banner
Genes Phenotypes Help, News, Blog

Gene: Ccdc18 MGI:1922974

Log in to follow

Gene Summary

Name:
coiled-coil domain containing 18
Synonyms:
1700021E15Rik,  4932411G06Rik

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
increased circulating total protein level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 6.78×10-05
increased circulating free fatty acids level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 1.85×10-09
increased circulating alkaline phosphatase level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 6.87×10-05
increased circulating triglyceride level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 2.08×10-05
increased circulating sodium level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 1.64×10-08
increased circulating glycerol level Ccdc18tm1a(EUCOMM)Wtsi HOM Early adult 3.10×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Download thumbnail Download
DSS Histology

Images

7 Images

View images
Eye Morphology

Images Ophthalmoscopy

1 Images

View images
FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 86 images

Ccdc18tm1a(EUCOMM)Wtsi
increased hippocampal commissure size, hippocampal commissure, HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 9 images

Ccdc18tm1a(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, upturned snout, malocclusion, head, HOM, Female, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
malocclusion, abnormal snout morphology, asymmetric snout, upturned snout, head, HOM, Female, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
malocclusion, abnormal snout morphology, asymmetric snout, upturned snout, head, HOM, Female, WTSI
Ccdc18tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Ccdc18 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 Ccdc18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... OMIM:610600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556037
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556030
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... OMIM:615751
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:199296
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... ORPHA:71212
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia OMIM:614736
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia OMIM:214700
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... ORPHA:3008
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level OMIM:610768
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:613090
Dengue Fever
Hypoproteinemia ORPHA:99828
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea ORPHA:71
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Leptospirosis
Hyperproteinemia ORPHA:509
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Snakebite Envenomation
Hyponatremia ORPHA:449285
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
Hartsfield Syndrome
Hypernatremia OMIM:615465
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Omenn Syndrome
Hypoproteinemia OMIM:603554
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90790
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Alg8-Cdg
Hyponatremia ORPHA:79325
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:361
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia ORPHA:167
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Infant Botulism
Hyponatremia ORPHA:178478
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Bartter Syndrome Type 4
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... ORPHA:89938
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:444490
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:602522
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79473
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Legionnaires Disease
Hyponatremia ORPHA:549
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Pituitary Apoplexy
Increased circulating cortisol level, Hyponatremia ORPHA:95613
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Whipple Disease
Hyponatremia ORPHA:3452
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:168558
Addison Disease
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:617913
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:293978
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste... ORPHA:470
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Shigellosis
Abnormal blood ion concentration, Hyponatremia ORPHA:810
Familial Dysautonomia
Hyponatremia ORPHA:1764
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Japanese Encephalitis
Hyponatremia ORPHA:79139
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... OMIM:219800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
H Syndrome
Hypertriglyceridemia ORPHA:168569
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:157
Pierson Syndrome
Hypoproteinemia OMIM:609049
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Hyperlipidemia, Hyponatremia ORPHA:293987
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Hyperlipidemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Holoprosencephaly
Hyponatremia ORPHA:2162
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Decreased HDL ... ORPHA:77293
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90794
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:269700
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189427
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... OMIM:201750
X-Linked Lymphoproliferative Disease
Hypertriglyceridemia, Increased circulating ferritin concentration ORPHA:2442
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Glycogen Storage Disease Ia
Hyperuricemia, Hyperlipidemia, Xanthelasma OMIM:232200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189439
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Glycogen Storage Disease Ib
Hyperuricemia, Hyperlipidemia, Xanthelasma OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
Glycogen Storage Disease Ic
Hyperuricemia, Hyperlipidemia, Xanthelasma OMIM:232240
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia ORPHA:64

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 Ccdc18

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 Ccdc18.

There are 5 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) Ccdc18tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Ccdc18tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ccdc18tm1a(EUCOMM)Wtsi