Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (472 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		Hypoproteinemia, Failure to thrive, Diabetes mellitus	ORPHA:2315
Johanson-Blizzard Syndrome		Intrahepatic cholestasis, Hepatic fibrosis, Exocrine pancreatic insufficiency, Portal hypertensio...	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, Hypoalbuminemia, Ataxia, Distal amyotrophy, Impaired vibration sensation in t...	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Impaired vibratory sensation, Ataxia, Distal amyotrophy, Distal sensory impairme...	OMIM:607250
Diarrhea 13	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Myopathy, Hypertriglyceridemia	ORPHA:366
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri...	OMIM:232700
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy...	ORPHA:293964
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Chylomicron Retention Disease	Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Failure to thrive, Hypocholes...	OMIM:246700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Failure to t...	OMIM:613752
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Obesity, Di...	ORPHA:171706
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, ...	OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr...	OMIM:619868
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Short Stature Due To Ghsr Deficiency	Abnormality of body weight, Hypoglycemia, Decreased body weight	ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia	ORPHA:67046
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increas...	OMIM:267700
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Chronic diarrhea, Steatorrhea	ORPHA:309108
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy...	ORPHA:324575
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology	OMIM:211400
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Impaired vibratory sensation, Obesity, Hypercholesterolemia, Ataxia, Elevated ci...	OMIM:616267
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Steatorrhea	OMIM:618752
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Skeletal muscle atrophy, Lower limb muscle weakness, Elevated haptoglobin level,...	OMIM:620632
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology	OMIM:613021
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Exercise-induced ...	ORPHA:26793
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea	OMIM:612714
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea	OMIM:615935
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Decreased LDL cholesterol concentration, Ataxia, Macroglossia	ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, Increas...	OMIM:603553
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia	ORPHA:2494
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia	ORPHA:398063
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Glycogen Storage Disease Iii	Distal amyotrophy, Hypoglycemia, Hyperlipidemia, Myopathy, Elevated circulating creatine kinase c...	OMIM:232400
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency	OMIM:609812
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Dysmetria, Hyperechogenic pancreas, Hypothyroidism, Abnormal l...	ORPHA:456312
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:260370
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Wolcott-Rallison Syndrome	Central hypothyroidism, Exocrine pancreatic insufficiency, Difficulty walking, Abnormality of the...	ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failu...	OMIM:617872
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Somatic sensory dysfunction, Elevated circulating creatine kinase concentration,...	ORPHA:64753
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
X-Linked Lissencephaly With Abnormal Genitalia	Exocrine pancreatic insufficiency, Hypohidrosis	ORPHA:452
Rauch-Steindl Syndrome	Exocrine pancreatic insufficiency, Chronic constipation, Aggressive behavior, Hyperactivity, Hepa...	OMIM:619695
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia	ORPHA:90362
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276580
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Decreased muscle mass, Hypertriglyceridemia	OMIM:619013
Hyperinsulinism Due To Ucp2 Deficiency	Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for gestational age, Reactive hypoglycemi...	ORPHA:276556
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Hypoproteinemia	OMIM:608093
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Diastasis recti, Decreased body weight, Neonatal hypoglycemia, Small for gestationa...	ORPHA:231140
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Failure to thrive, Increased circulating f...	OMIM:616050
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia, Hypoglycemia, Ataxia	OMIM:617575
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Cirr...	OMIM:269200
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Enamel hypoplasia	OMIM:618349
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hypoglycemia, Hyperammonemia, Myopathy, Elevated circulating creatine ki...	ORPHA:42
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmetria, Hypothyroidism...	OMIM:616263
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypothyroidism, Achalasia	OMIM:615952
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency	OMIM:260450
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Hyperalaninemia, Failure to thrive, Lower limb muscle weakness	OMIM:617950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Dysmetria, Ataxia, Acute rhabdomyoly...	ORPHA:48431
Johanson-Blizzard Syndrome	Hypoproteinemia, Failure to thrive, Diabetes mellitus	ORPHA:2315
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Failure to thrive, Myopathy	ORPHA:26792
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, Elevated circulating cre...	OMIM:618120
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive	ORPHA:79319
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Decreased plasma free carnitine, Left ventricular hypertrophy, H...	OMIM:619048
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive	OMIM:608776
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia	ORPHA:2089
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Pearson Marrow-Pancreas Syndrome	Vomiting, Exocrine pancreatic insufficiency, Macronodular cirrhosis, Lethargy, Pancreatic fibrosi...	OMIM:557000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Skeletal muscle atrophy, Failure to thrive, Myopathy, Abnormal muscle glycogen c...	ORPHA:367
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hypoproteinemia, Failure to thrive, Elevated circulating creatine kinase...	OMIM:615895
Glycogen Storage Disease Ixa1	Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Decreased circulating carnitine con...	ORPHA:2394
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Increased circulating cortisol level, Recurrent hypoglycemia, Large for gestational age, Hyperins...	ORPHA:79644
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia	ORPHA:2070
Mehmo Syndrome	Obesity, Gait ataxia, Small for gestational age, Hypoglycemia	OMIM:300148
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive, Steatorrhea	OMIM:602579
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugate...	OMIM:617093
Dengue Fever	Hypoproteinemia	ORPHA:99828
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin...	ORPHA:276608
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Failure to thrive	OMIM:608104
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Abetalipoproteinemia	Ataxia, Impaired vibratory sensation, Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, De...	ORPHA:14
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia, Failure to thrive, Dicarboxylic acidemia, Methylmalonic acidemia	ORPHA:289504
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hypoglycemia, Ataxia	OMIM:246900
2P21 Microdeletion Syndrome	Hypoglycemia, Hypocalcemia, Failure to thrive	ORPHA:163693
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Failure to thrive, Abnormal circulating ...	ORPHA:88618
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin...	OMIM:242150
Shwachman-Diamond Syndrome 2	Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Steatorrhea	OMIM:617941
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase...	OMIM:231100
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ...	ORPHA:552
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre...	ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentrat...	OMIM:619055
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Cholestasis, Exocrine pancreatic i...	OMIM:300972
Pyruvate Carboxylase Deficiency	Athetosis, Hyperalaninemia, Increased serum pyruvate, Hypoglycemia	OMIM:266150
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hyperglycinemia, Hyperamylasemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Hyperactivity	OMIM:617052
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Omenn Syndrome	Hypoproteinemia, Failure to thrive	OMIM:603554
Hsd10 Mitochondrial Disease	Hypoglycemia, Choreoathetosis, Elevated circulating tiglylglycine concentration	OMIM:300438
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Hypoproteinemia, Hypocalcemia	OMIM:235255
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Failure to thrive, Hypoglycemia	ORPHA:369
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Splenomegaly, Recurre...	OMIM:618268
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in...	OMIM:619004
Pearson Syndrome	Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal...	ORPHA:699
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Propionic Acidemia	Hyperammonemia, Hypoglycemia	ORPHA:35
Cystic Fibrosis	Diarrhea, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Cirrho...	OMIM:219700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe...	OMIM:616329
Glycogen Storage Disease Ixb	Hypoglycemia, Increased muscle glycogen content, Hyperuricemia	OMIM:261750
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Exocrine pancreatic insufficiency, Cirrhosis, Irritability	OMIM:616539
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive	OMIM:226990
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Hyperprolinemia, Hyperalaninemia, Ataxia, Increased serum pyruvate, Neonatal h...	OMIM:619046
Shwachman-Diamond Syndrome	Pancreatic hypoplasia, Hypopituitarism, Decreased response to growth hormone stimulation test, Ex...	ORPHA:811
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestational age	OMIM:614702
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gait ataxia, Recurrent hypoglycemia	OMIM:618158
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c...	ORPHA:89842
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Skeletal muscle atrophy, Hypoglycemia	ORPHA:156
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Hyperglycinemia, Hypertaurinemia	OMIM:245400
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Dysmetria, Abnormal subcutaneous fat tis...	OMIM:212065
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Cog8-Cdg	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Ataxia	ORPHA:95428
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Hyperam...	OMIM:212140
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia	ORPHA:664
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:618329
Chédiak-Higashi Syndrome	Ataxia, Somatic sensory dysfunction, Increased circulating ferritin concentration, Hyponatremia, ...	ORPHA:167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hyperty...	OMIM:617156
Shwachman-Diamond Syndrome 1	Hepatomegaly, Exocrine pancreatic insufficiency, Steatorrhea	OMIM:260400
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam...	OMIM:610965
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperalaninemia, Hyperammonemia, Failure to thrive	OMIM:614739
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Small for gestational age	OMIM:617021
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei...	ORPHA:94086
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of...	ORPHA:93111
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Dysmetria, Limb hypertonia, Ataxia, Athetosis, Generalized...	OMIM:617710
Cystinosis, Nephropathic	Progressive neurologic deterioration, Polydipsia, Exocrine pancreatic insufficiency, Splenomegaly...	OMIM:219800
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Colitis, Diarrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Insulinoma	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Paresthesia, Reactive hypogly...	ORPHA:97279
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Hypoglycemia	OMIM:620137
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu...	ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulat...	OMIM:617049
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia, Decreased muscle mass, Abdominal obesity	ORPHA:631
Laron Syndrome	Hypoglycemia, Hypercholesterolemia, Truncal obesity	ORPHA:633
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con...	ORPHA:247353
Liver Disease, Severe Congenital	Intrahepatic cholestasis, Vomiting, Diarrhea, Portal inflammation, Pancreatic hypoplasia, Exocrin...	OMIM:619991
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Failure to thrive, Hypoketotic hypoglycemia, Hy...	OMIM:609015
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Ca...	ORPHA:79324
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 19	Athetosis, Hypoglycemia	OMIM:618241
Orofaciodigital Syndrome Type 1	Exocrine pancreatic insufficiency, Pancreatic cysts, Abnormality of the pancreas, Ataxia	ORPHA:2750
Cystic Fibrosis	Gastroesophageal reflux, Depression, Exocrine pancreatic insufficiency, Abnormality of the liver,...	ORPHA:586
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Recurrent hypoglycemia, Rhabdomyolysis, Elevated circulating creatine ki...	ORPHA:79240
Gaisböck Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,...	ORPHA:90041
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Exocrine pancreatic insufficiency, Portal hypertension, Macro...	OMIM:620005
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia	OMIM:613027
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy...	ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Hypoglycemia	OMIM:618958
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity...	ORPHA:73272
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia	OMIM:606407
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, Reduced C-peptide le...	ORPHA:2126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase co...	ORPHA:264580
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemic seizures, Neonatal hypoglycemia	ORPHA:199296
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia, Limb hypertonia, Failure to thrive, Joint contracture	ORPHA:35708
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Hypocalc...	ORPHA:37042
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Skeletal muscle atrophy, Failure to thrive, Hypogl...	OMIM:210210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Exocrine pancreatic insufficiency, Motor stereotypy	ORPHA:508498
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:600649
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Elevated circulating L-alloisoleuci...	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Pancreatic aplasia	OMIM:618500
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Failure to thrive, Left ventricular hypertrophy, Weight loss, Lower limb hypertonia	OMIM:619487
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Hyperammonemia, Rhabdomyolysis, Elevated circulating creatine kinase concentration,...	OMIM:212138
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Donohue Syndrome	Postprandial hyperglycemia, Skeletal muscle atrophy, Hyperglycemia, Hyperinsulinemia, Adipose tis...	OMIM:246200
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Hypernatremia	OMIM:615508
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Diabetes mel...	OMIM:616026
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypoinsulinemia	OMIM:600955
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Failure to thrive, Atrophic scars, Distal lower limb amyotrophy, Scarring, Ename...	ORPHA:79396
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Ataxia, Camptodactyly, Small for g...	OMIM:251300
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:228305
Renal Cysts And Diabetes Syndrome	Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor...	OMIM:137920
Propionic Acidemia	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Limb hypertonia	OMIM:606054
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia, Ataxia	OMIM:616113
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Temple Syndrome	Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia	ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Elevated circulating cre...	OMIM:619355
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive	OMIM:617729
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Al Amyloidosis	Hypoalbuminemia, Macroglossia, Increased circulating NT-proBNP concentration, Weight loss	ORPHA:85443
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Macroglossia, Flexion contracture	OMIM:617303
Houge-Janssens Syndrome 1	Facial hypotonia, Gait ataxia, Hypoglycemia, Congenital muscular torticollis	OMIM:616355
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Hyperglycemia, Hyperammonemia, Failure to thrive	OMIM:615453
Multiple Myeloma	Elevated circulating creatinine concentration, Paresthesia, Weight loss, Hyperproteinemia, Hyperc...	ORPHA:29073
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hyperammonemia, Hypoglycemia	OMIM:618253
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia	ORPHA:158048
Glutaric Acidemia I	Hypoglycemia, Elevated circulating glutaric acid concentration, Choreoathetosis, Failure to thrive	OMIM:231670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Congenital hypothyroidism, Biliary atre...	ORPHA:2255
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Alagille Syndrome 1	Cholestasis, Exocrine pancreatic insufficiency, Reduced number of intrahepatic bile ducts, Cirrho...	OMIM:118450
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Dorsocervical fat pad, Decreased body weight, Diabetes mellitus, Small for gestatio...	ORPHA:391408
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Hypokalemia	OMIM:174900
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hypophosphatemia, Fasting hypoglycemia...	ORPHA:2088
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Hypoglycemia, Type II diabetes mellitus, Ataxia, Hypoins...	ORPHA:453533
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hyperammonemia, Elevated circulat...	ORPHA:480864
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia	ORPHA:5
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Infantile Liver Failure Syndrome 2	Hyperammonemia, Hypoglycemia	OMIM:616483
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Low plasma citrulline, Impaired gluconeogenesis, Fasting hypoglycemia	OMIM:261680
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Pierson Syndrome	Hypoproteinemia, Skeletal muscle atrophy	OMIM:609049
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Gait ataxia, Hyperammonemia, Rhab...	OMIM:616878
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Elevated circulati...	OMIM:223360
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Low frus...	ORPHA:508488
Long-Olsen-Distelmaier Syndrome	Hypoglycemia, Hyperammonemia, Failure to thrive	OMIM:620609
Smith-Kingsmore Syndrome	Large for gestational age, Diastasis recti, Hypoglycemia, Umbilical hernia	OMIM:616638
Glucocorticoid Deficiency 3	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:609197
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Methylmalonic acidemia	OMIM:251000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Hypoglycemia	OMIM:201910
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Ataxia	ORPHA:134
Hsd10 Disease, Infantile Type	Hyperammonemia, Choreoathetosis, Hypoglycemia	ORPHA:391428
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Slender build, Inguinal hernia, Hypocalcemia, U...	OMIM:613658
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Truncal ataxia, Gait ataxia, Small for gestational age, Recurrent hypoglycemia	OMIM:616817
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Camptodactyly, Umbilical hernia	OMIM:235510
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hyperammonemia, Hypoglycemia, Elevated circulating...	OMIM:620300
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia	OMIM:605911
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Hypoglycemia, Elbow contracture, Umbilical hernia, Inguinal hernia	OMIM:620275
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglyc...	OMIM:251110
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria, Hyperbilirubinemia, Redu...	OMIM:227810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatini...	OMIM:608836
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Exercise-induced rhabdomyolysis, Hyperammonemia, E...	OMIM:201475
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Ataxia, Increased serum pyruvate, Diabetes mellitus, Abnormal mi...	ORPHA:2609
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Gait ataxia	OMIM:254900
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype...	ORPHA:3008
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Splenomegaly, Hepatoblastoma, Hy...	ORPHA:116
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Glycosuria, Hyperbilirubinemia, Limb muscle wea...	OMIM:277900
Glycogen Storage Disease Ia	Decreased muscle mass, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Fasting hypoglyc...	OMIM:232200
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Chorea, Neonatal hypoglycemia	OMIM:617600
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine...	OMIM:255120
D-Glyceric Aciduria	Hypoglycemia, Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure ...	OMIM:220120
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased...	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Gait ataxia, Ragged-red muscle fibers, Hyperprolinemia, Hyperalaninemia, Ataxia	OMIM:620451
Classic Galactosemia	Hypoglycemia, Ataxia	ORPHA:79239
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Macroglossia, Flexion contracture, Hernia	ORPHA:505248
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste...	ORPHA:186
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia	OMIM:201400
Juvenile Polyposis Syndrome	Rectocele, Multiple lipomas, Hypoproteinemia, Failure to thrive	ORPHA:2929
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:157
Congenital Disorder Of Glycosylation, Type Iiaa	Hypoglycemia, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture	OMIM:620454
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Familial Glucocorticoid Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Weig...	ORPHA:361
Leigh Syndrome	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Chorea, Multiple joint contractures, My...	ORPHA:506
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Inguinal hernia, Hypoglycemia	ORPHA:397590
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Subcutaneous lipoma	ORPHA:79076
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Primary Sclerosing Cholangitis	Hypoalbuminemia, Type I diabetes mellitus, Weight loss, Generalized amyotrophy	ORPHA:171
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Timothy Syndrome	Hypocalcemia, Hypoglycemia	OMIM:601005
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Hypog...	ORPHA:17
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Elevated circulating glutaric acid concentration, Ataxia, Neonatal hyp...	ORPHA:66634
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia,...	ORPHA:746
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Small for gestational age, Hypocalcemia, Failure to thrive	OMIM:607143
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion cont...	OMIM:609069
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:90790
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
Acute Adrenal Insufficiency	Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Hyperalaninemia, Failure to thrive	OMIM:620646
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Failure to thrive, Hyper...	ORPHA:508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased circulating carnitine concentration, Hypoglycemia	OMIM:201450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Skeletal muscle atrophy, Failure to thrive, Painless fractures due to injury,...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Glycerol Kinase Deficiency	Muscular dystrophy, Hypoglycemia, Myopathy, Hypertriglyceridemia, Hyperglycerolemia, Small for ge...	OMIM:307030
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy...	ORPHA:99826
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Immunodeficiency 10	Hypoglycemia, Amelogenesis imperfecta, Myopathy	OMIM:612783
Silver-Russell Syndrome 1	Small for gestational age, Fasting hypoglycemia	OMIM:180860
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased body weight	OMIM:617053
Silver-Russell Syndrome	Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia, Failure to thrive in infancy, ...	ORPHA:813
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Neonatal hyp...	ORPHA:90791
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Contracture of the proximal interphalangeal joint of the 4th toe, Congenital muscular torticollis...	ORPHA:457279
Basilicata-Akhtar Syndrome	Camptodactyly, Neonatal hypoglycemia	OMIM:301032
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Ragged-red muscle fibers, Hyperalaninem...	OMIM:252010
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Hypoglycemia, Myopathy, Cachexia, Lipoma	ORPHA:109
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Failure to thrive, Joint contracture	OMIM:618005
Addison Disease	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased...	ORPHA:85138
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Neonatal hypoglycemia, Diastasis recti	ORPHA:457485
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Hypoglycemia, Torticollis, Athetosis, Choreoathetosis	OMIM:620224
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma	OMIM:131100
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, Small for gestational age, Hypoglycemia, Umbilical hernia	OMIM:614501
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Exocrine pancreatic insufficiency, Portal hypertensio...	OMIM:243800
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Ragged-red muscle fibers,...	OMIM:124000
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoglycemia	ORPHA:95496
Wars2-Related Combined Oxidative Phosphorylation Defect	Dysmetria, Limb hypertonia, Ataxia, Athetosis, Neonatal hypoglycemia, Generalized amyotrophy	ORPHA:572798
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia	OMIM:231680
Shashi-Pena Syndrome	Limb hypertonia, Hypoglycemia	OMIM:617190
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Ataxia	ORPHA:20
Tenorio Syndrome	Macroglossia, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia, Rhabdomyolysis, Elevated circulating creatine kinase concentration	OMIM:614921
Shigellosis	Hypoglycemia, Failure to thrive in infancy, Rhabdomyolysis, Hyponatremia, Abnormal blood ion conc...	ORPHA:810
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Fa...	OMIM:270400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia	OMIM:246450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:228308
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Hyperam...	ORPHA:79282
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Hypoglycemia, Flexion contracture, Distal sensory impairment	OMIM:616007
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Neonatal hypoglycemia, Choreoathetosis, Ataxia	OMIM:616271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia...	ORPHA:79259
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Holoprosencephaly	Hypoglycemia, Failure to thrive in infancy, Chorea, Congenital diaphragmatic hernia, Hyponatremia...	ORPHA:2162
Tyrosinemia, Type I	Hypermethioninemia, Failure to thrive, Hypoglycemia, Hypophosphatemic rickets, Hypertyrosinemia, ...	OMIM:276700
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Glycogen Storage Disease Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232220
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Weight loss, Hypernatremia, Hypoalbuminemia	OMIM:619381
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Obesity, Hypoglycemia	ORPHA:91355
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures	ORPHA:565624
Perlman Syndrome	Large for gestational age, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic...	OMIM:267000
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Chorea, Inguinal he...	ORPHA:565
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia	OMIM:620423
Oculodentodigital Dysplasia	Hypoglycemia, Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Ataxia	ORPHA:2710
Fructose Intolerance, Hereditary	Failure to thrive, Hypoglycemia, Glycosuria, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia,...	OMIM:229600
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Athetosis, Fasting hypoglycemia, Ataxia	ORPHA:25
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia	ORPHA:293978
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2331
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Hyperammonemia, Dysmetria, Left ...	OMIM:220111
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Choreoathetosis	ORPHA:445038
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia	ORPHA:35173
Sotos Syndrome	Increased body weight, Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Failure to thrive, Decreased muscle mass, Fasting hypoglycemia, Small for ges...	ORPHA:96182
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Decreased circul...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Decreased circul...	ORPHA:289548
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia	ORPHA:469
Leptospirosis	Hyperproteinemia, Rhabdomyolysis	ORPHA:509
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Cachexia, 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	Obesity, Hypoglycemia, Umbilical hernia	OMIM:301066
Pmm2-Cdg	Hypoalbuminemia, Insulin resistance, Failure to thrive, Hyperinsulinemia, Multiple joint contract...	ORPHA:79318
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Diarrhea, Increased circulating cortisol level, Insulinoma, Esophagitis, Abn...	ORPHA:276152
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Macroglossia, Overweight, Hypoglycemia, Umbilical hernia	ORPHA:226307
Simpson-Golabi-Behmel Syndrome	Hypoglycemia, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmati...	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	Slender build, Large for gestational age, Gait ataxia, Facial hypotonia, Neonatal hypoglycemia	ORPHA:457359
Congenital Syphilis	Hypoglycemia	ORPHA:499009
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia	ORPHA:137675
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Hypoglycemia, Decreased circulating renin level, Hyponatremia, Dec...	OMIM:201750
Costello Syndrome	Failure to thrive, Hypoglycemia, Achilles tendon contracture, Macroglossia, Rhabdomyosarcoma	OMIM:218040
Acute Liver Failure	Pain insensitivity, Hyperammonemia, Hypoglycemia, Ataxia	ORPHA:90062
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Weight loss, Hyperkalemia,...	ORPHA:90794
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Neonatal hypoglycemia, Myopathy	OMIM:261740
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Beckwith-Wiedemann Syndrome	Macroglossia, Neonatal hypoglycemia, Diastasis recti, Omphalocele	OMIM:130650
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Failure to thrive	OMIM:617248
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Sotos Syndrome	Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda...	ORPHA:821
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Holoprosencephaly 1	Hypoglycemia	OMIM:236100

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us