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Gene: Eif2s1 MGI:95299

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Gene Summary

Name:
eukaryotic translation initiation factor 2, subunit 1 alpha
Synonyms:
Eif2a,  2410026C18Rik,  0910001O23Rik,  eIF2alpha

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Eif2s1em1(IMPC)Mbp HOM   E9.5 0.00
enlarged spleen Eif2s1em1(IMPC)Mbp HET Early adult 0.00
decreased prepulse inhibition Eif2s1em1(IMPC)Mbp HET Early adult 4.74×10-05
abnormal skin morphology Eif2s1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Eif2s1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Eif2s1em1(IMPC)Mbp HET Early adult 0.00
decreased startle reflex Eif2s1em1(IMPC)Mbp HET   Early adult 6.95×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Eif2s1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Eif2s1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Glycogen Storage Disease Vi
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly OMIM:232700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Death in infancy, Jaundice OMIM:617156
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis OMIM:617872
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:329249
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... ORPHA:181393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Polyphagia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia ORPHA:369873
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hypoglycemia, Death in infancy, Hepatic steatosis OMIM:619386
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... ORPHA:199296
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Dysphagia OMIM:618253
Pituitary Stalk Interruption Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal response to ACTH... OMIM:202200
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia OMIM:612126
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycem... ORPHA:369
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia, Hyperhidrosis ORPHA:231140
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... OMIM:613027
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Male hypogonadism, Delayed p... OMIM:300148
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Dysphagia, Hepatomegaly OMIM:618958
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:246900
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Neonatal death, Death in infancy OMIM:618835
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Neonatal death, Death in infancy OMIM:618839
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Precocious puberty, Congenital hypothyroidism OMIM:614736
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluconeogenesis, Recurre... OMIM:212140
Glycogen Storage Disease Iii
Hypoglycemia, Hepatic fibrosis, Hepatomegaly OMIM:232400
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:619048
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:306000
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Neonatal death, Hypoglycemia, Death in infancy, Hyperhidrosis OMIM:245400
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
2P21 Microdeletion Syndrome
Hypoglycemia, Hypogonadism ORPHA:163693
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Blue Diaper Syndrome
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In... OMIM:261680
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Glycerol Kinase Deficiency
Hypoglycemia, Adrenocortical hypoplasia, Adrenal insufficiency OMIM:307030
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism ORPHA:48431
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Delayed puberty ORPHA:633
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Macrovesicular hepatic steatosis, Hypo... OMIM:256810
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia ORPHA:79237
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Insulin-resistant diab... OMIM:604367
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Dystonia OMIM:610333
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Hyperhidrosis ORPHA:231137
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Death in infancy, Diabetes mellitus, Hyperglycemia OMIM:609069
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-c... OMIM:246200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Death in childhood, Microvesicular hepatic steatosis, Death in infancy OMIM:611126
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease, Hepatomegaly ORPHA:5
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Cirrhosis, Jaundice, Death in infancy OMIM:617049
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Timothy Syndrome
Hypoglycemia, Hypothyroidism OMIM:601005
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures OMIM:231530
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Death in infancy, Splenomegaly OMIM:619046
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Polyphagia, Decreased response to growth h... OMIM:606407
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glycosuria, Neonatal death, Hypoglycemia, Hepatic periportal necrosis, Hepatic stea... OMIM:231680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:201450
Immunodeficiency 32B
Splenomegaly OMIM:226990
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Delayed puberty, Jaundice, Decreased serum insulin-like growth factor 1 ORPHA:79239
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in adolescence, Neonatal death, Hypoglycemia, Death in infancy, Neonata... OMIM:619055
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Hepatomegaly ORPHA:156
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test ORPHA:436174
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Hepatomegaly ORPHA:2394
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Death in childhood, Hepatomegaly OMIM:246450
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypothyroidism, Adrenal insufficiency, Hypogonadism OMIM:617575
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... OMIM:616828
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:615577
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia,... ORPHA:79312
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Visceral Steatosis, Congenital
Hypoglycemia, Jaundice, Hepatic steatosis, Neonatal death OMIM:228100
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus OMIM:616026
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Death in inf... OMIM:201475
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Delayed puberty, Hypothyroidism, Diabetes mellitus ORPHA:391408
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Hsd10 Disease, Infantile Type
Hypoglycemia, Dysphagia ORPHA:391428
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Neonatal hypoglycemia OMIM:212138
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carc... ORPHA:2088
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Ketotic hypog... ORPHA:361
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic steatosis, Hepatomegaly ORPHA:42
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... ORPHA:71212
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Hypogonadism, Insulin resistance ORPHA:73272
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Pancreatitis, Hepatomegaly OMIM:251000
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:255120
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Polydipsia, Precocious puberty, I... ORPHA:769
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Propionic Acidemia
Hypoglycemia, Pancreatitis, Hepatomegaly OMIM:606054
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Recurrent hypoglycemia, Delayed puberty OMIM:616817
Cog8-Cdg
Hypoglycemia ORPHA:95428
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis ORPHA:363400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hepatic steatosis OMIM:210200
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... ORPHA:85138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Hypoglycemia, Hepatic... ORPHA:264580
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Oral aversion, Hyperglycemia ORPHA:134
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... ORPHA:95409
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Glutaric Acidemia I
Hypoglycemia, Hepatomegaly OMIM:231670
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... ORPHA:226307
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Hypothyroidism ORPHA:397590
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Acute pancreatitis, Dysphagia, Hepatic periportal necrosis ORPHA:26791
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Sézary Syndrome
Hepatomegaly, Splenomegaly, Tremor, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Glycogen Storage Disease Ia
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Delayed puberty, Fasting hypo... OMIM:232200
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... OMIM:608836
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... OMIM:278000
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Hypoglycemia, Hepatitis, Int... OMIM:614921
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia, Precocious puberty OMIM:301032
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma, Decreased response to growth hormone stimulation ... OMIM:180860
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Hepatocellular carcinoma, Hepatocell... ORPHA:79240
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Portal hypertension ORPHA:79319
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Dysphagia, Compensated hypothyroidism, Hypoglycemic seizures ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Death in infancy OMIM:619355
Wolman Disease
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypoglycemia, Hypothyroidism, Premature pubarche, Oral-pharyngeal dysphagia OMIM:616878
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
D-Glyceric Aciduria
Hypoglycemia OMIM:220120
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Hypoglyc... OMIM:232220
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Cholesta... ORPHA:370
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Diabetes mellitus, Insu... ORPHA:528
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy OMIM:610768
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Cirrhosis, Death in childhood, Hepatic fibrosis OMIM:602579
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly ORPHA:228305
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... ORPHA:131
Deeah Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth hormone stimulation... OMIM:619004
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... OMIM:607765
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Death in early adulthood, Insulin-resistant diabetes melli... OMIM:608612
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis OMIM:124000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Mirage Syndrome
Hypoglycemia, Hypergonadotropic hypogonadism, Hypoplastic spleen, Adrenal insufficiency OMIM:617053
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:159
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Cholera
Hypoglycemia, Miscarriage ORPHA:173
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608779
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Hepatomegaly, Prolonged neonatal jaundice OMIM:233600
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Hypothyroidism OMIM:618005
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:289548
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis, Jaundice OMIM:618641
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Premature adrenarche, Hyperhidrosis ORPHA:813
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic steatosis OMIM:618329
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:168558
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism ORPHA:445038
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant diabetes mellitu... ORPHA:79086
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... OMIM:257220
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Oral aversion, Insulin... ORPHA:96182
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... OMIM:603903
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly OMIM:268800
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hypoglycemia, Delay... OMIM:232240
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Microvesicular hepatic steatosis, Hypothyroidism ORPHA:66634
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Cholestasis OMIM:609015
Leigh Syndrome
Hypoglycemia, Dysphagia ORPHA:506
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Cholestasis ORPHA:746
Isolated Complex I Deficiency
Hypoglycemia, Hepatomegaly, Diabetes mellitus ORPHA:2609
Gaucher Disease, Type I
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism OMIM:230800
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Dysphagia ORPHA:572798
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Hepatic steatosis ORPHA:99901
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Dysphagia ORPHA:25
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Hepatoc... ORPHA:79259
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Neoplasm of the adrenal cortex, Thyroid carcinoma, Hashimoto thyroiditis ORPHA:109
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... ORPHA:20
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance, Prolonged neonatal jaundice OMIM:117550
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Insulin-resistan... OMIM:608594
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Increased circula... ORPHA:508
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Hypog... ORPHA:88673
Developmental And Epileptic Encephalopathy 68