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Gene: Serpina3c MGI:102848

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Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade A, member 3C
Synonyms:
Kalbp,  1A1,  alpha-1 antiproteinase,  Klkbp

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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.

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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 Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Legacy Phenotype Associated Images
Serpina3ctm1a(KOMP)Wtsi
HOM, Male, WTSI
Serpina3ctm1a(KOMP)Wtsi
HOM, Male, WTSI
Serpina3ctm1a(KOMP)Wtsi
HOM, Male, WTSI
Serpina3ctm1a(KOMP)Wtsi
HOM, Male, WTSI
Serpina3ctm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 68 images

Human diseases caused by Serpina3c 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 Serpina3c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hypocalcemia,... OMIM:612526
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Pancreatitis, Diabetes mellitus, Lipoatrophy ORPHA:79084
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Lipodystrophy, Eleva... OMIM:615381
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Lipodystro... ORPHA:79085
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level, Diabetic ketoacidosis OMIM:615238
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Hypertriglyceridemia OMIM:619175
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Adipose tissue loss, Lipodystrophy, Hype... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, ... ORPHA:435651
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hyperuric... ORPHA:79083
Hypertriglyceridemia, Transient Infantile
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:614480
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Lipodystrophy, Pancreatitis, Loss of subcutaneous adipose tissue ... ORPHA:2348
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperuricemia, Hypercholes... OMIM:306000
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Skin rash, Hypertrigl... OMIM:617591
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Temple Syndrome
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hypercholesterolemia, Trun... OMIM:616222
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Jaundice, Hypertriglyceridemia, Conjunct... OMIM:603552
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased acid sphingomyelinase activity, Decreased HDL ... OMIM:607616
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Failure t... OMIM:605814
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles... OMIM:245900
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, De... ORPHA:280365
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating aspartate aminotransfera... OMIM:617253
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Elbow ... OMIM:214150
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98855
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased LDL cholesterol concentration, Hyperbilirubin... ORPHA:247598
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:261
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Cholesteryl Ester Storage Disease
Jaundice, Hepatic failure, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Citrullinemia, Type Ii, Adult-Onset
Elevated gamma-glutamyltransferase level, Hyperammonemia, Hyperargininemia, Pancreatitis, Elevate... OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hypertriglyceridemia, Recurrent sinusitis, Increased circulating ferritin concentration OMIM:613101
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Jaundice, Pann... ORPHA:60
Glycogen Storage Disease Iii
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Elevated c... OMIM:232400
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Abnormality of alkaline phosphatase level, Chronic otitis media, Hypertriglyceridemia OMIM:618010
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Fasting hypoglycemia, Hype... OMIM:613027
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Elev... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... OMIM:608594
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Citrullinemia Type Ii
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased body mass ind... ORPHA:247585
Protoporphyria, Erythropoietic, 1
Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia OMIM:177000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Calcinosis ORPHA:90154
Immunodeficiency 109 With Lymphoproliferation
Bronchiectasis, Recurrent sinusitis, Hypertriglyceridemia OMIM:620282
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia OMIM:619013
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hyperlipi... ORPHA:444490
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity... ORPHA:73272
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:540
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Panniculitis, Acne inversa, Cystic acne OMIM:608068
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Slender build, Type II diabetes mellitus, Lipodystrophy, L... ORPHA:902
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Abnormal circula... ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:615558
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Flexion contracture of finger, Erythema nodosum, Elevated circulating C-r... OMIM:256040
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Abnorma... ORPHA:264580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Skin rash, Lipodystrophy, Elevated circulating C-reactive protein c... OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Gout, Increased LDL cholesterol co... ORPHA:412
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:66628
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Elevated cir... OMIM:214900
H Syndrome
Psoriasiform dermatitis, Chronic rhinitis, Hernia, Lipodystrophy, Hypertriglyceridemia, Camptodac... ORPHA:168569
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:179494
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Eczematoid dermatitis, Increased circu... OMIM:619802
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Whipple Disease
Insulin resistance, Uveitis, Infectious encephalitis, Myositis, Hyponatremia, Cachexia, Arthritis... ORPHA:3452
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:203800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Generalized lipodystrophy, Flexion contracture, Panniculitis OMIM:619183
Bloom Syndrome
Insulin resistance, Pneumonia, Otitis media, Skin rash, Adipose tissue loss, Abdominal obesity, R... ORPHA:125
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Failure to thrive, Hypog... ORPHA:369
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Panniculitis, Weight loss ORPHA:33577
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Jaundice, Multiple lipomas, Portal hypertension ORPHA:1414
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Truncal obesity, D... OMIM:616541
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia, Chronic otitis... ORPHA:819
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose intolerance, Lar... ORPHA:552
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Eczematoid der... OMIM:615688
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Elevated circulati... OMIM:610717
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperli... OMIM:615947
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Gaisböck Syndrome
Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperpro... ORPHA:90041
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... ORPHA:209902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Failure to thrive, Hypoglycemia, Xanthelasma,... ORPHA:79259
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul... ORPHA:508
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Panniculitis, Anterior uveitis OMIM:301081
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Pancreatitis, Decreased circulating apolipoprote... OMIM:207750
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Periodontitis, Umbilical hernia, Inguinal hernia, Ventral hern... ORPHA:536532
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Failure to thri... ORPHA:358
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... ORPHA:275761
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Fusariosis
Cellulitis, Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Pe... ORPHA:228119
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Dorsocervical fat ... ORPHA:189427
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Prader-Willi Syndrome
Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Hyperin... OMIM:176270
Immunodeficiency 22
Panniculitis, Chronic oral candidiasis, Failure to thrive, Pericarditis OMIM:615758
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:167
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Aromatase Deficiency
Insulin resistance, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hyperlipidemia ORPHA:91
Xp21 Deletion Syndrome
Recurrent otitis media, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Necrotizing entero... OMIM:619573
Glycerol Kinase Deficiency
Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Small for gestationa... OMIM:307030
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:156
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Multiple joint contractures, Chilblains,... ORPHA:51
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Elevated circulating hepatic transaminase con... ORPHA:98907
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Esophagitis, Fasting hypoglycemia, Small for gestational age ORPHA:96182
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Prolonged ne... OMIM:619418
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Diabetes mellitus OMIM:209900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus ORPHA:369837
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Bardet-Biedl Syndrome
Insulin resistance, Inflammation of the large intestine, Elevated circulating hepatic transaminas... ORPHA:110
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatic failure, Decreased liver function, Abnormal circulating lipid concentration, Decreased HD... ORPHA:77293
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Gout, Hyperli... OMIM:232200
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Coccidioidomycosis
Pneumonia, Atypical scarring of skin, Folliculitis, Morbilliform rash, Osteomyelitis, Skin rash, ... ORPHA:228123
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Cyanosis, Severe failure to thrive, Weight loss,... ORPHA:740
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Recurr... ORPHA:3455
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Inguinal hernia, Otitis media, Perianal abscess, Panniculitis, Patent ductus a... OMIM:612541
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype... ORPHA:565612
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Panniculitis, Eczematoid dermatitis ORPHA:508542
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, H... OMIM:264090
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Steinert Myotonic Dystrophy
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hy... ORPHA:273
Say-Barber-Miller Syndrome
Eczematoid dermatitis, Elbow flexion contracture, Knee flexion contracture, Erythema nodosum, Pan... ORPHA:3132
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hype... OMIM:118450
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita ORPHA:254346
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann... ORPHA:3261
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia ORPHA:79477
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Failure to thrive, ... ORPHA:404454
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Pmm2-Cdg
Insulin resistance, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fai... ORPHA:79318
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Failure to thrive, Hyperlipidemia, Pancreatitis, Small for ges... ORPHA:1830
Alström Syndrome
Insulin resistance, Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulati... ORPHA:64
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Panniculitis, Erysipelas ORPHA:2526
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Gout, Chronic pancreatitis, Hyper... OMIM:232240
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Hyperglycemia, Obesity, Hyperlipidemia, ... ORPHA:293987
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Minimal change glomerulonephritis, Hyperlipidemia ORPHA:567546
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus ORPHA:3464
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia, Arthritis ORPHA:324
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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 Serpina3c

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 Serpina3c.

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) Serpina3ctm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Serpina3ctm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)