Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, incomplete penetrance Glg1tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating triglyceride level Glg1tm1a(KOMP)Wtsi HET Early adult 8.03×10-05
abnormal vertebral arch morphology Glg1tm1a(KOMP)Wtsi HET   Early adult 4.87×10-05
increased circulating glycerol level Glg1tm1a(KOMP)Wtsi HET Early adult 8.29×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 90 images

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, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia 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, Scoliosis, Hypertriglyceridemia, Elevated circulating cr... OMIM:616516
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Broad philtr... OMIM:620045
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Feeding difficulties, Micrognathia, Gastrostomy ... ORPHA:141152
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Camptodactyly of finger, Elbow flexion contrac... OMIM:619110
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Advanced ossification of carpal bones,... OMIM:618363
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... ORPHA:1201
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia, Glossoptosis, ... ORPHA:3104
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Congenital Sucrase-Isomaltase Deficiency
Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa... ORPHA:35122
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Cachexia, Weight loss,... OMIM:613662
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lacunar halos around chondrocytes, Lumbar hyperlordosis, Microg... OMIM:256050
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Scoliosis, Hypertriglyceridemia OMIM:619013
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy distortion of vertebrae, Microdontia... ORPHA:1248
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98855
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98863
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Intrauterine growth retardation, Micrognathia, Obesity, Narrow mouth, Feeding diffic... ORPHA:96184
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Wolman Disease
Acute hepatic failure, Vomiting, Failure to thrive, Abdominal distention OMIM:620151
Adiposis Dolorosa
Obesity, Constipation, Abdominal distention OMIM:103200
Temple Syndrome
Hypercholesterolemia, Scoliosis, Hypertriglyceridemia OMIM:616222
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:261
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocation, Knee dislocation, Micrognathia, ... OMIM:108721
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Hypertriglyceridemia OMIM:615381
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hip dislocation, Delayed vertebral ossification, Genu valgum, Butterfly vertebrae, Kyphoscoliosis... OMIM:613330
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Abdominal distention, Flat acetabular roof, Scoliosis, Hip dislocation OMIM:619345
Smith-Magenis Syndrome
Hypercholesterolemia, Scoliosis, Hypertriglyceridemia OMIM:182290
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Hypo... ORPHA:3010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulat... OMIM:615980
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Slender build, Intervertebral disk degeneration, Fl... ORPHA:3168
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Long philtrum, Decreased liver... OMIM:608104
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Malar flattening, Abdominal distention OMIM:600972
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, C1-C2 subluxation, Hyperlordosis,... OMIM:184250
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Glucose/Galactose Malabsorption
Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Dystonia-Deafness Syndrome 1
Cleft upper lip, Pseudobulbar paralysis, Kyphoscoliosis, Achalasia, Dysphagia, Small for gestatio... OMIM:607371
Smith-Magenis Syndrome
Hypercholesterolemia, Scoliosis, Abnormal form of the vertebral bodies, Hypertriglyceridemia ORPHA:819
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Weight loss, Abdominal distention, Abdominal pain ORPHA:90003
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Cachexia, Weight loss, Gastrointestinal dysm... ORPHA:298
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula... OMIM:602557
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr... ORPHA:2916
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Cleft ... OMIM:618469
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Micrognathia, Protuberant abdomen, Kyphosis, Sacral dimple OMIM:618272
Schneckenbecken Dysplasia
Platyspondyly, Stillbirth, Malar flattening, Ovoid vertebral bodies, Narrow vertebral interpedicu... OMIM:269250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Meckel Syndrome, Type 8
Short neck, Cleft upper lip, Cleft palate, Abdominal distention OMIM:613885
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Abdominal distention OMIM:174050
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Werner Syndrome
Low back pain, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Malar flattening, Abdominal distention, Cleft palate, Genu varum, Abnormal carpal ... ORPHA:85166
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Alkaptonuria
Intervertebral disk degeneration, Arthropathy, Low back pain, Arthritis, Limitation of knee mobil... OMIM:203500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Premature osteoarthri... ORPHA:93352
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Cachexia, Abdominal distention, Steatorrhea, ... ORPHA:75233
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hyperlordosis, Hypertriglyceridemia, Scoliosi... OMIM:613327
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage morphology, Hypoplastic vertebral bodies, Short neck, Protubera... ORPHA:2347
Microtriplication 11Q24.1
Hyperlipidemia, Short neck, Scoliosis ORPHA:289522
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Decreased body weight, N... ORPHA:51890
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Camptodactyly of finger, Protrusio acetabuli, Ost... ORPHA:284984
Achondrogenesis Type 1A
Short neck, Micrognathia, Long philtrum, Abdominal distention ORPHA:93299
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Absent vertebral body mineralization, Protuberant abdomen, Stil... OMIM:200610
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Loeys-Dietz Syndrome 6
Bifid uvula, Hip osteoarthritis, Broad uvula, Osteochondritis dissecans, Intervertebral disk dege... OMIM:619656
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Failure to thrive, Intrauterine growth retardation, Lum... ORPHA:1830
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, Constipation, Protuberant abdomen, Ab... ORPHA:226313
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Micrognathia, Short neck, Protuberant abdomen, High palate, Scol... OMIM:616038
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Abdominal distention, Abdominal pain ORPHA:83469
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplastic acetabulae, Abnormality of the ankle, Failure to thrive, Hypoplasia of... ORPHA:239
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Familial Chylomicronemia Syndrome
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia ORPHA:444490
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Intrauterine growth retar... ORPHA:1724
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Micrognathia, Malar flattening, Alveolar ridge overg... OMIM:235255
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Digeorge Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Obesity, Micrognathia, Intervertebral ... OMIM:188400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphoscoliosis, Hypertriglyceridemia, Kyphosis, Sacral dimple ORPHA:536532
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, K... OMIM:176270
Atelosteogenesis, Type I
Elbow dislocation, Stillbirth, Knee dislocation, Thoracic platyspondyly, Micrognathia, Malar flat... OMIM:108720
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Loeys-Dietz Syndrome 3
Bifid uvula, Hip osteoarthritis, Dental malocclusion, Retrognathia, Protrusio acetabuli, Osteocho... OMIM:613795
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Donohue Syndrome
Thick lower lip vermilion, Intrauterine growth retardation, Gingival overgrowth, Severe failure t... OMIM:246200
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distentio... ORPHA:100924
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Failure to thrive, Recurrent aphthous stomatitis, Abdominal pain, Weight loss... OMIM:212750
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Elevated hemoglobin... OMIM:203800
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Ovarian Fibroma
Abdominal pain, Peritonitis, Odontogenic keratocysts of the jaw, Abdominal distention ORPHA:314473
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Intrauterine growth retardation, Knee contracture, Abdominal distention,... OMIM:620275
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Currarino Syndrome
Anal stenosis, Presacral teratoma, Absence of the sacrum, Bifid sacrum, Chronic constipation, Ana... OMIM:176450
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Peritonitis, Abdominal rigidity, Ab... ORPHA:391673
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Failure to thrive, Arthritis, Abdominal distention OMIM:619423
Lead Poisoning
Vomiting, Delayed eruption of teeth, Anorexia, Nausea, Constipation, Abdominal distention, Abdomi... ORPHA:330015
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Scoliosis, Hypertriglyceridemia ORPHA:369837
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Short neck, Scoliosis, Kyphosis ORPHA:254346
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Neoplasm of the oral cavity, Micrognathia, Intervertebral d... ORPHA:79474
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Abdominal distention, Verteb... OMIM:271520
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Micrognathia, Alveolar ridge overgrowth, Thin upper ... ORPHA:1655
H Syndrome
Hypertriglyceridemia ORPHA:168569
Familial Visceral Myopathy
Camptodactyly of finger, Micrognathia, Aganglionic megacolon, Abdominal distention, Cleft palate ORPHA:2604
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Pancreatoblastoma
Diarrhea, Vomiting, Weight loss, Abdominal distention, Abdominal pain ORPHA:677
Peripheral Primitive Neuroectodermal Tumor
Abdominal distention, Abnormal thoracic spine morphology, Nausea and vomiting, Episodic abdominal... ORPHA:370348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Back pain ORPHA:439232
Alagille Syndrome 1
Hypercholesterolemia, Butterfly vertebral arch, Hemivertebrae, Hypertriglyceridemia OMIM:118450
Thyroid Hypoplasia
Macroglossia, Constipation, Abdominal distention ORPHA:95720
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Weight loss, Abdominal distention, Macrog... ORPHA:85443
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Failure to thrive, Thin upper lip vermilion, Abdominal distent... OMIM:620233
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Oral ulcer, Arthritis, Abdominal distention, Abdominal pain ORPHA:93552
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Alternating Hemiplegia Of Childhood
Diarrhea, Abdominal distention, Failure to thrive, Oral-pharyngeal dysphagia, Downturned corners ... ORPHA:2131
Meckel Syndrome 14
Microretrognathia, Retrognathia, Micrognathia, Short neck, Protuberant abdomen, Abdominal distention OMIM:619879
Polyembryoma
Abdominal pain, Abnormal sacrum morphology, Abdominal distention ORPHA:180229
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Glycerol Kinase Deficiency
Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Smith-Lemli-Opitz Syndrome
Micrognathia, Abdominal distention, Hip dislocation, Gastroesophageal reflux, Hip subluxation, Cl... OMIM:270400
Gonadoblastoma
Abdominal pain, Abdominal distention ORPHA:206484
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Congenital pyloric atresia, Nausea and vomiting, Oral mucosal blisters, Intestinal atr... ORPHA:79403
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Weight loss, Anorexia, Nausea ORPHA:100085
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... ORPHA:77293
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Abdominal distention, S... ORPHA:309031
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Ovarian Fibrothecoma
Abdominal pain, Peritonitis, Abdominal distention ORPHA:314478
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon, Abdominal distention OMIM:619362
Gallbladder Neuroendocrine Tumor
Abdominal distention, Episodic abdominal pain, Weight loss, Anorexia, Nausea ORPHA:100086
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Weight loss, Abdominal distention, Abdominal pain ORPHA:160
Viss Syndrome
Recurrent joint dislocation, Micrognathia, Cleft soft palate, Genu valgum, Chronic constipation, ... OMIM:619472
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Abdominal distention OMIM:214700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:269700
Pyknoachondrogenesis
Craniofacial hyperostosis, Unossified sacrum, Poorly ossified vertebrae, Abnormality of mouth sha... ORPHA:3003
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Vomiting, Failure to thrive, Malabsorption, Joint swelling, Feeding difficulties ... ORPHA:3260
Wiedemann-Rautenstrauch Syndrome
Cervical vertebral dysplasia, Kyphoscoliosis, Hypoplastic vertebral bodies, Atlantoaxial abnormal... ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, H... OMIM:256040
Cirrhosis, Familial
Fulminant hepatitis, Esophageal varix, Abdominal distention OMIM:215600
Wiedemann-Rautenstrauch Syndrome
Short neck, Scoliosis, Hypertriglyceridemia OMIM:264090
Multiple Endocrine Neoplasia Type 2
Diarrhea, Abdominal distention, Abnormal tongue morphology, Ganglioneuromatosis, Kyphoscoliosis, ... ORPHA:653
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Nausea ORPHA:521219
Bardet-Biedl Syndrome
Short neck, Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:110
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Neuroblastoma
Weight loss, Chronic diarrhea, Abdominal distention ORPHA:635
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Ovarian Hyperstimulation Syndrome
Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention ORPHA:64739
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Short neck, Rectal atresia, Abdominal distention, Anal atresia OMIM:617666
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Intrauterine growth retardation, Failure to thrive, Abdominal distention OMIM:617156
Fanconi-Bickel Syndrome
Malabsorption, Failure to thrive, Poor appetite, Abdominal distention OMIM:227810
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Reye syndrome-like... OMIM:256810
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Abdominal distention, Hypoperistalsis ORPHA:2241
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retarda... ORPHA:436252
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Myhre Syndrome
Platyspondyly, Vertebral fusion, Enlarged vertebral pedicles, Short neck OMIM:139210
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... ORPHA:666
Hereditary Spherocytosis
Abdominal pain, Gout, Abdominal distention ORPHA:822
X-Linked Acrogigantism
Abdominal distention, Diastema, Increased body mass index ORPHA:300373
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Leprechaunism
Megarectum, Abdominal distention, Failure to thrive, Thick vermilion border, Decreased body weigh... ORPHA:508
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Abdominal distention, Oral mucosal blisters ORPHA:158684
Thyroid Ectopia
Macroglossia, Constipation, Dysphagia, Abdominal distention ORPHA:95712
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Cleft upper lip, Absent or minimally ossified vertebral bodies, Mic... ORPHA:93271
Primary Biliary Cholangitis
Hepatic failure, Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Celiac disease... ORPHA:186
Wilson Disease
Hepatic failure, Chondrocalcinosis, Vomiting, Acute hepatic failure, Osteoarthritis, Abdominal di... OMIM:277900
Liver Disease, Severe Congenital
Dependency on parenteral nutrition, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiti... OMIM:619991
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention ORPHA:309271
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Feeding difficulties in infancy, Constipation, Abdominal distention OMIM:218700
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Vomiting, Delayed eruption of teeth, Wid... OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Ileal atresia, Abdominal distention OMIM:619351
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Abdominal distention, Oral synechia, Oral-pharyngeal dysphagia, Oral mucosa... ORPHA:95455
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Scoliosis ORPHA:293987
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Kasabach-Merritt Phenomenon
Abdominal pain, Abdominal distention ORPHA:2330
Alström Syndrome
Hyperlipidemia, Thoracic scoliosis, Lumbar scoliosis, Hypertriglyceridemia, Kyphosis ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Failure to thrive, Knee dislocation, Neonatal death, Everted lower lip v... OMIM:619534
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Atresia Of Urethra
Abdominal distention ORPHA:105
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Multicystic Dysplastic Kidney
Abdominal distention ORPHA:1851
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