Gene Summary

Name:
chemokine (C-X-C motif) ligand 14
Synonyms:
Kec,  1110031L23Rik,  1200006I23Rik,  BRAK,  Scyb14,  MIP-2g

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
decreased circulating serum albumin level Cxcl14em1(IMPC)H HOM Early adult 1.34×10-06
decreased circulating total protein level Cxcl14em1(IMPC)H HOM Early adult 1.47×10-05

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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.

Phenotype associated images not available

Human diseases caused by Cxcl14 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 Cxcl14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Pyknoachondrogenesis
Stillbirth OMIM:265880
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... ORPHA:71529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Mody
Abnormal C-peptide level, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsuli... ORPHA:552
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Failure to thrive, Hyperinsul... OMIM:606528
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Omenn Syndrome
Hypoproteinemia OMIM:603554
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Weight loss, Abnormality of the peritoneum, Neoplasm of the live... ORPHA:2126
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Dengue Fever
Hypoproteinemia ORPHA:99828
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Increased level of gala... ORPHA:79237
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Death in infancy, Hypoglycemia, Lacticaciduria, Elevated ... OMIM:619386
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Acanthocytosis, Hypocholesterolemia, Elevated circulating creatine kinase con... ORPHA:96180
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Small for gestational age, Insulin-resistant diab... OMIM:262190
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased h... ORPHA:263455
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Nephrotic syndrome, Hypergonadot... OMIM:212065
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Decreased liver function, 3-Methylglutaconic aciduria, Thrombocy... ORPHA:67048
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperammonemia, Decreased liver function, Hyperalaninemi... OMIM:615160
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive OMIM:616834
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... OMIM:231100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol co... OMIM:618156
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Hyperammonemia... OMIM:212140
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Potocki-Lupski Syndrome
Small for gestational age, Hypocholesterolemia, Failure to thrive, Hypothyroidism, Oral-pharyngea... OMIM:610883
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive OMIM:266510
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Leishmaniasis
Hypoalbuminemia ORPHA:507
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hypoplasia of penis,... ORPHA:791
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Pierson Syndrome
Hypoproteinemia OMIM:609049
Chylomicron Retention Disease
Acanthocytosis, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, ... ORPHA:71
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran... ORPHA:75563
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated... ORPHA:94086
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hep... OMIM:278000
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Adipose tissue loss, Precociou... OMIM:246200
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... ORPHA:2088
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Organic aciduria, Hyperammonemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Methylmalonic aciduria, Lacticaciduria, Failure to thrive, Neonat... OMIM:245400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Organic aciduria, Increased serum pyruvate OMIM:614741
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Hypoglycemia, Failure to thrive, Elevated hepatic transaminase OMIM:618958
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Increased urine alpha-ketoglut... ORPHA:2394
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to t... ORPHA:289504
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Failure to thrive... OMIM:251880
Alg12-Cdg
Hypospadias, B lymphocytopenia, Hyponatremia, Hypoalbuminemia, Decreased serum insulin-like growt... ORPHA:79324
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Large ... OMIM:616026
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, Inguinal herni... ORPHA:2849
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Insulin resistance, Failure to thrive, Elevated circulating creatine kin... OMIM:613327
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Umbilical hernia, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:608594
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Neonatal death, Micropenis OMIM:618810
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepati... ORPHA:71212
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulatin... OMIM:617049
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyr... OMIM:266150
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Pancreatic And Cerebellar Agenesis
Death in infancy, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia, ... OMIM:609069
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia, Splenomegaly, Hepatic failure, Aminoaciduria ORPHA:664
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Umbilical hernia, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:269700
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal deat... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal deat... OMIM:618839
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... OMIM:256810
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Abnormal erythrocyte enzyme le... ORPHA:264580
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Renal sal... OMIM:614736
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, 3-Methylglutaric aciduria, Glutaric aciduria, Anemia, Hyperammonemia,... OMIM:246450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Hepatic failure, Elevated hepatic transaminas... ORPHA:156
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia, Diabetes insipidus, Failure to thrive, Abnormality of the hypotha... ORPHA:95496
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemi... OMIM:231680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hypoglycemia, Hepatic steatosis, Hyperglycinuri... OMIM:201450
Propionic Acidemia
Hepatomegaly, Neutropenia, Hypoglycemia, Failure to thrive, Anemia, Pancreatitis, Hyperglycinemia... OMIM:606054
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Neutropenia, Hepatocellular carci... OMIM:232220
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Death in infancy, Hypoglycemia, Hyperglutaminemia, Elevated circulating cr... OMIM:619355
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hypoglycemia, Hepatocellular carc... OMIM:276700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hepatic steatosis, Acute hyperammonemia, Ketonuria OMIM:210200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease ORPHA:5
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... ORPHA:37042
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Long penis, Insulin resistance, Insulin... ORPHA:769
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Hyponatremia, Hypoglycemia, Normocytic anemia, Hypercalcem... ORPHA:199299
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:616483
Beta-Ketothiolase Deficiency
Leukocytosis, Hepatomegaly, Thrombocytosis, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammone... ORPHA:134
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Leprechaunism
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Long penis, Insulin resistance, Nephr... ORPHA:508
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia, Decreased circulating c... OMIM:618838
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232200
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... ORPHA:90363
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric a... OMIM:231670
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Dicarboxylic aciduria, Hepatic failure, Elevated ... OMIM:611126
Acute Adrenal Insufficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hypo... ORPHA:95409
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Ne... ORPHA:79259
Addison Disease
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wa... ORPHA:85138
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Dicarboxylic acid... OMIM:212138
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Increased circulating cortisol level, Insuli... OMIM:131100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... ORPHA:348
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Gluco... OMIM:137920
Mirage Syndrome
Hypospadias, Hyponatremia, Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Leukopenia, Anemia,... OMIM:617053
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... ORPHA:230
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hyponatremia, Hyperkalemia, Hypoglycemia, Hyperactive renin-angiotensin syst... ORPHA:90790
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Elevated 7-dehydrocholesterol, Hypocholesterolemia... OMIM:270400
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Tangier Disease
Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia ORPHA:31150
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Failure to thrive, Proxim... OMIM:229600
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Shigellosis
Leukocytosis, Failure to thrive in infancy, Hyponatremia, Splenic abscess, Hypoglycemia, Microang... ORPHA:810
Visceral Steatosis, Congenital
Hypoglycemia, Neonatal death, Hepatic steatosis, Hypocalcemia, Jaundice OMIM:228100
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... ORPHA:226307
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ... ORPHA:3337
Woodhouse-Sakati Syndrome
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... ORPHA:3464
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Leptospirosis
Hyperproteinemia ORPHA:509
Turner Syndrome
Horseshoe kidney, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Horseshoe kidney, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99413
Mosaic Monosomy X
Horseshoe kidney, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99228
Monosomy X
Horseshoe kidney, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hype... ORPHA:99226
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Oral-pharyngeal dysphagi... ORPHA:273
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
Pmm2-Cdg
Multiple joint contractures, Hepatic fibrosis, Nephrotic syndrome, Insulin resistance, Elevated h... ORPHA:79318

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 Cxcl14

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 Cxcl14.

No publications found that use IMPC mice or data for Cxcl14.

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MGI Allele Allele Type Produced
Cxcl14tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cxcl14em1(IMPC)H Exon Deletion Mice

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