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Gene: Pstpip1 MGI:1321396

Gene Summary

Name:

proline-serine-threonine phosphatase-interacting protein 1

Synonyms:

def-2, CD2BP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
lordosis	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.31×10^-05
abnormal spleen morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal liver morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating total protein level	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.20×10^-06
increased CD4-positive, alpha-beta T cell number	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.18×10^-05
enlarged thymus	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal kidney morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased kidney weight	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.84×10^-06
decreased circulating potassium level	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.31×10^-05
enlarged liver	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased T-helper cell number	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.90×10^-05

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X-ray

XRay Images Hind Leg and Hip

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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.

Human diseases associated with Pstpip1 (2 diseases)
Human diseases predicted to be associated with Pstpip1 (1080 diseases)

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	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<

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Gene: Pstpip1 MGI:1321396

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lacZ Expression

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Human diseases caused by Pstpip1 mutations