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Gene: Pstpip1 MGI:1321396

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Gene Summary

Name:
proline-serine-threonine phosphatase-interacting protein 1
Synonyms:
def-2,  CD2BP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased T-helper cell number Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.80×10-05
increased kidney weight Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.64×10-07
decreased circulating potassium level Pstpip1em1(IMPC)Ccpcz HOM Early adult 5.31×10-05
abnormal kidney morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged liver Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating total protein level Pstpip1em1(IMPC)Ccpcz HOM Early adult 6.20×10-06
increased CD4-positive, alpha-beta T cell number Pstpip1em1(IMPC)Ccpcz HOM Early adult 3.74×10-05
abnormal liver morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
lordosis Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.29×10-05
abnormal thymus morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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XRay Images Forepaw

16 Images

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Human diseases caused by Pstpip1 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.

The table below shows human diseases associated to Pstpip1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci... OMIM:604416
Papa Syndrome
Increased circulating antibody level ORPHA:69126

The table below shows human diseases predicted to be associated to Pstpip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Vertebral compre... ORPHA:29073
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Myosclerosis, Autosomal Recessive
Spinal rigidity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kin... OMIM:255600
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Scoliosis, Kyphosi... OMIM:300718
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... OMIM:611590
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Scoliosis, Cryptorchidism, Elevated circulating creatine kinase concentration ORPHA:408
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Kyphosis, Spinal ri... OMIM:617404
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Cryptorchidism... OMIM:235255
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalc... ORPHA:1655
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie... ORPHA:90362
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:369840
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:600175
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Reduce... OMIM:607271
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Dengue Fever
Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocyt... OMIM:226300
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Leptospirosis
Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ... ORPHA:509
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Lef... ORPHA:206546
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Isolated Polycystic Liver Disease
Increased total bilirubin, Back pain, Multiple renal cysts, Hepatomegaly, Polycystic liver diseas... ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure... ORPHA:247585
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc... OMIM:276700
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cryptorchidism, Proteinuria, Hyperlordosis, Anemia, Nephrotic syndrome ORPHA:1192
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Kaposiform Lymphangiomatosis
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Abnormal t... ORPHA:464329
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:62
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leuk... OMIM:617303
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:614727
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615290
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen... ORPHA:353
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:1802
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Elevated creatine kinase after exercise ORPHA:352470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy,... OMIM:613156
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Platyspondyly, Elevated circulating hepatic transaminase concentration... OMIM:618641
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circu... OMIM:614034
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... OMIM:602557
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Decreased proportion of CD4-positi... OMIM:619374
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadi... ORPHA:2522
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... ORPHA:79333
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Diffuse Neonatal Hemangiomatosis
Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly, H... ORPHA:2123
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Elevated circulating creatine k... OMIM:160500
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Kyphosis, Splenomegaly, Hepatomegaly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
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, Thrombocy... OMIM:616689
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a... OMIM:618495
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Spinal can... ORPHA:93476
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Congenital Myopathy 2A, Typical, Autosomal Dominant
Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:161800
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hydronephrosis, Anemia, Hypoplasia of penis, Hypospadias, Hypo... ORPHA:2315
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Short neck, Pancreatic fibrosis, Hepatomegaly, Enlarged k... OMIM:200995
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Spinal rigidity, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:609308
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain ORPHA:56425
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Enlarged kidney, Nephroblastoma OMIM:618272
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Co... OMIM:269920
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:618129
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Hemophagocytosis, Increased circulating fer... ORPHA:158061
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,... OMIM:606069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration,... OMIM:611489
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He... ORPHA:167
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated... OMIM:615158
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Hyperlipidemia, Hepatic steatosis... OMIM:615980
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Hepatosplenomegaly, S... ORPHA:93352
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... OMIM:226990
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:267
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Anemia, Elevated ci... ORPHA:457077
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocyto... ORPHA:79312
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz... OMIM:300908
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... OMIM:619377
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype... OMIM:601859
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Chondroitin sulfate excretion in uri... OMIM:253000
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, E... ORPHA:26791
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Diaphanospondylodysostosis
Unossified sacrum, Delayed vertebral ossification, Nephrogenic rest, Horseshoe kidney, Nephroblas... OMIM:608022
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,... OMIM:619644
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Decreased liver function, ... ORPHA:231222
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Generalized aminoaciduria, Ketonuria, Beta 2-microglobuli... OMIM:227810
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Elevate... OMIM:613327
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... OMIM:604278
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Cryptorchidism OMIM:608093
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J... ORPHA:108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Sialidosis Type 2
Nephropathy, Ascites, Splenomegaly, Hepatomegaly, Kyphosis ORPHA:87876
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Meckel Syndrome, Type 8
Short neck, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno... OMIM:610333
Joubert Syndrome 37
Decreased testicular size, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, Micropenis, Hepa... OMIM:619185
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... OMIM:617396
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Hepatic steatosis, El... ORPHA:52430
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis, Splenomegaly OMIM:602271
Myasthenic Syndrome, Congenital, 14
Hyperlordosis, Scoliosis, Mildly elevated creatine kinase OMIM:616228
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Hyperlordosis, Scoliosis, Thoracic kyphosis ORPHA:557003
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
King-Denborough Syndrome
Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Elevated circulating creatine kin... OMIM:619542
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Foll... OMIM:603909
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... OMIM:600462
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left ventricular hypert... ORPHA:86812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function ORPHA:570422
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Pancreatitis, Thrombocyto... ORPHA:289916
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Pancytopenia, Portal hypertension, Splenomegaly, Increased vertebral he... OMIM:613385
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Abno... ORPHA:449395
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Heparan sulfate excretion in urine, Leukopenia, Hep... ORPHA:505248
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Increased vertebral height, Cryptorchidism, Kyph... OMIM:616817
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir... ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral fusion, Scoliosis, K... OMIM:606612
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria OMIM:602722
Cystinosis
Nephropathy, Aminoaciduria, Portal hypertension, Renal insufficiency, Renal tubular dysfunction, ... ORPHA:213
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly OMIM:620210
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration, Hyperlordosis... OMIM:607155
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Nemaline Myopathy 2
Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:256030
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Mem... ORPHA:251004
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Scoliosis, Right ventricular hypertrophy, Elevated circulating creatine kinase con... OMIM:253700
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Myopathy, Centronuclear, 1
Hyperlordosis, Mildly elevated creatine kinase OMIM:160150
Hypochondroplasia
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615156
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine... OMIM:618805
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function OMIM:614870
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Platyspondyly, Bilateral cryptorchidism, Lymphopenia, Pancyto... OMIM:242900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Fucosidosis
Anterior beaking of thoracic vertebrae, Oligosacchariduria, Cervical platyspondyly, Lumbar hyperl... OMIM:230000
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Hypocalcemia, Cryptorchidism, Mucopolysacchariduria, Hypercalciuria... OMIM:618440
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperlordosis, Kyphosis ORPHA:3085
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Colchicine Poisoning
Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre... ORPHA:31824
Vipoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... ORPHA:97282
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis OMIM:222600
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain, Elevated circulating creatine kinase concentration OMIM:167320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613157
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombo... ORPHA:27
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation OMIM:618042
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... ORPHA:480520
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... OMIM:256050
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
Facioscapulohumeral Dystrophy
Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:269
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... ORPHA:234
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H... OMIM:619048
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Ascites, Elevated circulating aspartate aminotransferase concentrat... OMIM:619573
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253010
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:85414
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity ORPHA:157973
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies ORPHA:63446
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb... OMIM:264180
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifida occulta, Abnormal sacrum m... ORPHA:1797
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hyperlordosis, Scoliosis, Cryptorchidism ORPHA:1387
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Short neck, Mucopolysacchariduria, Hyperlordosis, Scoliosis,... OMIM:252605
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ... ORPHA:86843
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... OMIM:232400
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... OMIM:224120
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Mic... OMIM:613861
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Hyperlordosis, Thrombocytopenia OMIM:619980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlip... ORPHA:79259
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele... ORPHA:254864
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia ORPHA:35
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria OMIM:613677
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Abnormality of... ORPHA:168569
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Irregular vertebral endplates OMIM:618363
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Scoliosis, Elevated circulating creatine kinase concentration OMIM:615704
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... OMIM:613489
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Short neck, Hepatomegaly, Polycystic... OMIM:608776
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk... OMIM:615673
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Mirage Syndrome
Hypospadias, Scoliosis, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia... OMIM:617053
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:605479
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytos... OMIM:620565
Congenital Myopathy 10B, Mild Variant
Abnormal circulating creatine kinase concentration, Elevated circulating creatine kinase concentr... OMIM:620249
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714