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Gene: Glg1 MGI:104967

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Gene Summary

Name:
golgi apparatus protein 1
Synonyms:
MG-160,  MG160,  ESL-1,  CFR,  Selel,  CFR-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vertebral arch morphology Glg1tm1a(KOMP)Wtsi HET   Early adult 4.87×10-05
increased circulating triglyceride level Glg1tm1a(KOMP)Wtsi HET Early adult 8.03×10-05
increased circulating glycerol level Glg1tm1a(KOMP)Wtsi HET Early adult 8.29×10-05
preweaning lethality, incomplete penetrance Glg1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Glg1tm1a(KOMP)Wtsi
HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 90 images

Glg1tm1a(KOMP)Wtsi
right eye, narrow eye opening, HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
corneal opacity, HET, Female, WTSI
Glg1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Glg1 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 Glg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... OMIM:620045
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat... ORPHA:141152
Arthrogryposis, Distal, Type 1C
Pursed lips, Decreased body weight, Hip contracture, Camptodactyly of finger, Short neck, Cleft l... OMIM:619110
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate, Abnormal vertebral morphology ORPHA:2015
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate, ... ORPHA:3104
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space... OMIM:256050
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Scoliosis OMIM:619013
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Vertebral clefting, Cleft palate, To... ORPHA:1248
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity OMIM:103200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Micrognathia, Pyloric stenosis, Obesity, Cleft palate, Feeding difficu... ORPHA:96184
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis OMIM:616222
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:261
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina... ORPHA:2924
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hypertriglyceridemia, Scoliosis OMIM:615381
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis OMIM:182290
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... ORPHA:93311
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof, Scoliosis OMIM:619345
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Thoracic kyphoscoliosis, Back pain, Small for gestational age, Ky... OMIM:613330
Atelosteogenesis, Type Iii
Cervical segmentation defect, Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Elbow d... OMIM:108721
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Delayed oss... ORPHA:3010
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Slender build, Abnormal vertebral morp... ORPHA:3168
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Achondrogenesis, Type Ib
Malar flattening, Stillbirth, Abdominal distention, Absent or minimally ossified vertebral bodies OMIM:600972
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver... OMIM:608104
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulating creatine kin... OMIM:615980
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Genu valgum, Platyspondyly, Prot... OMIM:184250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Loeys-Dietz Syndrome 6
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Dystonia-Deafness Syndrome 1
Small for gestational age, Kyphoscoliosis, Cleft upper lip, Cleft palate, Pseudobulbar paralysis,... OMIM:607371
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Abnormal form of the vertebral bodies ORPHA:819
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... ORPHA:298
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Antecubital pterygium, Cleft palate, Fus... OMIM:618469
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Abdominal distention, Genu varum, Platyspondyly, Thin vermilion... OMIM:602557
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... ORPHA:2916
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Micrognathia, Kyphosis, Protuberant abdomen OMIM:618272
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Abdominal distention OMIM:174050
Meckel Syndrome, Type 8
Abdominal distention, Short neck, Cleft palate, Cleft upper lip OMIM:613885
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, ... OMIM:269250
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Werner Syndrome
Low back pain, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Abnormal carpal morphology, Cleft palate, Platyspondyly, Malar flattening, ... ORPHA:85166
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperuricemia, Scoliosis OMIM:203800
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... ORPHA:75233
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl... OMIM:613327
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Abdominal distention, Premature osteoarthritis, Platyspondyly, Squared... ORPHA:93352
Lethal Kniest-Like Dysplasia
Short neck, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, Hypoplastic v... ORPHA:2347
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... ORPHA:284984
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Achondrogenesis Type 1A
Abdominal distention, Micrognathia, Short neck, Long philtrum ORPHA:93299
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Anorexia, Abdominal pain, Abdominal distention, Decreased body weight, Recurrent infec... ORPHA:51890
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Cleft palate, Stillbirth, Protuberant ab... OMIM:200610
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Macroglossia, C... ORPHA:226313
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Abdominal di... ORPHA:1830
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Microtriplication 11Q24.1
Hyperlipidemia, Scoliosis, Short neck ORPHA:289522
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malab... ORPHA:1876
Neu-Laxova Syndrome 2
Micrognathia, Short neck, Cleft palate, High palate, Protuberant abdomen, Scoliosis, Intrauterine... OMIM:616038
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss ORPHA:83469
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Cleft lip, Kyphosis, Spinal canal stenosis, Cleft palate, Chronic... ORPHA:1724
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Micrognathia, Short neck, Abdominal distention, Alveolar ridge overgrow... OMIM:235255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Failure to thrive ORPHA:369
Digeorge Syndrome
Pilonidal sinus, Micrognathia, High, narrow palate, Obesity, Cleft palate, High palate, Short phi... OMIM:188400
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration ORPHA:444490
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis ORPHA:536532
Loeys-Dietz Syndrome 3
Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis... OMIM:613795
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Atelosteogenesis, Type I
Micrognathia, Thoracic platyspondyly, Elbow dislocation, Short neck, Cleft palate, Knee dislocati... OMIM:108720
Donohue Syndrome
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Severe failure ... OMIM:246200
Celiac Disease, Susceptibility To, 1
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... OMIM:212750
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic... ORPHA:100924
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Ovarian Fibroma
Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain ORPHA:314473
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Weight loss, Vomiting, Nausea ORPHA:90003
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Knee contracture, Feeding difficulties, Gastroesophageal reflux, Intrauteri... OMIM:620275
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Gastroesophageal reflux, Abdominal distention OMIM:256300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Scoliosis ORPHA:369837
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Failure to thrive, Septic arthritis, Arthritis OMIM:619423
Currarino Syndrome
Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,... OMIM:176450
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Anorexia, Abdominal pain, Abdominal distent... ORPHA:330015
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Atypical Werner Syndrome
Micrognathia, Thin vermilion border, Decreased body weight, Failure to thrive, Neoplasm of the or... ORPHA:79474
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Abdominal distention, Hemivertebrae, Supernumerary... OMIM:271520
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Back pain, Abnormal thoracic spine morphology, Anorexia, Abdominal distentio... ORPHA:370348
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Short neck, Abdominal distention, Alveolar ridge overgrow... ORPHA:1655
H Syndrome
Hypertriglyceridemia ORPHA:168569
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Familial Visceral Myopathy
Aganglionic megacolon, Camptodactyly of finger, Micrognathia, Abdominal distention, Cleft palate ORPHA:2604
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
19P13.12 Microdeletion Syndrome
Kyphosis, Hyperlipidemia, Scoliosis, Short neck ORPHA:254346
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Thyroid Hypoplasia
Macroglossia, Constipation, Abdominal distention ORPHA:95720
Sepsis In Premature Infants
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... ORPHA:90051
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Polyembryoma
Abdominal distention, Abnormal sacrum morphology, Abdominal pain ORPHA:180229
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Macrog... ORPHA:85443
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Arthritis, Vomiting ORPHA:93552
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... ORPHA:2131
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Meckel Syndrome 14
Microretrognathia, Micrognathia, Short neck, Abdominal distention, Protuberant abdomen, Retrognathia OMIM:619879
Smith-Lemli-Opitz Syndrome
Dental crowding, Micrognathia, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, B... OMIM:270400
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Aapoaiv Amyloidosis
Back pain, Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal refl... OMIM:620233
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte... ORPHA:79403
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Acute Intermittent Porphyria
Nausea and vomiting, Back pain, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulb... ORPHA:79276
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Nausea ORPHA:100085
Ovarian Fibrothecoma
Abdominal distention, Peritonitis, Abdominal pain ORPHA:314478
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea ORPHA:100086
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea OMIM:214700
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Weight loss ORPHA:160
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... OMIM:619472
Pyknoachondrogenesis
Craniofacial hyperostosis, Abdominal distention, Poorly ossified vertebrae, Abnormality of mouth ... ORPHA:3003
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral bodies... ORPHA:3455
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distent... ORPHA:3260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Scoliosis, Short neck OMIM:264090
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Abnormal tongue morph... ORPHA:653
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... ORPHA:189427
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Fanconi-Bickel Syndrome
Abdominal distention, Failure to thrive, Poor appetite, Malabsorption OMIM:227810
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:521219
Fraser Syndrome 2
Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Narrow mouth, Anal atresia OMIM:617666
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:64739
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abdominal distention, Failure to thrive, Hepatic failure, Intrauterine growth retardation OMIM:617156
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Intestinal malrotation, Hypoperistalsis, Abdominal distention, Microcolon ORPHA:2241
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... ORPHA:436252
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... OMIM:256810
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Thyroid Ectopia
Macroglossia, Constipation, Abdominal distention ORPHA:95712
Hereditary Spherocytosis
Abdominal distention, Gout, Abdominal pain ORPHA:822
Wilson Disease
Acute hepatic failure, Abdominal distention, Osteoarthritis, Esophageal varix, Vomiting, Dysphagi... OMIM:277900
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
X-Linked Acrogigantism
Diastema, Abdominal distention, Increased body mass index ORPHA:300373
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Myhre Syndrome
Vertebral fusion, Enlarged vertebral pedicles, Platyspondyly, Short neck OMIM:139210
Leprechaunism
Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border, Severe intrauterine gr... ORPHA:508
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters ORPHA:158684
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation ORPHA:186
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Liver Disease, Severe Congenital
Chronic gastritis, Failure to thrive, Micrognathia, Abdominal distention, Diarrhea, Malnutrition,... OMIM:619991
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention OMIM:218700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Micrognathia, Esophageal atresia, Abdominal distention, Ectopic anus, Absent or ... ORPHA:93271
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Bowel incontinence ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Microcolon, Ileal atresia OMIM:619351
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... OMIM:235730
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd... ORPHA:95455
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Alström Syndrome
Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Lumbar scoliosis ORPHA:64
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Esophageal varix, Knee dislocation, Everted lower lip vermilion, Gastroesop... OMIM:619534
Atresia Of Urethra
Abdominal distention ORPHA:105
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Eisenmenger Syndrome
Abdominal distention ORPHA:97214

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 Glg1

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 Glg1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Glg1tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Glg1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Glg1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Glg1tm1a(KOMP)Wtsi Glg1tm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Glg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Glg1tm192253(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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