Gene Summary

Name:
Fas (TNFRSF6) binding factor 1
Synonyms:
1110033G01Rik

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 bone mineral content Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
decreased circulating serum albumin level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 6.79×10-06
abnormal humerus morphology Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 2.54×10-07
increased fasting circulating glucose level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 7.47×10-07
decreased circulating cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 5.90×10-07
decreased circulating LDL cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 3.87×10-05
decreased lean body mass Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 2.88×10-07
increased leukocyte cell number Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 2.88×10-05
decreased circulating HDL cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.40×10-05
increased circulating alkaline phosphatase level Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 5.99×10-05
abnormal bone structure Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 8.13×10-06
increased total body fat amount Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 2.09×10-12
increased circulating insulin level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 4.09×10-29

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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.

DSS Histology

Images

5 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 85 images

Human diseases caused by Fbf1 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 Fbf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Osteopenia, Hypocholesterolemia, Hypersplenism, Anemia, Thrombocytopenia, Erlenmeye... OMIM:610539
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276580
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:617156
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mandibuloacral Dysplasia
Glucose intolerance, Short clavicles, Hyperinsulinemia, Increased adipose tissue around the neck,... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Alg6-Cdg
Failure to thrive, Shortening of all distal phalanges of the fingers, Brachydactyly, Decreased LD... ORPHA:79320
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Increased C-peptid... ORPHA:528
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide l... ORPHA:276556
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss... OMIM:608612
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis, Clubbing OMIM:614441
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypo... OMIM:619013
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertriglyceridemia, Hypoglycemia, Hypoalbum... OMIM:617575
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed puberty, Delayed thelarche, Dorsocervical fa... OMIM:616033
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Decreased body weight, Decreased response to growth hormone stimu... OMIM:618347
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... ORPHA:2070
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... ORPHA:552
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Hypercholest... OMIM:616730
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... ORPHA:103910
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, ... ORPHA:1667
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Squalene Synthase Deficiency
2-3 toe syndactyly, Slender long bone, Increased circulating farnesol concentration, Hypocholeste... OMIM:618156
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia OMIM:256300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158061
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Camptodactyly, Hypothyroidism, Elevated circulating creat... OMIM:608104
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Estrogen Resistance
Glucose intolerance, Osteopenia, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Alg12-Cdg
Failure to thrive, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossificatio... ORPHA:79324
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Rickets OMIM:607765
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Brachydac... ORPHA:3085
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... OMIM:603553
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... ORPHA:247585
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Unicameral... ORPHA:79086
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, ... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Splenomegaly, Osteopenia, Elevated circ... OMIM:613327
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Dev... ORPHA:1227
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Splenomegaly, Flexion contracture, Metaphyseal widening, Leukopenia, Hypoalbum... OMIM:617303
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Talipes equinovarus, Hyperb... ORPHA:14
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Absence of pubertal devel... ORPHA:785
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Spl... OMIM:608594
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... OMIM:619055
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Abnormality of the endocrine system, Neutropenia in presence of ant... ORPHA:37042
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Large... OMIM:246200
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Joint contracture of the hand, Small hand, Coronal craniosynostosis, Camptod... OMIM:235510
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatosplenomegaly, Osteoporosis, Hypothyroidism, Hemolytic anemia, Weight los... OMIM:619487
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... ORPHA:89842
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia, Anemia, Clubbing OMIM:174900
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Abscess, Elevated circulating cr... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:618329
Wilson Disease
Hypoparathyroidism, Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly,... OMIM:277900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Osteoporosis, Mac... OMIM:615954
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... ORPHA:75508
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Broad hal... OMIM:175700
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Cachexia, Enamel hypoplasia, Absence of subcutaneous fat, Hy... OMIM:610965
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Reduced bone mineral density, Sm... OMIM:613658
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Galloway-Mowat Syndrome 3
Failure to thrive, Hiatus hernia, Arachnodactyly, Camptodactyly, Hypoalbuminemia, Hip dislocation OMIM:617729
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Abnormal circulating lipid concentration, Osteoporosis, Conjuga... ORPHA:186
Juvenile Polyposis Of Infancy
Cachexia, Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Subcutaneous lipoma, Refractory... ORPHA:79076
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Aplasia/... ORPHA:2019
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Craniosynostosis, Enamel hypoplasia, Hypoalbuminemia, Atrophic scars, Scarring... ORPHA:79396
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Prader-Willi Syndrome
Hyperinsulinemia, Osteopenia, Genu valgum, Failure to thrive in infancy, Adrenal insufficiency, A... OMIM:176270
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Atypical Werner Syndrome
Hyperinsulinemia, Finger clinodactyly, Glycosuria, Osteolytic defects of the phalanges of the han... ORPHA:79474
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... OMIM:601438
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Trichohepatoenteric Syndrome 1
Failure to thrive, Splenomegaly, Small for gestational age, Avascular necrosis of the capital fem... OMIM:222470
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia, Anemia, Howell-Jolly... ORPHA:85443
Galloway-Mowat Syndrome 1
Talipes equinovarus, Slender finger, Hiatus hernia, Joint contracture of the hand, Small for gest... OMIM:251300
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Smith-Lemli-Opitz Syndrome
Overlapping toe, Elevated 7-dehydrocholesterol, 2-3 toe cutaneous syndactyly, Short toe, 2-3 toe ... OMIM:270400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Osteopenia, Glycosuria, Impaired... ORPHA:2088
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Hyperlipidemia, Decreased response ... ORPHA:3464
Rhizomelic Chondrodysplasia Punctata, Type 2
Failure to thrive, Flexion contracture, Osteopenia, Short humerus, Rhizomelia, Stippled calcifica... OMIM:222765
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Hepatosplenomegaly, Hernia, Hypoalbuminemia, Anemia, Thrombocyto... ORPHA:505248
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... ORPHA:508
Primary Sclerosing Cholangitis
Splenomegaly, Osteopenia, Hepatosplenomegaly, Osteoporosis, Type I diabetes mellitus, Hypoalbumin... ORPHA:171
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Increased bone mineral density, Hydroxyprolinemia, Osteopenia, Short humerus, ... OMIM:239000
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def... OMIM:616716
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Anemia of inadequate production, Decreased mean corpus... ORPHA:231222
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Decreased serum testosterone co... ORPHA:465508
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Deviation of finger, Genu valgum... ORPHA:2831
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypocholesterolemi... OMIM:244450
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Truncal obesity, Postaxial hand po... OMIM:615986
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Dubowitz Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Syndactyly, Aplastic anemia, Hypocholesterolemia... OMIM:223370
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Lipodystrophy,... OMIM:617099
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Postaxial hand polydactyly, Hypothyroi... ORPHA:2491
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99228
Monosomy X
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... ORPHA:99226
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus ORPHA:676
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... OMIM:186500
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Sho... ORPHA:2878
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Flexion contracture, Short humerus, Delayed ossifica... OMIM:602471
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal irregularity, Metaphyseal dysplasia, Metaphyseal cupping, Radial bowing, Femoral bowi... OMIM:618019
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Clin... OMIM:269880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Broad first metatarsal, Hyperbil... OMIM:619534
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short femur, Hypoplasia of the radius, Shor... OMIM:607143
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Abnormal glucose homeostasis,... ORPHA:391673
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Al-Gazali Syndrome
Failure to thrive, Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Osteopenia, Br... OMIM:609465
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Hypoplast... OMIM:164745
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Overlapping fingers, Hypoglycemia, Diabet... OMIM:609069
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Weight loss, Hyperglyc... ORPHA:134
Dend Syndrome
Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia ORPHA:79134
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Talipes equinovarus, Decreas... ORPHA:273
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Rhizomelic arm shortening, B lymphocytopen... ORPHA:508542
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Bilateral talipes equinovarus, Hy... OMIM:618022
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarp... OMIM:108720
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... OMIM:619991
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hypocalcemia, Inguinal hernia, Short humerus, Brachyda... OMIM:218330
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia of the 3... OMIM:181450
Autosomal Dominant Omodysplasia
Short 1st metacarpal, Rhizomelia, Short humerus, Short palm ORPHA:93328
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Tropical Endomyocardial Fibrosis
Cachexia, Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Ly... ORPHA:96253
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short humerus, Short femoral neck, Rhizomelia, Prominent deltoid tuberosities, A... OMIM:610319
Tenorio Syndrome
Hypoglycemia, Osteopenia, Hypoinsulinemia OMIM:616260
Codas Syndrome
Metaphyseal dysplasia, Delayed ossification of carpal bones, Congenital hip dislocation, Short hu... OMIM:600373
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Absent knee epiphyses, Hip contracture, Failure to thrive, Flexion contracture, Short femur, Femo... OMIM:210710
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Failure to thrive, Shor... ORPHA:420794
Melnick-Needles Syndrome
Short distal phalanx of finger, Failure to thrive, Cone-shaped epiphyses of the phalanges of the ... OMIM:309350
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Shoulder dislocation... OMIM:607323
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Distal tapering femur, Short tibia, Abnormality of the humer... ORPHA:56305
Mitchell-Riley Syndrome
Hyperbilirubinemia, Hyperglycemia OMIM:615710
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cox... OMIM:272460
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Coronal craniosynostosis, Impaired neu... ORPHA:2968
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short long bone, Small pituitary gland, Flexion contracture, Short humerus, Brachydactyly, Bowed ... OMIM:619479
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Flexion contracture, Short femur, Short humerus, Polydactyly, Hypoglycemia, Me... ORPHA:17
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Osteopenia, Increased circulating prolactin concentration, S... ORPHA:3455
Alström Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Dorsocervical fat pad, Puberty and gonadal diso... ORPHA:64
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the radius, Coronal craniosynostosis, Carpal bone aplasia, Short... OMIM:218600
Femoral-Facial Syndrome
Short fifth metatarsal, Hypoplastic acetabulae, Talipes equinovarus, Inguinal hernia, Short fourt... OMIM:134780
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Failure to thrive, Talip... OMIM:264090
Occipital Horn Syndrome
Short clavicles, Coxa valga, Hiatus hernia, Short humerus, Osteoporosis, Genu valgum, Pelvic bone... OMIM:304150
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Hypoplasia ... ORPHA:3404
Omodysplasia 1
Increased fibular diameter, Short tibia, Short humerus, Rhizomelia, Fibular hypoplasia, Umbilical... OMIM:258315
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Congenital hip dislocation, Short... OMIM:117650

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 Fbf1

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 Fbf1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue. Cell reports (August 2021) Fbf1tm1(KOMP)Vlcg PMC8428195
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fbf1tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Fbf1tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)