal vesicle Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged urinary bladder Larp1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Larp1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged heart Larp1em1(IMPC)Mbp HET Late adult 0.00
decreased circulating cholesterol level Larp1em1(IMPC)Mbp HET   Early adult 7.40×10-05
enlarged spleen Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
small testis Larp1em1(IMPC)Mbp HET Late adult 0.00
enlarged seminal vesicle Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
abnormal seminal vesicle morphology Larp1em1(IMPC)Mbp HET Late adult 0.00
increased exploration in new environment Larp1em1(IMPC)Mbp HET Early adult 7.44×10-07

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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

57 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 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
Intrauterine growth retardation, Short stature OMIM:135950
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Hypothyroidis... ORPHA:85445
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Pancreatic cysts, Periportal f... OMIM:263200
Ethanolaminosis
Cardiomegaly OMIM:227150
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Pancreatic cysts, Hepatic cysts, Polysplenia, B... OMIM:208540
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Decreased mean corpuscula... OMIM:615234
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Azoospermia, Dilated cardio... OMIM:602390
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndro... OMIM:276700
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... ORPHA:90301
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Elevated circulating creatinine concen... OMIM:602088
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Elevated hepatic transaminase, Dilat... OMIM:608836
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic... OMIM:617303
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomega... OMIM:130650
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypocholesterolemia, Hepatomegaly, Micropenis, Hypertrophic cardiomyopathy OMIM:618810
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
H Syndrome
Azoospermia, Microcytic anemia, Enlarged kidney, Amenorrhea, Histiocytosis, Hypertriglyceridemia,... ORPHA:168569
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Bilateral cryptorchidism, Hypocholesterol... OMIM:618156
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232200
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232220
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:212065
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Urinary bladde... ORPHA:449395
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Hypertri... OMIM:612526
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardio... OMIM:617713
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Ventricular septal hypertrophy, Elevated circulating creat... ORPHA:370
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Cirrhosis, Abnormality of iron homeost... ORPHA:465508
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Anemia, Hyperlipi... ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Enlarged kidney, Sex rever... OMIM:612651
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypospadias, Renal hypoplasia/aplasia, ... ORPHA:1046
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... ORPHA:276280
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Cardiome... OMIM:269920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomeg... OMIM:255120
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroel... OMIM:212140
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Steatorrhea, Hypocholesterolemia OMIM:266510
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatome... OMIM:600649
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat... ORPHA:231222
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased serum testosterone concentration, Splenomegaly, Decreased testicular size... OMIM:201100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Patent foramen ovale, Enlarged kidney, Abnormal heart morphology, Heavy pro... ORPHA:505248
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ad... ORPHA:116
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Attrv30M Amyloidosis
Abnormal renal physiology, Impotence, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Anemia, Elevated circulating creatine kinase concentration... ORPHA:264580
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thro... OMIM:222300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Potocki-Lupski Syndrome
Abnormal renal morphology, Atrial septal defect, Hypothyroidism, Hypocholesterolemia, Patent fora... OMIM:610883
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged kidney, Enlarged ovaries, Central hypothyroidism, Increase... ORPHA:508
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Hypoc... ORPHA:31150
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Hardikar Syndrome
Elevated hepatic transaminase, Patent foramen ovale, Hydroureter, Ventricular septal defect, Hype... OMIM:612726
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Pancytopenia,... OMIM:606003
Lathosterolosis
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased mean platelet volum... OMIM:607330
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Reticulocytosis, Hepatic steatosis... ORPHA:14
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Hepatic steatosis, Hyperuricemia, Primary amenorrhe... ORPHA:79083
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Glomerulopathy, Second... ORPHA:2348
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Renal insufficie... ORPHA:79312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Hypoprotein... ORPHA:1655
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjugated hyperbilirubinem... ORPHA:53035
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Micropenis OMIM:613091
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Bilia... ORPHA:567983
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreatitis, Splenomegaly, T... ORPHA:90970
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Testicular atrophy, Decreased fertility OMIM:313200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal de... OMIM:235255
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Atrial septal defect, Renal agenesis, Bifid scrotum, Ventric... OMIM:270400
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Crossed fused renal ectopia, Horseshoe kidney, Abnormal vagi... ORPHA:3097
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomega... OMIM:603554
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Spleno... ORPHA:75233
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Hepatomegaly, Adrenal insu... OMIM:609981
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Adult-Onset Still Disease
Elevated hepatic transaminase, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopat... ORPHA:829
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Cer... OMIM:602782
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Cardiomegaly, Patent foramen ovale, Tetr... OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Ascites, Cardiomegaly, Pericardial constriction OMIM:253250
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom... OMIM:618838
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Cardiomegaly, Ventricular s... OMIM:115197
Oculoskeletodental Syndrome
Cryptorchidism, Hypocalcemia, Mucopolysacchariduria, Hypothyroidism, Hepatomegaly, Hypercalciuria... OMIM:618440
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly ORPHA:79292
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Enlarged kidney, Ventricular septal defect, Polysplenia, Cardiomyopathy, Hepatome... OMIM:312870
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Abnormal erythrocyte morphology, Hypocholesterolemia, D... ORPHA:96180
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Hy... ORPHA:30391
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Jaundice, Hepatomegaly, Type I... ORPHA:290
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Elevated hepatic transaminase,... OMIM:269700
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Abnormal heart morpholog... ORPHA:398124
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Gaucher Disease Type 1
Cirrhosis, Hematuria, Pericardial effusion, Biliary tract obstruction, Pancytopenia, Thrombocytop... ORPHA:77259
8P11.2 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Azoospermia, Hemolytic anemia, Splenomegaly, Hypoplasia of ... ORPHA:251066
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Mitral valve prolapse, Ventricular septal defec... ORPHA:500095
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Refsum Disease, Classic
Elevated levels of phytanic acid, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Unilater... OMIM:216360
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Hyperechogenic kidneys, Ventricul... OMIM:614576
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Jaundice,... ORPHA:381
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Ane... OMIM:612714
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Elevated hepatic transaminase,... OMIM:608594
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Macrocy... OMIM:619046
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Calcinosis, Hypercalc... OMIM:239200
Immunodeficiency 32B
Splenomegaly OMIM:226990
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Elevated circulating creatinine concentration, Hyperuricemia, Biliary tra... OMIM:137920
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Ascites, Cardiomegaly, Hypospadias, Micropenis, Hypert... OMIM:616897
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Hypoalbuminemia, ... ORPHA:255249
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Myocarditis, Lymphopenia, Hyponatremia, Jaundice, Hepatiti... ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy OMIM:619051
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Familial Mediterranean Fever
Peritonitis, Pericarditis, Renal amyloidosis, Leukocytosis, Orchitis, Elevated circulating amyloi... OMIM:249100
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pulmonic stenosis, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal renal physiology, Elevat... ORPHA:540
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Lymphadenopathy, Hepatomegaly, Splenomeg... OMIM:616651
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Mevalonic Aciduria
Splenomegaly ORPHA:29
Pearson Syndrome
Hypocalcemia, Proteinuria, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemi... ORPHA:699
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Hepat... ORPHA:39041
Hypocomplementemic Urticarial Vasculitis
Hematuria, Abnormal heart valve morphology, Pericardial effusion, Glomerulopathy, Hepatomegaly, A... ORPHA:36412
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hyperuricemia, Testicular atrophy, Hyperuricosuria, Nephrolithiasis OMIM:300322
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:232300
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... ORPHA:470
Muckle-Wells Syndrome
Renal amyloidosis, Nephropathy, Hepatomegaly, Delayed puberty, Splenomegaly, Anemia, Nephrotic sy... ORPHA:575
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Hypocholesterolemia, Hypoplastic labia majora, C... OMIM:244450
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Decreased serum insulin-like growth factor 1, Abnormal he... ORPHA:77293
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Impotence, Cardiomegaly, Cardiomyopathy OMIM:105210
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car... ORPHA:391428
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Aredyld Syndrome
Abnormality of the ureter, Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Spl... ORPHA:1133
Sandhoff Disease
Impotence, Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Hypoalbuminemia, Renal insufficiency, Cirrhosis, Acute hepatic failure, Ab... ORPHA:171
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hypothyroidism, Thrombocytopenia, Hepatomegaly, Prolonged neonatal... OMIM:225750
Fucosidosis
Vacuolated lymphocytes, Oligosacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:608799
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mell... ORPHA:96191
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Cardiomyopathy ORPHA:3386
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia... ORPHA:280365
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Alpha-Mannosidosis
Hepatomegaly, Type II diabetes mellitus, Splenomegaly ORPHA:61
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatic failure, Hep... OMIM:608013
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutropenia, Th... ORPHA:47612
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Sialuria
Hypoplastic nipples, Splenomegaly, Hepatomegaly OMIM:269921
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Elevated... ORPHA:1451
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria OMIM:619259
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Goiter, Elevated hepatic transaminase, Increased c... ORPHA:525731
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Coronary artery stenosis, Vacuolated lymphocytes, Hepatomegaly, Pan... ORPHA:565612
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Fetal ascites, Sea-blue histiocytosis, Pr... OMIM:257220
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Scrub Typhus
Renal insufficiency, Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Q Fever
Hematuria, Elevated hepatic transaminase, Pericarditis, Endocarditis, Abnormal heart valve morpho... ORPHA:781
Meckel Syndrome, Type 1
Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, Abnormality of the uterus, Accessory s... OMIM:249000
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Abnormal heart valve morphology, Abnormality of the urinary system, Hepat... OMIM:230500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve stenosis, Hypersplenism,... OMIM:230800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Oligosacchariduria, Hepatomegaly, Le... ORPHA:308552
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... ORPHA:309854
Gaucher Disease Type 3
Hematuria, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Pan... ORPHA:77261
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated hepatic transaminase, Abnormal heart morphology, Hepatomegaly, Jaund... OMIM:608779
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Acute hepatic failure, Nephropathy, Nephrotic syndrome, Asci... ORPHA:342
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hepatomegaly, Hypereosinophilia, Elevated circulating C... OMIM:617388
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Spleno... OMIM:616028
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Prolonged neonat... OMIM:170100
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Spleno... ORPHA:90033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Hypertriglyceridemia,... OMIM:617591
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Aminoaciduria, Sideroblastic anemia, B lymphocytopenia, Splenomega... OMIM:616084
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly, Hepatomegaly ORPHA:92
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252940
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly, Abnormal external genitalia ORPHA:3473
Short-Rib Thoracic Dysplasia 15 With Polydactyly