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Gene: Rraga MGI:1915691

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Ras-related GTP binding A
Synonyms:
1300010C19Rik,  FIP-1

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 Rraga mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia OMIM:222730
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease Vi
Hypoglycemia OMIM:232700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia ORPHA:293964
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Hypoglycemia OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Death in childhood OMIM:246900
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Aminoaciduria, Hypoglycemia OMIM:619386
2P21 Microdeletion Syndrome
Hypoglycemia, Cystinuria ORPHA:163693
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Propionic Acidemia
Hypoglycemia ORPHA:35
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ... ORPHA:276575
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mehmo Syndrome
Hypoglycemia OMIM:300148
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in infancy, Hypoglycemia, Death in childhood OMIM:245400
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Hypoglycemia, Death in adolescence, Aminoaciduria, Death in childhood, Neonatal... OMIM:619055
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hyperglycinuria OMIM:201450
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia ORPHA:369
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... ORPHA:97279
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Death in childhood OMIM:611126
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia OMIM:619046
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hypoglycemia, Generalized aminoaciduria, Glycosuria OMIM:231680
Laron Syndrome
Hypoglycemia ORPHA:633
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neonatal hypog... ORPHA:263455
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Death in childhood OMIM:246450
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia OMIM:617049
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Propionic Acidemia
Hypoglycemia, Hyperglycinuria OMIM:606054
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia ORPHA:95496
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Cystinuria OMIM:606407
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration, Hypoglycemia ORPHA:230
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Generalized aminoaciduria, Fasting hypoglycemia, G... ORPHA:2088
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:79644
Classic Galactosemia
Hypoglycemia ORPHA:79239
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia OMIM:220120
Cog8-Cdg
Hypoglycemia ORPHA:95428
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Wildervanck Syndrome
Meningocele ORPHA:3456
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Timothy Syndrome
Hypoglycemia OMIM:601005
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Death in infancy, Elevated circulating creatinine concentration, Hypogly... OMIM:608836
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Humero-Radial Synostosis
Meningocele ORPHA:3265
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia OMIM:251000
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Reni Syndrome
Hypoglycemia OMIM:617575
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria OMIM:210210
Pancreatic And Cerebellar Agenesis
Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... ORPHA:71212
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Death in infancy, Hypoglycemia OMIM:617156
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia OMIM:255120
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Hypoketotic hypoglycemia OMIM:610768
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Generalized aminoaciduria OMIM:251880
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Aminoaciduria, Recurrent hypoglycemia, Neonatal death, Hyperglycemia OMIM:124000
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia OMIM:607143
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Cholera
Miscarriage, Hypoglycemia ORPHA:173
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Hypoglycemia OMIM:608779
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia ORPHA:264580
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Fasting hypoglycemia, Glycosuria OMIM:227810
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Ketotic hypoglycemia, Fasting hypoglycemia ORPHA:79240
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Glycogen Storage Disease Ia
Hypoglycemia, Fasting hypoglycemia OMIM:232200
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Leigh Syndrome
Hypoglycemia, Generalized aminoaciduria ORPHA:506
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Mirage Syndrome
Hypoglycemia OMIM:617053
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia OMIM:617093
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia ORPHA:2609
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia OMIM:117550
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia OMIM:609015
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia ORPHA:445038
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypoglycemia ORPHA:199299
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia OMIM:614921
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia OMIM:616271
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia ORPHA:66634
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia ORPHA:90790
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia ORPHA:746
Tyrosinemia, Type I
Hypertyrosinemia, Hypoglycemia OMIM:276700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Hypoglycemia OMIM:256810
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Neonatal hypoglycemia OMIM:619418
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia ORPHA:26793
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia ORPHA:20
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Sheehan Syndrome
Hypoglycemia ORPHA:91355
Shigellosis
Hypoglycemia ORPHA:810
Glycogen Storage Disease Ib
Hypoglycemia OMIM:232220
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Hypoglycemia OMIM:252010
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Holoprosencephaly
Diabetes mellitus, Hypoglycemia ORPHA:2162
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Death in infancy, Neonatal hypoglycemia OMIM:617248
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hypoglycemia, Glycosuria OMIM:229600
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Generalized aminoaciduria, Glycosuria ORPHA:3337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia ORPHA:17
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia ORPHA:96182
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia ORPHA:157
Deeah Syndrome
Death in infancy, Death in adolescence, Neonatal hypoglycemia, Death in childhood OMIM:619004
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia ORPHA:79282
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Acute Adrenal Insufficiency
Hypoglycemia ORPHA:95409
Perlman Syndrome
Hypoglycemia OMIM:267000
Alg12-Cdg
Recurrent hypoglycemia ORPHA:79324
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Glycerol Kinase Deficiency
Hypoglycemia OMIM:307030
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia ORPHA:228308
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... ORPHA:508
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hypoglycemic seizures ORPHA:79259
Addison Disease
Type I diabetes mellitus, Hypoglycemia ORPHA:85138
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Menkes Disease
Hypoglycemia ORPHA:565
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoglycemia ORPHA:373
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Glycogen Storage Disease Ic
Hypoglycemia OMIM:232240
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia ORPHA:226307
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Hypoglycemia ORPHA:99826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia OMIM:613658
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Hyperglycemia, Hypoglycemia OMIM:220111
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Nail-Patella Syndrome
Spina bifida OMIM:161200
Costello Syndrome
Hypoglycemia OMIM:218040
Beckwith-Wiedemann Syndrome
Hypoglycemia, Neonatal hypoglycemia ORPHA:116
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
Fibular Hemimelia
Spina bifida ORPHA:93323
Acute Liver Failure
Hypoglycemia ORPHA:90062
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
22Q11.2 Deletion Syndrome
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia, Intrauter... ORPHA:567
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Neonatal hypoglycemia ORPHA:90794
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ... OMIM:256520
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Fanconi Anemia
Umbilical hernia, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:84
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Aicardi Syndrome
Spina bifida OMIM:304050
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation OMIM:192350
Arima Syndrome
Occipital meningocele OMIM:243910
Marfan Syndrome
Meningocele ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Sotos Syndrome
Neonatal hypoglycemia ORPHA:821
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Rraga

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 Rraga.

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

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