Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
lordosis Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.31×10-05
abnormal spleen morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal liver morphology 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 4.18×10-05
enlarged thymus Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
increased kidney weight Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.84×10-06
decreased circulating potassium level Pstpip1em1(IMPC)Ccpcz HOM Early adult 5.31×10-05
enlarged liver Pstpip1em1(IMPC)Ccpcz HOM Early adult 0.00
increased T-helper cell number Pstpip1em1(IMPC)Ccpcz HOM Early adult 1.90×10-05

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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

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

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
Hepatosplenomegaly, Sterile abscess, Microcytic anemia, Pancytopenia, Elevated circulating C-reac... 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
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Elevated hepatic transaminase, Hypertri... ORPHA:158048
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Multiple Myeloma
Acute kidney injury, Anemia, Hyperproteinemia, Nephropathy, Nephrotic syndrome, Abnormality of th... ORPHA:29073
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Reticular Dysgenesis
Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell function, Congenital agranulocy... OMIM:267500
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis... OMIM:620010
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... OMIM:613496
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Elevated circulating aspartate aminotransferase concentration, Acholic stools, Elevated... OMIM:619868
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... OMIM:267700
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic stea... OMIM:614480
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Type 2B
Elevated transferrin saturation, Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transam... OMIM:613313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Galactosemia Iii
Jaundice, Galactosuria, Hypergalactosemia, Hepatomegaly, Aminoaciduria, Splenomegaly OMIM:230350
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, El... ORPHA:398063
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration... OMIM:255600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... OMIM:603553
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Nephrocalcinosis, Hemolytic anemia, Decreased mean corpuscul... OMIM:611590
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Scoliosis, Leukocytosis, Anemia, Cholestasis, Hepatic fibrosis, Lymphadenitis, H... OMIM:615895
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... OMIM:616217
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Short neck, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigid... OMIM:300718
Isolated Glycerol Kinase Deficiency
Scoliosis, Cryptorchidism, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:408
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:619658
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Increased serum bile aci... OMIM:616278
Tyrosinemia Type 1
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaci... ORPHA:882
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... ORPHA:40
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlo... OMIM:617404
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Hypoproteinemia, Cryptorchidism, Micropenis, Pulmonary lymphangiectasia, Short ne... OMIM:235255
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:269600
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... OMIM:263200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hydronephrosis, Hypoproteinemia, Cryptorchidism, Abnormal renal morphology, M... ORPHA:1655
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Peritoneal effusion, Lymph... ORPHA:90362
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:600175
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... OMIM:615382
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Conjug... OMIM:214900
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... OMIM:208540
Splenoportal Vascular Anomalies
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... OMIM:271500
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue h... OMIM:607616
Sandhoff Disease
Kyphosis, Hepatomegaly, Splenomegaly ORPHA:796
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... ORPHA:100024
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Harderoporphyria
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Dengue Fever
Hypoproteinemia, Leukopenia, Hepatomegaly, Thrombocytopenia, Ascites ORPHA:99828
Nephrotic Syndrome, Type 22
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial instability, Atlant... OMIM:600561
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... OMIM:613095
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites ORPHA:100025
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:79238
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Anemia, Hepatomegaly, Ascites, Thrombocytosis, Iron deficiency anemia, Intestina... OMIM:226300
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Leptospirosis
Jaundice, Acute kidney injury, Hyperproteinemia, Hepatomegaly, Hepatitis, Thrombocytopenia, Lymph... ORPHA:509
Amyloidosis, Familial Visceral
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly OMIM:105200
Immunodeficiency 43
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... OMIM:241600
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... OMIM:615415
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Trimethylaminuria
Splenomegaly, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Reduced natural kil... OMIM:614493
Isolated Polycystic Liver Disease
Multiple renal cysts, Hepatomegaly, Increased total bilirubin, Back pain, Abnormality of the panc... ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Micronodular cirrhosis, Hepatic steatosis,... OMIM:301045
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Thoracic kyphosis, Left ventricular hypertrophy, Elevated circulating creat... ORPHA:206546
Citrullinemia Type Ii
Enuresis, Hypoproteinemia, Hepatocellular carcinoma, Acute hyperammonemia, Pancreatitis, Hepatic ... ORPHA:247585
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Spondylitis, Glomerulonephritis, Autoimmun... OMIM:619375
Tyrosinemia, Type I
Hepatocellular carcinoma, Acute hepatic failure, Nephrocalcinosis, Enlarged kidney, Anemia, Eleva... OMIM:276700
Glycogen Storage Disease Vi
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hepatic failure, Hyperchol... ORPHA:75234
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... OMIM:609223
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... ORPHA:79301
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Elevated hepatic transaminase, Cirrhosis, Reduced serum alpha-1-antitry... OMIM:613490
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Aa Amyloidosis
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... ORPHA:85445
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Immunodeficiency 76
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... OMIM:602347
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... OMIM:232220
Nephrotic Syndrome, Type 1
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici... OMIM:256300
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase OMIM:617068
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:62
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Hypocalcemia, Hepat... OMIM:612526
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Anemia, Nephropathy, Nephrotic syndrome, Hyperlordosis ORPHA:1192
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal sacrum morphology, Enlarged kidn... ORPHA:464329
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatome... OMIM:615234
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Short neck, Bone marrow ... OMIM:617303
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, I... OMIM:300635
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hypertriglyceridemia, H... OMIM:306000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Sple... OMIM:602390
Heme Oxygenase 1 Deficiency
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Elevated circulating aspartate... OMIM:614034
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... ORPHA:730
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Hemophagocytosis, Anemia... ORPHA:158057
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hypoplas... OMIM:618641
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615290
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syndrome, Elevate... OMIM:614727
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Scoliosis, Lumbar hyperlordosis, Elevated circulating creatine ki... ORPHA:353
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Splenomegaly, Anemia ORPHA:1802
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:618528
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Hyperlordosis ORPHA:352470
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Elevated circulating a... OMIM:605911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Cryptorchidism, Micropenis, Left ventricular hypertrophy, Elevated circulating creatin... OMIM:613156
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Lumbar hyperlordosis, Central vertebral hypoplasia, Short neck, Hepatomegaly, Vertebra... OMIM:602557
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp... OMIM:601198
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hep... OMIM:266200
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocyt... OMIM:308240
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Abnormality of the ureter, Abnormal reticulocyte morphology, Kyphosis, Fused cervical... ORPHA:2522
Obsolete: Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome
Hyperlordosis ORPHA:2292
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... ORPHA:93109
Cog7-Cdg
Hepatosplenomegaly, Jaundice, Abnormality of the kidney, Short neck, Hepatomegaly, Elevated hepat... ORPHA:79333
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatosplenomegaly, Acute hepatic failure, Increased LDL cholesterol concentration,... OMIM:278000
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Atretic gallbladder, Bile duct proliferation, Hepato... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Diffuse Neonatal Hemangiomatosis
Anemia, Renal insufficiency, Hepatomegaly, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalce... ORPHA:2123
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Hepatic Veno-Occlusive Disease
Jaundice, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase, Increased total bilir... ORPHA:890
Burkitt Lymphoma
Hyperuricemia, Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology... ORPHA:543
Myopathy, Distal, 1
Mildly elevated creatine kinase, Scoliosis, Lumbar hyperlordosis, Elevated circulating creatine k... OMIM:160500
Coproporphyria, Hereditary
Jaundice, Increased urinary porphobilinogen, Hepatomegaly, Elevated urinary delta-aminolevulinic ... OMIM:121300
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis OMIM:611067
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... ORPHA:158061
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Recurrent urinary ... ORPHA:731
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... OMIM:617394
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis OMIM:607088
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:300853
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugat... OMIM:601847
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Short neck, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cy... OMIM:200995
Congenital Myopathy 16
Scoliosis, Lumbar hyperlordosis, Spinal rigidity OMIM:618524
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia OMIM:620152
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoproteinemia, Exocrine pancreatic insufficiency, Anemia, Hypoplasia of penis, ... ORPHA:2315
Hurler-Scheie Syndrome
Hepatomegaly, Spinal canal stenosis, Abnormality of the tonsils, Abnormal vertebral morphology, S... ORPHA:93476
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis OMIM:619042
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia ORPHA:28
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hyperammonemia, Splenomegaly, Aminoaciduria ORPHA:664
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:369840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity OMIM:609308
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatom... OMIM:618495
Congenital Myopathy 2A, Typical, Autosomal Dominant
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:161800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Sacral dimple, Kyphosis, Enlarged kidney OMIM:618272
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... OMIM:179800
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Jaundice, Hemophagocytosis, Anemia, ... ORPHA:167
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly ORPHA:56425
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:507
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia, Cardiome... OMIM:269920
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Galactosemia I
Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Galactosuria, El... OMIM:230400
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Hemochromatosis, Type 4
Elevated transferrin saturation, Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis, Increased ci... OMIM:606069
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyper... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinem... OMIM:235555
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Alaninuria, Elevated c... OMIM:615158
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Elevated circulating creatine kinase concentration, Back pain OMIM:618129
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulating creatine kin... OMIM:615980
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity ORPHA:267
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Elevated circulating thyroid-stimulating hormone con... OMIM:617872
Mucolipidosis Iii Gamma
Scoliosis, Short neck, Kyphosis, Increased serum beta-hexosaminidase, Hyperlordosis OMIM:252605
Fucosidosis
Vacuolated lymphocytes, Scoliosis, Lumbar hyperlordosis, Oligosacchariduria, Hepatomegaly, Anteri... OMIM:230000
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypertriglycerid... OMIM:613027
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract... OMIM:619802
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... OMIM:207750
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... ORPHA:231222
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Abnorm... ORPHA:848
Nemaline Myopathy 2
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:256030
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf... OMIM:613812
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... ORPHA:79477
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatosplenomegaly, Scoliosis, Central vertebral hypoplasia, Short neck, Vertebral compression fr... ORPHA:93352
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Cholecysti... OMIM:235700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Spleno... ORPHA:79312
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Proteinuria, Abnormality of the kidney, Hepatic fibrosis, Hepatomegaly,... ORPHA:369
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Acute hepatic failure, Hemophagocytosis, Hemolytic-uremic syndrome, Renal ins... OMIM:619644
Diaphanospondylodysostosis
Enlarged kidney, Short neck, Horseshoe kidney, Unossified sacrum, Nephroblastomatosis, Absent in ... OMIM:608022
Caroli Disease
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... ORPHA:53035
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Ascites, Spleno... ORPHA:1046
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, Hypokalemia,... OMIM:604278
Osteootohepatoenteric Syndrome
Proteinuria, Anemia, Cholestasis, Hepatic fibrosis, Hypokalemia, Prolonged neonatal jaundice, Inc... OMIM:619377
Fanconi-Bickel Syndrome
Proteinuria, Hypophosphatemia, Glycosuria, Intrahepatic cholestasis, Beta 2-microglobulinuria, Hy... OMIM:227810
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:262
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Jaundice, Cryptorchidism, Elevated hepatic transaminase OMIM:608093
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Hyperammonemia, Elevated circulating acylcarnitine concentration, He... ORPHA:26791
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Jaundice, Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated ... ORPHA:26793
Liddle Syndrome
Renal insufficiency, Nephropathy, Hypokalemia ORPHA:526
Schimke Immuno-Osseous Dysplasia
Microscopic hematuria, Proteinuria, Decreased proportion of naive CD8 T cells, Lumbar hyperlordos... ORPHA:1830
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney, Short neck OMIM:613885
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm... OMIM:619463
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... OMIM:610717
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Nephrocalcinosis, Calcinosis, Renal artery stenosis, Hypokalemia, Hyponatremia, H... OMIM:617913
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase conc... OMIM:613327
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... ORPHA:400
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag... ORPHA:564178
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alp... OMIM:619662
Sialidosis Type 2
Hepatomegaly, Kyphosis, Nephropathy, Splenomegaly, Ascites ORPHA:87876
Babesiosis
Jaundice, Leukopenia, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Hepa... ORPHA:108
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Joubert Syndrome 37
Hydronephrosis, Decreased testicular size, Cryptorchidism, Lumbar hyperlordosis, Micropenis, Hepa... OMIM:619185
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Elevated circulating ... ORPHA:52430
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Pancytopenia, ... OMIM:610333
Mucopolysaccharidosis, Type Iva
Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Hepatomegaly, Kyphosis, Plat... OMIM:253000
Intellectual Developmental Disorder, Autosomal Dominant 23
Scoliosis, Sacral dimple, Kyphosis, Hyperlordosis, Hypospadias OMIM:615761
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... OMIM:182900
Liver Disease, Severe Congenital
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... OMIM:619991
Pearson Syndrome
Hypoparathyroidism, Hyperalaninemia, Hepatomegaly, Hypokalemia, Lacticaciduria, Hypomagnesemia, P... ORPHA:699
Diastrophic Dysplasia
Scoliosis, Lumbar hyperlordosis, Cervical kyphosis, Hypoplastic cervical vertebrae, Kyphoscoliosis OMIM:222600
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Galactose Mutarotase Deficiency
Cholestasis, Hypergalactosemia, Hepatomegaly, Decreased liver function ORPHA:570422
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Cervical spine instability, Short neck, Ovoid vertebral bo... OMIM:617396
Oculoskeletodental Syndrome
Scoliosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Hyperlordosis, Hypercalcemia ORPHA:557003
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... OMIM:232200
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Myasthenic Syndrome, Congenital, 14
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma... OMIM:618314
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Conjugated hyperbilirubi... OMIM:211600
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis, Splenomegaly OMIM:602271
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Renal tubular dysfunctio... ORPHA:289916
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum... OMIM:241150
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Proteinuria, Lumbar hyperlordosis, Leukop... ORPHA:505248
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Sclerotic vertebral endplates, Thrombocytopenia, Splenomegaly OMIM:611490
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Polycythemia, Anemia,... ORPHA:88673
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
King-Denborough Syndrome
Scoliosis, Cryptorchidism, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Elevated circulat... OMIM:619542
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia... OMIM:600462
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... OMIM:616050
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegal... OMIM:300400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc... OMIM:609981
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Elevated circulating creatine kina... ORPHA:86812
Adult-Onset Still Disease
Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis, Bone marrow ... ORPHA:829
Cystinosis
Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubular dysfu... ORPHA:213
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria OMIM:602722
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Increased vertebral height, Kyphoscoliosis, Abnormal vertebral morphology, Hyperl... OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Hyperl... OMIM:606612
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Hepatomegaly, Splenomegaly, Anemia OMIM:618107
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Elevated hepatic transaminase, Cirrho... OMIM:235200
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hepatosplenomegaly, Reticulocytosis, M... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopathy,... ORPHA:858
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Leukopenia, Hepatomegaly, Lymphopenia, Splenomegaly OMIM:620210
Schimke Immunoosseous Dysplasia
Proteinuria, Lumbar hyperlordosis, Stage 5 chronic kidney disease, Thoracic kyphosis, Anemia, Sho... OMIM:242900
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u... ORPHA:251004
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... OMIM:616649
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Ck Syndrome
Abnormal circulating cholesterol concentration, Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... OMIM:618398
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... ORPHA:139507
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt... OMIM:618805
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Lumbar hyperlordosis, Increased vertebral height, Thoracic kyphoscoliosis, Hepatomegaly, Hepatiti... OMIM:613385
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... OMIM:251880
Glycogen Storage Disease Xii
Reduced haptoglobin level, Jaundice, Normocytic anemia, Anemia, Short neck, Elevated circulating ... OMIM:611881
Hypochondroplasia
Spinal canal stenosis, Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:429
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Hypokalemia, Anemia OMIM:611489
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Right ventricular h... OMIM:253700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Caroli Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Leukocytosis, Hepatomegaly, Conjugated hy... ORPHA:480520
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Bartter Syndrome, Type 5, Antenatal, Transient
Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... OMIM:300971
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Exercise-induced myoglobinuria, Kyphosis, Elevated circulating creat... OMIM:607155
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hyperlordosis ORPHA:3085
Bile Acid Conjugation Defect 1
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:619232
Wolcott-Rallison Syndrome
Acute hepatic failure, Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Chronic kidne... ORPHA:1667
Colchicine Poisoning
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Renal insufficiency, Hypokalemi... ORPHA:31824
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair... OMIM:134600
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Decreased plasma free carnitine, Left ventricular hypertrophy, E... OMIM:619048
Vipoma
Elevated circulating growth hormone concentration, Intermittent jaundice, Increased circulating p... ORPHA:97282
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... OMIM:603903
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis OMIM:610687
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... OMIM:205400
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia OMIM:267200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Leukopenia, Abnormality of neutrophils, Bone ... ORPHA:381
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal... ORPHA:79303
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615156
Oculoskeletodental Syndrome
Mucopolysacchariduria, Cryptorchidism, Scoliosis, Thoracic kyphosis, Hepatomegaly, Hypercalciuria... OMIM:618440
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly OMIM:618042
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Back pain OMIM:167320
Facioscapulohumeral Dystrophy
Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:269
Igg4-Related Kidney Disease
Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Decreased liver fu... ORPHA:449395
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormal urinary color, Jaundice, Abnormality of the liver, Hepatomega... ORPHA:234
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613157
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Horizontal sacrum, Increase... OMIM:256050
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Macrocytic a... ORPHA:27
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Elevated hepatic transaminase, Hypermanganesemia, Cirrhosis, Unconjug... OMIM:613280
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... OMIM:243300
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute kidney injury, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemi... ORPHA:90038
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Kyphosis, Mildly elevated creatine kinase, Kyphoscoliosis, Hyperlordosis ORPHA:536516
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Pediatric Hepatocellular Carcinoma
Elevated circulating alpha-fetoprotein concentration, Hepatic fibrosis, Hepatomegaly, Portal vein... ORPHA:33402
Immunodeficiency 87 And Autoimmunity
Jaundice, Decreased CD4:CD8 ratio, Hemolytic anemia, Cervical lymphadenopathy, Cholestasis, Eleva... OMIM:619573
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Hyperconvex vertebral body endplates, Irregular vertebral endplates, Vertebral wedging... ORPHA:1159
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies ORPHA:63446
Alpha-1-Antitrypsin Deficiency
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure ORPHA:60
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... ORPHA:567983
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kina... OMIM:232400
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormality of the vertebral column, Hump-shaped mound of bone in central a... ORPHA:99642
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Spina bifida occulta, Vertebral segmentation d... ORPHA:1797
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Stage 5 chronic kid... ORPHA:79259
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Spinal rigidity ORPHA:157973
Acute Panmyelosis With Myelofibrosis
Low back pain, Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leu... ORPHA:86843
Neuraminidase Deficiency
Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excretion of s... OMIM:256550
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Decreased plasma carnitine, Hepatomegaly, Elevated circulating creatine... OMIM:500009
Propionic Acidemia
Hyperammonemia, Hepatomegaly, Organic aciduria ORPHA:35
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Cryptorchidism, Hyperlordosis ORPHA:1387
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Mildly elevated creatine kinase, Hepatomegaly, Decreased plasma carnitine, Abnormality of the liver ORPHA:254864
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami... ORPHA:905
Gaucher Disease Type 1
Proteinuria, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Kyphosis, Cirrhosis, Ve... ORPHA:77259
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Hepatomegaly, Decreased liver function, Hepatosplenomegaly,... ORPHA:85450
Braddock-Carey Syndrome 1
Thrombocytopenia, Multicystic kidney dysplasia, Hyperlordosis OMIM:619980
H Syndrome
Hepatosplenomegaly, Decreased testicular size, Abnormality of the kidney, Micropenis, Enlarged ki... ORPHA:168569
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Pseudodiastrophic Dysplasia
Scoliosis, Lumbar hyperlordosis, Short neck, Tongue-like lumbar vertebral deformities, Platyspond... OMIM:264180
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Left ventricular hypertrophy, Renal insufficiency, Hypokalemia, Renal sodium wa... ORPHA:320
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Irregular vertebral endplates, Coronal cleft vertebrae, Kyphoscoliosis, Hyperlordosis OMIM:618363
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Hepatic failure, Splenomegaly, Ascites ORPHA:75233
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Anemia, Hepatomegaly, Hypercalciuria, Primary hyperparathyroidism, ... OMIM:239200
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia OMIM:616589
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Mucopolysaccharidosis, Type Ivb
Scoliosis, Ovoid vertebral bodies, Cervical subluxation, Hepatomegaly, Kyphosis, Platyspondyly, K... OMIM:253010
Cystinosis, Nephropathic
Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fancon... OMIM:219800
Myopathy With Extrapyramidal Signs
Leukocytosis, Short neck, Hypervalinemia, Hepatomegaly, Elevated hepatic transaminase, Elevated c... OMIM:615673
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Abnormal renal physiology, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatom... ORPHA:540
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell function, T lymph... ORPHA:277
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic failure, Splenomegaly OMIM:613489
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... OMIM:255120
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Short neck, Hepatomegaly, Kyphosis, Ascites OMIM:608776
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis OMIM:618234
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Scoliosis, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615704
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824<