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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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, 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
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia OMIM:222730
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
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
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... ORPHA:324575
Glycogen Storage Disease Vi
Hypoglycemia OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
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, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia,... ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Hypoglycemia OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia OMIM:620211
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Death in infancy, Hypoglycemia OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Dihydrolipoamide Dehydrogenase Deficiency
Death in childhood, Hypoglycemia OMIM:246900
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
2P21 Microdeletion Syndrome
Cystinuria, Hypoglycemia ORPHA:163693
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
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly... ORPHA:276556
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276575
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
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Death in childhood, Hypoglycemia, Neonatal death OMIM:245400
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Neonatal death OMIM:618839
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in adole... OMIM:619055
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
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
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... ORPHA:552
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia ORPHA:369
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Nonket... ORPHA:97279
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia OMIM:261680
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia ORPHA:631
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Death in childhood, Hypoglycemia OMIM:611126
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Hypoglycemia OMIM:201450
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Hypoglycemia, Neonatal death OMIM:620300
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Death in infancy OMIM:619046
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glycosuria, Hypoglycemia, Neonatal death OMIM:231680
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Laron Syndrome
Hypoglycemia ORPHA:633
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:263455
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Long-Olsen-Distelmaier Syndrome
Death in childhood, Hypoglycemia OMIM:620609
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia ORPHA:35708
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia ORPHA:79644
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Propionic Acidemia
Hyperglycinuria, Hypoglycemia OMIM:606054
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia ORPHA:95496
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia OMIM:617049
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Hypotonia-Cystinuria Syndrome
Cystinuria, Neonatal hypoglycemia OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia OMIM:620275
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia, Hypoglycemia ORPHA:230
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia, Diabetes... ORPHA:2088
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Classic Galactosemia
Hypoglycemia ORPHA:79239
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho... ORPHA:1908
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Cog8-Cdg
Hypoglycemia ORPHA:95428
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Maple Syrup Urine Disease, Type Ia
Hypoglycemia OMIM:248600
Timothy Syndrome
Hypoglycemia OMIM:601005
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia OMIM:220120
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia ORPHA:348
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Wildervanck Syndrome
Meningocele ORPHA:3456
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Elevated circulating creatinine concentration, Nonketotic hypoglycemia, Hypogly... OMIM:608836
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
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
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy OMIM:201475
Reni Syndrome
Hypoglycemia OMIM:617575
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Death in infancy, Hypoglycemia OMIM:609069
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia OMIM:605911
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... ORPHA:71212
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Hypoglycemia OMIM:210210
Immunodeficiency 10
Hypoglycemia OMIM:612783
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia OMIM:251000
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Death in infancy, Hypoglycemia OMIM:617156
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy OMIM:610768
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Death in childhood, Hypoglycemia OMIM:246450
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Neonatal death, Hypertyrosinemia OMIM:124000
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia OMIM:607143
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia OMIM:251880
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Cholera
Hypoglycemia, Miscarriage ORPHA:173
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Hypoglycemia OMIM:608779
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia OMIM:620646
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Glycosuria, Fasting hypoglycemia OMIM:227810
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia ORPHA:264580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia ORPHA:79240
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Methylmalonic Aciduria, Cblb Type
Hypoglycemia OMIM:251110
Triploidy
Intrauterine growth retardation, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Mirage Syndrome
Hypoglycemia OMIM:617053
Glycogen Storage Disease Ia
Hypoglycemia, Fasting hypoglycemia OMIM:232200
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia OMIM:255120
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia ORPHA:2609
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia OMIM:617093
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Leigh Syndrome
Generalized aminoaciduria, Hypoglycemia ORPHA:506
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia OMIM:620454
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypoglycemia ORPHA:199299
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
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
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Intrauterine growth retardation, Umbilical hernia ORPHA:2311
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia OMIM:614921
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele ORPHA:1393
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... ORPHA:63259
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia ORPHA:361
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele OMIM:614424
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia OMIM:616271
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia ORPHA:66634
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia ORPHA:90790
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Recurrent hypoglycemia OMIM:256810
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia ORPHA:746
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia ORPHA:20
Congenital Syphilis
Hypoglycemia ORPHA:499009
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia ORPHA:26793
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Hypoglycemia OMIM:619418
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Tyrosinemia, Type I
Hypertyrosinemia, Hypoglycemia OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Hypoglycemia OMIM:252010
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Shigellosis
Hypoglycemia ORPHA:810
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Sheehan Syndrome
Hypoglycemia ORPHA:91355
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Glycogen Storage Disease Ib
Hypoglycemia OMIM:232220
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Holoprosencephaly
Diabetes mellitus, Hypoglycemia ORPHA:2162
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Death in infancy, Neonatal death OMIM:617248
Fructose Intolerance, Hereditary
Transient aminoaciduria, Glycosuria, Hypoglycemia OMIM:229600
Deeah Syndrome
Death in adolescence, Neonatal hypoglycemia, Death in childhood, Death in infancy OMIM:619004
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia ORPHA:96182
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypoglycemia ORPHA:3337
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia ORPHA:157
Alg12-Cdg
Recurrent hypoglycemia ORPHA:79324
Acute Adrenal Insufficiency
Hypoglycemia ORPHA:95409
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia ORPHA:79282
Perlman Syndrome
Hypoglycemia OMIM:267000
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia ORPHA:79259
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia ORPHA:228308
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi... ORPHA:508
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Menkes Disease
Hypoglycemia ORPHA:565
Addison Disease
Type I diabetes mellitus, Hypoglycemia ORPHA:85138
Glycogen Storage Disease Ic
Hypoglycemia OMIM:232240
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoglycemia ORPHA:373
Glycerol Kinase Deficiency
Hypoglycemia OMIM:307030
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
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
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia OMIM:613658
Trisomy 18
Intrauterine growth retardation, Holoprosencephaly, Anencephaly, Spina bifida ORPHA:3380
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Death in infancy, Hypoglycemia OMIM:220111
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ... ORPHA:2369
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Nail-Patella Syndrome
Spina bifida OMIM:161200
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Costello Syndrome
Hypoglycemia OMIM:218040
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hypoglycemia ORPHA:116
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Fibular Hemimelia
Spina bifida ORPHA:93323
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Acute Liver Failure
Hypoglycemia ORPHA:90062
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ... OMIM:256520
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia, Miscarriage ORPHA:90794
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Meningocele ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Fanconi Anemia
Hydrocephalus, Intrauterine growth retardation, Spina bifida, Umbilical hernia ORPHA:84
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
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, Spinal dysraphism, Spina bifida OMIM:114290
Aicardi Syndrome
Spina bifida OMIM:304050
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Vater/Vacterl Association
Intrauterine growth retardation, Patent urachus, Occipital encephalocele, Spina bifida OMIM:192350
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Arima Syndrome
Occipital meningocele OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Marfan Syndrome
Meningocele ORPHA:558
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Spina bifida, Umbilical hernia OMIM:304120
Femoral-Facial Syndrome
Encephalocele, Spina bifida OMIM:134780
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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