Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CCAAT/enhancer binding protein (C/EBP), alpha
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cebpa 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 Cebpa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Recurrent otitis media, Neutropenia, Thrombo... OMIM:617475
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Pancytopenia, Hepatomegaly, Hepatic failure, Vomiting OMIM:617872
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Death in infancy, Hyp... OMIM:617156
Generalized Eruptive Histiocytosis
Elevated total serum tryptase, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Increased circulating lactate dehydrogenase... ORPHA:86841
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:615238
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Myelodysplasia, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Ecz... OMIM:616871
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LD... OMIM:615703
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Hypersplenism, Bone-marrow foam c... OMIM:278000
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Bronchiectasis, Lymphadenitis, Lymphopenia, Recurrent otitis me... OMIM:618986
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Diarrhea, Neutropenia OMIM:613501
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis OMIM:613877
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Helicobacter pylori infection, Lymphopenia, Neutropenia, Recurrent ap... ORPHA:2688
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Babesiosis
Hemolytic anemia, Nausea and vomiting, Anorexia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukop... ORPHA:108
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Anorexia, Pancytopenia, Decreased liver function, Diarrhea,... ORPHA:98850
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circula... OMIM:615980
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jau... OMIM:616278
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Wolman Disease
Bone-marrow foam cells, Malnutrition, Hepatomegaly, Ascites, Anemia, Splenomegaly, Nausea and vom... ORPHA:75233
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Verrucae, Neutropenia OMIM:614868
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Refractory Anemia
Erythroid hypoplasia, Myelodysplasia, Single lineage myelodysplasia, Neutropenia, Normocytic anem... ORPHA:98826
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glutathione Synthetase Deficiency
Reduced glutathione synthetase level, Hemolytic anemia, Neutropenia OMIM:266130
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder, Reduced leukocyte alkaline phosphatase OMIM:254700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Primary Myelofibrosis
Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased circulating lac... ORPHA:824
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Immunodeficiency 55
Myelodysplasia, Neutropenia, Diarrhea, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent pneumonia OMIM:613502
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hepatomeg... OMIM:616828
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Hemangioma, Myelodysplasia, Abdominal pain, Lymphopenia, Leukemia, Periodontitis, Ne... ORPHA:486
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Maculopapular exanthema,... ORPHA:398124
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity OMIM:614743
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Eczema, Otitis media, Lymphad... OMIM:608971
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation,... ORPHA:90117
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71526
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Diarrhea, Abnormal mast cell morphology, Neutrophilia, Lymphaden... ORPHA:98849
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Diarrhea, Hepatic failure, Splenomegaly, Nausea and vomiting ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Death in infancy, Aminoaciduria, H... OMIM:619386
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Feeding difficulties OMIM:616271
Short Stature Due To Ghsr Deficiency
Growth delay, Abnormality of body weight, Hypoglycemia, Decreased body weight, Delayed puberty, S... ORPHA:314811
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, ... OMIM:259720
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Ketotic hypoglycemia, Hepatic steatosis, Intrauterine g... ORPHA:26792
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, ... ORPHA:3226
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Hypophosphatemic rickets, Hepatocellu... OMIM:276700
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Conjuncti... OMIM:616740
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Extramedull... ORPHA:822
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Chronic diarrhea, Ne... OMIM:304790
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Feeding difficulties, Abdominal pain, Neutropenia, Anorexia, Thrombocytopeni... ORPHA:79312
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Nausea, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant h... OMIM:618549
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Feeding difficulties, Chronic diarrhea, Hepatomegaly, E... OMIM:613489
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Hypoglycemia, Anemia OMIM:610090
Protoporphyria, Erythropoietic, 1
Hepatic failure, Eczema, Hemolytic anemia, Cholelithiasis OMIM:177000
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function, Hypoglycemia ORPHA:67048
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Coma, Hyperammonemia, Lethargy, Elevated hepatic transaminase, Hepati... OMIM:212140
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
3-Methylglutaconic Aciduria Type 1
Coma, Dystonia, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Coma, Hypoalbuminemia, Hyperactivity, Elevated p... ORPHA:247585
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Insulin-resistant di... ORPHA:280356
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis,... ORPHA:292
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Myelodysplasia, Gastroesophageal reflux, Pancytopenia, Aplastic anem... OMIM:614742
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Feeding difficulties in infancy... OMIM:618752
Poikiloderma With Neutropenia
Recurrent otitis media, Increased circulating lactate dehydrogenase concentration, Recurrent sinu... OMIM:604173
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Abdominal pain, Leukocytosis, Myocarditis... ORPHA:829
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Gaucher Disease Type 2
Dystonia, Respiratory distress, Dysphagia, Abnormal pattern of respiration, Flexion contracture, ... ORPHA:77260
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Diarrhea, Anemia, Splenomegaly, Hepatosple... OMIM:618963
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Diarrhea, Splenomegaly, Lympha... OMIM:618495
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Nausea and vom... ORPHA:79477
Ebola Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Thrombocytopenia, ... ORPHA:319218
Mantle Cell Lymphoma
B-cell lymphoma, Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Elevate... OMIM:255120
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus OMIM:598500
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Ataxia, Hypoglycemia, Short stature, Hypogonadism OMIM:616113
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Aniso... OMIM:616860
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketoti... ORPHA:276608
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increa... OMIM:600649
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circula... OMIM:235555
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Chronic diarrhea, Colitis, B-cell lymphoma, ... OMIM:619164
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic diarrhea, Chronic otitis media, Neutropenia, Thrombocytop... ORPHA:47
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Pancytopenia, Thromboc... OMIM:259710
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Stomatitis, T... OMIM:308230
N Syndrome
Neoplasm, Leukemia OMIM:310465
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:79085
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Erythroderma, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Decreased liver function, Eczema ORPHA:79278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Nausea and vomiting ORPHA:289916
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Leukemia, Myelodysplasia OMIM:614038
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive ORPHA:181393
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... ORPHA:846
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Hepatic steatosis, Cough, Abnormal... OMIM:619013
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Chronic diarrhea,... OMIM:619281
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hypoglycemia, Leucine-Induced
Coma, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia, Drowsiness OMIM:240800
Immunodeficiency 36
Bronchiectasis, Lymphopenia, Chronic diarrhea, Chronic lymphatic leukemia, B-cell lymphoma, Splen... OMIM:616005
Classic Galactosemia
Elevated hepatic transaminase, Feeding difficulties, Hypoglycemia, Hepatomegaly, Jaundice, Diarrh... ORPHA:79239
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Thrombocytopenia, ... OMIM:611126
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Failur... OMIM:602579
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Neutropenia, Microcytic anemia OMIM:251900
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Temple Syndrome
Hypercholesterolemia, Overweight, Hypertriglyceridemia, Truncal obesity, Small for gestational age OMIM:616222
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Decreased liver function, Sideroblastic anemia OMIM:617021
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocel... OMIM:619151
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Jaundice, Anemia, Hepatosplenom... OMIM:246400
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Elevated plasma branched cha... ORPHA:2394
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Respiratory distress, Pleural empyema, Confusion, Pulmonary pneumatocele, Abnor... ORPHA:36238
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Hepatomegaly OMIM:618224
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Short stature, Broad... OMIM:232400
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Feeding difficulties, Hepatomegaly, Jaundice, Diarrhea,... ORPHA:352
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Diarrhea, Leukopenia, Feed... OMIM:229050
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Perching Syndrome
Respiratory distress, Dysphagia, Camptodactyly, Flexion contracture, Depressed nasal bridge OMIM:617055
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Verrucae... ORPHA:33110
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati... OMIM:613070
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Shigellosis
Peritonitis, Pneumonia, Anorexia, Myocarditis, Vomiting, Bloody diarrhea, Paralytic ileus, Microa... ORPHA:810
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Decreased plasma total carnitine, Elevated hepatic transaminase, Exertional dyspn... ORPHA:42
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia, Hepatic failure ORPHA:79319
Whim Syndrome 1
Verrucae, Neutropenia, Bronchiectasis OMIM:193670
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Decreased liver fu... ORPHA:2442
Caroli Syndrome
Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Sk... ORPHA:572
Primary Erythromelalgia
Leukemia ORPHA:90026
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabd... ORPHA:363400
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Elevated hepatic transaminase, Feeding difficulties, T... ORPHA:263501
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Feeding difficulties, Cholestasis, Hepatomegaly, Jaundice, Hepatic... OMIM:618528
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Recurre... ORPHA:79124
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
Recurrent Respiratory Papillomatosis
Choking episodes, Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent up... ORPHA:60032
Lujo Hemorrhagic Fever
Coma, Lethargy, Dyspnea, Acute hepatic failure, Recurrent pharyngitis ORPHA:319213
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Increased circulating ... ORPHA:514
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, H... ORPHA:2088
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Elevated hepatic transaminase, Erythroderma, Neutropenia, Maculopapu... ORPHA:540
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, A... OMIM:224100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia OMIM:262700
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Abdominal pain, Hepatomegaly, Splenomegaly, Lymphadenop... OMIM:618852
Glycerol Kinase Deficiency
Coma, Lethargy, Growth delay, Hypoglycemia, Hypertriglyceridemia, Small for gestational age, Shor... OMIM:307030
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase, Abdominal cra... ORPHA:98848
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Hepatomegaly, Decreased ... OMIM:246900
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Constipation, Neutropenia, Hypoglycemia, Pancytopenia, Thro... OMIM:606054
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respira... OMIM:614399
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pai... ORPHA:131
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Pituitary dwarfism, Hypoglycemia OMIM:262400
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycos... ORPHA:2089
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Dysphagia, Fetal ascites, Sea-blue histio... OMIM:257220
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Elevated hepatic transaminase, Abnormalit... ORPHA:79230
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Growth delay, Elevated circulating alanine aminotransferase concentration, Death... OMIM:245400
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Abdominal pain, Decreased eosinophil count, Lymphopenia, Toot... ORPHA:2686
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:435660
Essential Thrombocythemia
Abnormal platelet morphology, Myelodysplasia, Acute leukemia, Splenomegaly ORPHA:3318
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Pneumonia, ... ORPHA:2298
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Severe short stature, Neonatal respiratory distress, Aspiration pneumonia, Small fo... OMIM:619057
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Elevated hepatic transaminase, Death in infancy, Failure to thrive in infancy, Hepatome... OMIM:619064
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion o... OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Short nose, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Gastrostomy tube feeding in infancy, Acute hepatic failure, Neutropenia i... ORPHA:228426
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Chilblain Lupus
Skin rash, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar rash, Inflammatory abnormal... ORPHA:90280
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Episodic ataxia, Lethargy, Wide nasal bridge, Apneic episodes precipitated by illness, ... OMIM:312170
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyper... ORPHA:263455
3-Methylglutaconic Aciduria, Type Viii
Poor suck, Neutropenia, Feeding difficulties OMIM:617248
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased liver function, Hypoglycemia, Anemia OMIM:618835
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased... OMIM:618620
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased liver function, Hypoglycemia, Anemia OMIM:618839
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function, Diarrhea, Ascites, Anemia,... OMIM:608104
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils, Lipoatrophy ORPHA:154
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Hypoglycemia, Delayed puberty, Birth length l... OMIM:300148
Alpha-Heavy Chain Disease
Abdominal pain, Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Polyphagia, Abnormal eating behavior OMIM:614962
Immunodeficiency 54
Postnatal growth retardation, Respiratory insufficiency, Hepatomegaly, Respiratory failure, Short... OMIM:609981
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death, Respiratory failure OMIM:301021
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Neutropenia, Anemia OMIM:617056
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Schnitzler Syndrome
Skin rash, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:37748
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Hyperalaninemia, Small for gestational age, Failure to thrive OMIM:614702
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abdominal pain, Liver abscess, Abnormality of the pancreas, Diarrh... ORPHA:54251
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Myelodysplasia, Acute monocytic leukemia, Abnormal alpha granule content, Neuroblastoma, Abnormal... OMIM:601399
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Elevated hepatic transa... ORPHA:1667
Insulinoma
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Fasting hyperinsulin... ORPHA:97279
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Uveitis, Lymphoma, Pancytope... OMIM:615122
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Death in adolescence, Death in infancy, Aminoaciduria, Hypoglycemia, Intra... OMIM:619055
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Death in infancy, Hyperglycinuria, Hyperactivity OMIM:605899
Slc35A1-Cdg
Neutropenia, Pneumonia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Galactosemia I
Cirrhosis, Hemolytic anemia, Hepatomegaly, Decreased liver function, Diarrhea, Vomiting OMIM:230400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Dysphagia, Ventilator dependence with inability to wean... ORPHA:254875
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... ORPHA:90033
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Hepatomegaly, Anorexia, B-cell lymphoma, Breast carcinoma, Splenomegaly, Lymphadenopathy ORPHA:86893
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Anorexia, Diarrhea, Vomiting, Secretory diarrhea OMIM:600351
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Hypogonadism, Recurrent respiratory infections, Obesity OMIM:615993
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Pancr... ORPHA:435651
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... OMIM:147480
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver ORPHA:132
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Ataxia, Wide nasal bridge, Respiratory failure OMIM:610127
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Jaundice, Chronic hepatitis, Diarrhea, Vomiting, Myositis, Ly... ORPHA:39812
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Obesity OMIM:617885
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatic steatosis, Cholelithiasis, Bili... ORPHA:567983
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... ORPHA:369840
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Knee fle... OMIM:313420
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Anorexia, Pancytopenia, Thrombocyt... ORPHA:507
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Glycogen Storage Disease Iv
Cirrhosis, Ascites, Hepatic failure, Portal hypertension, Hepatosplenomegaly OMIM:232500
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
3-Methylcrotonyl-Coa Carboxylase Deficiency
Respiratory insufficiency, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal c... ORPHA:6
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Mastocytosis
Chronic leukemia, Gastrointestinal hemorrhage, Anorexia, Hepatomegaly, Diarrhea, Sarcoma, Splenom... ORPHA:98292
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Lig4 Syndrome
Leukocytosis, Lymphoma, Pancytopenia, Hepatomegaly, Type II diabetes mellitus, Acute leukemia, Ly... ORPHA:99812
Tyrosinemia, Type Iii
Abnormality of the liver, Hypertyrosinemia OMIM:276710
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Diffuse alveolar hemorrhage, Splenomegaly, Elevated... OMIM:616050
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia, Wide nasal bridge ORPHA:2158
Osteopetrosis, Autosomal Recessive 8
Feeding difficulties, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Lack of bowel sounds, Poor appetite, Elevated hepatic transaminase, Bowel... ORPHA:100075
Wilson Disease
Cirrhosis, Hemolytic anemia, Dysphagia, Hepatocellular carcinoma, Glycosuria, Hepatomegaly, Atypi... OMIM:277900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Hyperglutaminemia, Delirium, Lethargy, Respiratory distress, Ataxia, Acute hyperammonemia, ... ORPHA:927
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Erythroderma, Lethal Congenital
Death in infancy, Hypoalbuminemia, Failure to thrive OMIM:227090
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Feeding difficulties, Gastroesophageal reflux, Neutropenia, Decreased methionine synthase activit... OMIM:614857
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuf... OMIM:208081
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Eczema, Cutaneou... ORPHA:2584
Combined Malonic And Methylmalonic Acidemia
Dystonia, Elevated hepatic transaminase, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acide... ORPHA:289504
Sweet Syndrome
Inflammation of the large intestine, Pustule, Leukocytosis, Chronic lymphatic leukemia, Panniculi... ORPHA:3243
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, G... ORPHA:2137
Shwachman-Diamond Syndrome 1
Myelodysplasia, Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Elevated hepatic ... OMIM:260400
Early Myoclonic Encephalopathy
Dysphagia, Lethargy, Recurrent respiratory infections ORPHA:1935
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Dysphagia, Reduced maximal inspiratory... ORPHA:266
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Neutropenia, Biliary tract abnormality, Colitis, Protracted diarrhea, Cholangiti... OMIM:209920
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... OMIM:169400
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Neutropenia, Thrombocytopenia, Diarrhea, Ascites, Vomiting, Hyperglyce... ORPHA:391673
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Loss ... ORPHA:156
Congenital Lethal Erythroderma
Death in infancy, Hypoalbuminemia, Failure to thrive, Respiratory insufficiency ORPHA:1954
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hepatic failure, Anemia OMIM:607426
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia, Short stature, Recurrent respiratory infections ORPHA:364
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Death in infancy, Respiratory insufficiency, Hepatomegaly, Splenomegaly, Recurrent resp... ORPHA:139406
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia, Respiratory insufficiency, Hepatomegaly, Respiratory failure OMIM:614299
Porphyria Due To Ala Dehydratase Deficiency