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Gene: Ubr1 MGI:1277977

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ubiquitin protein ligase E3 component n-recognin 1

Synonyms:

E3 alpha

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Ubr1 mutations

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

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

Human diseases associated with Ubr1 (2 diseases)
Human diseases predicted to be associated with Ubr1 (457 diseases)

The table below shows human diseases associated to Ubr1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Johanson-Blizzard Syndrome		Diabetes mellitus, Failure to thrive, Hypoproteinemia	ORPHA:2315
Johanson-Blizzard Syndrome		Hepatomegaly, Portal hypertension, Intrahepatic cholestasis, Splenomegaly, Hepatic fibrosis, Prim...	OMIM:243800

The table below shows human diseases predicted to be associated to Ubr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ...	OMIM:607250
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator...	OMIM:246700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Increased ...	OMIM:613752
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog...	OMIM:300559
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h...	ORPHA:171706
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Chorea, Impaired distal vibration sen...	OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Pancreatic Colipase Deficiency	Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309108
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Hypoglycemia	ORPHA:67046
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Steatorrhea	OMIM:618752
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re...	ORPHA:324575
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesi...	OMIM:616267
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age	OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Small for gestational age, Elevated circulating creatine kinase ...	ORPHA:26793
Coenzyme Q10 Deficiency, Primary, 3	Decreased level of coenzyme Q10 in skeletal muscle, Hypoalbuminemia	OMIM:614652
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia	OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:612714
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Alg6-Cdg	Ataxia, Decreased LDL cholesterol concentration, Macroglossia, Hypoalbuminemia, Failure to thrive	ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Glycogen Storage Disease Iii	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myopathy, Dista...	OMIM:232400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency	OMIM:609812
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu...	OMIM:615160
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Dysmetria, Abnormal liver parenchyma mo...	ORPHA:456312
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:64753
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Central hypothyroidism, Abnormality of the liver, Difficulty walking, Hyp...	ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u...	OMIM:617872
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Chronic constipation, Abnormal repetitive manne...	OMIM:619695
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti...	ORPHA:276580
X-Linked Lissencephaly With Abnormal Genitalia	Hypohidrosis, Exocrine pancreatic insufficiency	ORPHA:452
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Rajab Interstitial Lung Disease With Brain Calcifications 2	Decreased muscle mass, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Small for gestational age, Diastasis recti, Decreased body weight, Neonatal hypogly...	ORPHA:231140
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Neop...	ORPHA:1333
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul...	OMIM:616050
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis...	OMIM:269200
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Achalasia, Hypothyroidism, Hepatosplenomegaly	OMIM:615952
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Lower limb muscle weakness, Hypoglycemia	OMIM:617950
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Hy...	ORPHA:42
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Myopathy, Failure to thrive, Ketotic hypoglycemia	ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hypoglycemia, Left ventricular hypertrophy, Decreased plasma free carnitine, Fai...	OMIM:619048
Johanson-Blizzard Syndrome	Diabetes mellitus, Failure to thrive, Hypoproteinemia	ORPHA:2315
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Ataxia, Pancreatic fibrosis, Dysmetria, Hepatic fibrosis, Steato...	OMIM:616263
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab...	OMIM:618120
Mpi-Cdg	Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency	OMIM:260450
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Pyruvate Dehydrogenase E3 Deficiency	Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemi...	ORPHA:2394
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Anorexia, Chronic diarrhea, Macronodular cirrhosis, Vomiting, ...	OMIM:557000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Hypoalb...	ORPHA:367
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase...	OMIM:615895
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia	OMIM:602579
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Hypoglycemia, Dysmetria, Paresthesia	ORPHA:48431
Mehmo Syndrome	Hypoglycemia, Small for gestational age, Obesity, Gait ataxia	OMIM:300148
Eosinophilic Gastroenteritis	Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2070
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli...	ORPHA:276608
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ataxia, Hypoglycemia	OMIM:246900
Dengue Fever	Hypoproteinemia	ORPHA:99828
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased...	OMIM:617093
Galactokinase Deficiency	Small for gestational age, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasm...	ORPHA:79237
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Athetosis, Hypoglycemia, Hyperalaninemia	OMIM:266150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia	ORPHA:163693
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypoglycemia, I...	ORPHA:79644
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:608104
Abetalipoproteinemia	Impaired vibratory sensation, Decreased HDL cholesterol concentration, Failure to thrive, Ataxia,...	ORPHA:14
Shwachman-Diamond Syndrome 2	Hepatomegaly, Diarrhea, Steatorrhea, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo...	OMIM:619055
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi...	OMIM:619386
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Failure to thrive, Hypoglycemia	ORPHA:369
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci...	OMIM:300972
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Bone Marrow Failure Syndrome 3	Pancreatic steatosis, Hyperactivity, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617052
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hypoglycemia, Hyperuricemia	OMIM:261750
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Omenn Syndrome	Failure to thrive, Hypoproteinemia	OMIM:603554
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Hypoproteinemia, Hypocalcemia	OMIM:235255
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Recurrent pancreatitis, St...	OMIM:618268
Pearson Syndrome	Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Ataxia, Decreased response to growth hormone...	ORPHA:699
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Hsd10 Mitochondrial Disease	Choreoathetosis, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Deeah Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic diarrhea, Hypohidros...	OMIM:619004
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Ataxia, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neonatal h...	OMIM:619046
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Irritability, Cirrhosis, Exocrine pancreatic insufficiency	OMIM:616539
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive	OMIM:614702
Immunodeficiency 32B	Failure to thrive, Hypoalbuminemia	OMIM:226990
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Shwachman-Diamond Syndrome	Short attention span, Hepatomegaly, Decreased response to growth hormone stimulation test, Steato...	ORPHA:811
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Gait ataxia	OMIM:618158
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Decreased serum iron, Flexion contracture, Atypical s...	ORPHA:89842
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Hypoglycemia, Hyperglycinemia, Failure to thrive, Hypertaurinemia	OMIM:245400
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ...	OMIM:219700
Chédiak-Higashi Syndrome	Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Increased circulating fe...	ORPHA:167
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Cog8-Cdg	Skeletal muscle atrophy, Failure to thrive, Ataxia, Hypoglycemia	ORPHA:95428
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia	OMIM:618329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Dysmetria, Steatorrhe...	OMIM:212065
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Cystinosis, Nephropathic	Hepatomegaly, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Splenomegaly, Hypo...	OMIM:219800
Shwachman-Diamond Syndrome 1	Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:260400
Carnitine Deficiency, Systemic Primary	Elevated circulating creatine kinase concentration, Hyperammonemia, Myopathy, Recurrent hypoglyce...	OMIM:212140
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hepatic steatosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas...	ORPHA:93111
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Hypoalbuminemia	OMIM:617021
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail...	OMIM:610965
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,...	ORPHA:94086
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Hypoglycemia, Dysmetria, Athetosis, Generalized amyotrophy, Limb...	OMIM:617710
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre...	ORPHA:97279
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia	OMIM:620137
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Laron Syndrome	Hypercholesterolemia, Hypoglycemia, Truncal obesity	ORPHA:633
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration...	ORPHA:79240
Liver Disease, Severe Congenital	Short attention span, Chronic gastritis, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholesta...	OMIM:619991
Mitochondrial Complex I Deficiency, Nuclear Type 19	Athetosis, Hypoglycemia	OMIM:618241
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Abnormality of the pancreas, Ataxia, Exocrine pancreatic insufficiency	ORPHA:2750
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre...	ORPHA:263455
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Hypoalbuminemia, Hypoch...	ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula...	ORPHA:90041
Avian Influenza	Rhabdomyolysis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated cir...	ORPHA:454836
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Portal hypertension, Macronodular cirrhosis, Hepatic fibrosis, Hypothyroidism, ...	OMIM:620005
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Hypoglycemia	OMIM:618958
Maple Syrup Urine Disease	Ataxia, Hypoglycemia, Elevated circulating branched chain amino acid concentration, Elevated circ...	OMIM:248600
Cystic Fibrosis	Meconium ileus, Depression, Abnormality of the liver, Gastroesophageal reflux, Cirrhosis, Steator...	ORPHA:586
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase...	ORPHA:264580
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ...	ORPHA:73272
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal...	ORPHA:199296
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick...	ORPHA:2126
Hypotonia-Cystinuria Syndrome	Facial palsy, Ragged-red muscle fibers, Hypocalcemia, Failure to thrive, Neonatal hypoglycemia	OMIM:606407
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperammonemia,...	OMIM:212138
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Fai...	OMIM:210210
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms, Exocrine pancreatic insufficiency	ORPHA:508498
Aicardi-Goutieres Syndrome 9	Weight loss, Lower limb hypertonia, Hypoalbuminemia, Left ventricular hypertrophy, Failure to thrive	OMIM:619487
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Decreased circulating cortisol level, Obesity, Reactive hypoglycemia	OMIM:600955
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminem...	ORPHA:37042
Donohue Syndrome	Skeletal muscle atrophy, Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Severe fail...	OMIM:246200
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:618500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia	OMIM:600649
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha...	OMIM:616026
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Propionic Acidemia	Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Limb hypertonia	OMIM:606054
Galloway-Mowat Syndrome 1	Ataxia, Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contractu...	OMIM:251300
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp...	OMIM:255120
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity	ORPHA:254516
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Hypoglycemia	OMIM:616113
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failu...	ORPHA:79396
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Bacterial Toxic-Shock Syndrome	Myositis, Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating cre...	ORPHA:36234
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Gait ataxia	OMIM:616355
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Elevated circulating acylcarnit...	ORPHA:99901
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Failure to thrive, Decreased circulating cortisol level	OMIM:202200
Mucopolysaccharidosis-Plus Syndrome	Macroglossia, Flexion contracture, Hypoalbuminemia	OMIM:617303
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:615453
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hyperammonemia, Hypoglycemia	OMIM:618253
Galloway-Mowat Syndrome 3	Hiatus hernia, Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:617729
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:607398
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Al Amyloidosis	Macroglossia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss	ORPHA:85443
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pare...	ORPHA:29073
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive	OMIM:251000
Glutaric Acidemia I	Choreoathetosis, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia	OMIM:231670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbla...	ORPHA:2255
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycemia, Decreased body...	ORPHA:391408
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoesthesia, Hypoalbuminemia, H...	OMIM:277900
Alagille Syndrome 1	Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol...	OMIM:118450
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypoglycemia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoins...	ORPHA:453533
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ataxia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, E...	ORPHA:480864
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency	OMIM:137920
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hypoglycemia, E...	OMIM:616878
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Elevated circulating creatine kinase con...	ORPHA:26791
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Pierson Syndrome	Skeletal muscle atrophy, Hypoproteinemia	OMIM:609049
Orthostatic Hypotension 1	Weakness of facial musculature, Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Hyperactivity, Gastroesophageal reflux, Tics, Low frustration tolera...	ORPHA:508488
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Diastasis recti, Large for gestational age	OMIM:616638
Hsd10 Disease, Infantile Type	Choreoathetosis, Hypoglycemia, Hyperammonemia	ORPHA:391428
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Small for gestational age, Truncal ataxia, Gait ataxia	OMIM:616817
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Hyperammonemia, Fasting hypogly...	ORPHA:159
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:235510
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies	OMIM:620275
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp...	OMIM:227810
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Small for gestational age, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjug...	OMIM:613658
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality...	OMIM:222470
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hypogly...	ORPHA:3008
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Ataxia, Hypoglycemia, Failure to thrive, Abnormal mi...	ORPHA:2609
Glycogen Storage Disease Ia	Decreased muscle mass, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglyc...	OMIM:232200
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Slender build, Neonatal hypoglycemia	OMIM:617600
Beckwith-Wiedemann Syndrome	Hepatomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypothyroidism, Exocrin...	ORPHA:116
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We...	ORPHA:199299
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Myopathy, Muscu...	OMIM:307030
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase co...	OMIM:201475
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Gait ataxia	OMIM:254900
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Classic Galactosemia	Ataxia, Hypoglycemia	ORPHA:79239
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Flexion contracture, Hypoalbuminemia, Hernia	ORPHA:505248
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
D-Glyceric Aciduria	Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia	OMIM:220120
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Hypoglycemia, Chorea, Choreoathetos...	ORPHA:506
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Hypoglycemia	ORPHA:397590
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce...	ORPHA:361
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Rhabdomyolysis, Skeletal myopathy, Hypocalcemia, Left ventricular h...	ORPHA:746
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Flexion ...	ORPHA:17
Juvenile Polyposis Of Infancy	Cachexia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Ataxia, Generalized amyotrophy, Diaphragmatic e...	ORPHA:66634
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemi...	ORPHA:508
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We...	ORPHA:95409
Primary Sclerosing Cholangitis	Type I diabetes mellitus, Hypoalbuminemia, Generalized amyotrophy, Weight loss	ORPHA:171
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypocalcemia, Hypoglycemia	OMIM:607143
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	ORPHA:90790
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Juvenile Polyposis Syndrome	Multiple lipomas, Failure to thrive, Hypoproteinemia, Rectocele	ORPHA:2929
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase co...	OMIM:608779
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Pain insensitivity, Ataxia, Hypoglycemia, Corneal scarring, Distal senso...	OMIM:256810
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype...	ORPHA:769
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Dysesthesia, E...	ORPHA:99826
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Silver-Russell Syndrome 1	Small for gestational age, Fasting hypoglycemia	OMIM:180860
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recur...	ORPHA:813
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased body weight	OMIM:617053
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ataxia, Contracture of the proximal interphalangeal joint of the...	ORPHA:457279
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, We...	ORPHA:85138
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Failure to thrive, Hypoglycemia	OMIM:618005
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Hypoglycemia, Cachexia, Myopathy, Lipoma	ORPHA:109
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, Umbilical hernia, Small for gestational age, Hypoglycemia	OMIM:614501
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Ataxia, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Recurrent hypog...	OMIM:124000
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Diastasis recti, Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ataxia, Hypoglycemia, Ragged-red muscle fibers, Increased intramyocellul...	OMIM:252010
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Pain insensitivity, Hypoglycemia, Choreoathetosis, Athetosis	OMIM:620224
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoglycemia	ORPHA:95496
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hypoglycemia, Glycosuria	OMIM:231680
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia	ORPHA:572798
Johanson-Blizzard Syndrome	Hepatomegaly, Portal hypertension, Intrahepatic cholestasis, Splenomegaly, Hepatic fibrosis, Prim...	OMIM:243800
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Tenorio Syndrome	Macroglossia, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Congenital Disorder Of Glycosylation, Type It	Rhabdomyolysis, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:614921
Shashi-Pena Syndrome	Hypoglycemia, Limb hypertonia	OMIM:617190
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Ataxia, Hyperammonemia, Weight loss, Recurrent hypoglycemia, Hyperuricemia	ORPHA:20
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Rhabdomyolysis, Abnormal blood ion conc...	ORPHA:810
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Hyperammonemia, Hyperhomocystine...	ORPHA:79282
Smith-Lemli-Opitz Syndrome	Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo...	OMIM:270400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Flexion contracture, Hypoglycemia, Distal sensory impairment	OMIM:616007
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi...	ORPHA:3337
3-Methylglutaconic Aciduria, Type Viib	Choreoathetosis, Flexion contracture, Ataxia, Neonatal hypoglycemia	OMIM:616271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric...	ORPHA:79259
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232220
Tyrosinemia, Type I	Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypermethio...	OMIM:276700
Holoprosencephaly	Omphalocele, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congeni...	ORPHA:2162
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity	ORPHA:91355
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Congenital foot contractures, Limb hypertonia	ORPHA:565624
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Hypoglycemia, Congenital diaphragmatic hernia, Larg...	OMIM:267000
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Menkes Disease	Inguinal hernia, Hypoglycemia, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Atyp...	ORPHA:565
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:619381
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa...	OMIM:229600
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Oculodentodigital Dysplasia	Ataxia, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycemia, Umbilical hernia	ORPHA:2710
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Chorea, Ataxia, Fasting hypoglycemia	ORPHA:25
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Overweight, Macroglossia, Umbilical hernia, Abnormal circulating thyroglobulin level	ORPHA:226307
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ataxia, Small for gestational age, Hypoglycemia, Dysmetria, Hyperammonemia, Trun...	OMIM:220111
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Neonatal hypoglycemia	ORPHA:445038
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Sotos Syndrome	Glucose intolerance, Increased body weight, Neonatal hypoglycemia	OMIM:117550
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:168558
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia, Failure...	ORPHA:293978
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero...	ORPHA:289548
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232240
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Small for gestational age, Insulin resistance, Fasting hypoglycemia, Failu...	ORPHA:96182
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele...	OMIM:619534
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia	ORPHA:469
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia, Increased circulating cortisol level	ORPHA:786
Leptospirosis	Hyperproteinemia, Rhabdomyolysis	ORPHA:509
Tropical Endomyocardial Fibrosis	Cachexia, Hypoalbuminemia, Myocardial calcification	ORPHA:75565
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Hypoglycemia, Obesity	OMIM:301066
Pmm2-Cdg	Multiple joint contractures, Lipodystrophy, Ataxia, Abnormal subcutaneous fat tissue distribution...	ORPHA:79318
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Elevated circulating growth hormone concentration, Diarrhea, Insulinoma, Ext...	ORPHA:276152
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:373
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Large for gestational age, Gait ataxia, Slender build, Neonatal hypoglycemia	ORPHA:457359
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia	ORPHA:137675
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype...	OMIM:201750
Costello Syndrome	Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Failure to thrive	OMIM:218040
Acute Liver Failure	Pain insensitivity, Ataxia, Hyperammonemia, Hypoglycemia	ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai...	ORPHA:90794
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:620305
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy, Neonatal hypoglycemia	OMIM:261740
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Beckwith-Wiedemann Syndrome	Omphalocele, Macroglossia, Diastasis recti, Neonatal hypoglycemia	OMIM:130650
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Sotos Syndrome	Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Bilateral camptodacty...	ORPHA:821
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ubr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ubr1.

No publications found that use IMPC mice or data for Ubr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ubr1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ubr1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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