Gene Summary

Name:
Fas 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
increased total body fat amount Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.99×10-12
increased circulating alkaline phosphatase level Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 5.99×10-05
abnormal humerus morphology Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 2.54×10-07
decreased lean body mass Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 2.88×10-07
decreased circulating LDL cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 3.87×10-05
decreased circulating HDL cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.40×10-05
increased fasting circulating glucose level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 7.47×10-07
decreased circulating serum albumin level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 6.79×10-06
decreased circulating cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 5.90×10-07
abnormal bone structure Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 8.13×10-06
decreased bone mineral content Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
increased circulating insulin level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 4.09×10-29
increased leukocyte cell number Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 2.88×10-05

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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
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Diarrhea 13
Failure to thrive, Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformity of the femurs, Hyp... OMIM:610539
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Clubbing, Elevated haptoglobin lev... OMIM:620632
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio... OMIM:613752
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Short ... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of... ORPHA:79320
Immunodeficiency 27A
Anemia, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly, Weight lo... OMIM:209950
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Bone cyst, Failure to thri... ORPHA:528
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Immunodeficiency 43
Lung abscess, Hypoplasia of the ulna, B lymphocytopenia, Hypoproteinemia, Decreased circulating b... OMIM:241600
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Loss of facial adipose tissue, Loss of tr... OMIM:608612
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypothyroidism, Arachnodactyly, Hepatosplenomegaly, Hypopituitarism, Hypoal... OMIM:619013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, T... OMIM:616050
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Impaired glucose tolerance, Short distal phalanx of finger, Coxa valga, Hyperinsu... OMIM:248370
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... OMIM:616834
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Osteoporosis, Dorsocervical fat pad, Hyperinsulinemic hypogly... OMIM:616033
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Clubbing, Periostosis OMIM:614441
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Hyperinsulinemia OMIM:618406
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Immunodeficiency 32B
Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Decreased ... OMIM:618347
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia, Hip disloca... OMIM:608776
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight loss, Thro... ORPHA:507
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Hypothyroidism, Failure to thrive, Thrombocytopenia, Decreased circulating... OMIM:608104
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... OMIM:608600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Lymphopenia, Hypoalbuminemia, Hypoglycemia, A... OMIM:617575
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Ce... ORPHA:1667
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... OMIM:616730
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... ORPHA:103910
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Reduced subcutaneous adipose t... ORPHA:363400
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia, Small for gestational age OMIM:256300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hyp... ORPHA:263455
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholest... OMIM:607765
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Alg12-Cdg
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... ORPHA:79324
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra... ORPHA:158061
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hypoalbuminemia OMIM:602579
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Squalene Synthase Deficiency
Slender long bone, Increased circulating farnesol concentration, 2-3 toe syndactyly, Elbow flexio... OMIM:618156
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Clubbing, Hypothyroidism, H... OMIM:226300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Short toe, Type II diabetes mellitus, ... ORPHA:3085
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni... OMIM:617021
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Panniculitis, G... ORPHA:79086
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Reduced C-peptide level OMIM:618856
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentr... OMIM:613327
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased body weight, Elevated circulating creatine kinase concentration, Hy... ORPHA:96180
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogon... OMIM:212065
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Deviation of finger, Primary gonadal insufficiency, Abnormality... ORPHA:1227
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Abetalipoproteinemia
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hy... ORPHA:14
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia OMIM:620195
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... ORPHA:64743
Estrogen Resistance Syndrome
Osteopenia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating horm... ORPHA:785
Mucopolysaccharidosis-Plus Syndrome
Anemia, Clubbing, Flared iliac wing, Metaphyseal widening, Leukopenia, Splenomegaly, Thrombocytop... OMIM:617303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum... OMIM:617093
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Radial deviation ... OMIM:176270
Estrogen Resistance
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired ... OMIM:615363
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Redu... OMIM:608594
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Abnormality of the endocrine system, Hypocal... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated circulating alpha... OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hyp... OMIM:619055
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Umbi... OMIM:269700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anemia, Mitten deformity, Decreased circulating carnitine concentration, Decreas... ORPHA:89842
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Short 5th metacarpal, Spherocytosis ORPHA:66518
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalbuminemia ORPHA:67
Donohue Syndrome
Severe failure to thrive, Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Large hands... OMIM:246200
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Acanthocytosis, Hypocholesterolemia ORPHA:71
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia, Flexion contracture, Hepatosplenomegaly ORPHA:367
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Talipes equinovarus, Hypoplastic iliac wing, Camptodactyly, Corona... OMIM:235510
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperalaninemia OMIM:618329
Aicardi-Goutieres Syndrome 9
Anemia, Osteoporosis, Hypothyroidism, Failure to thrive, Hepatosplenomegaly, Weight loss, Hypoalb... OMIM:619487
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Inguinal hernia, Pancytopenia, Hypocal... OMIM:613658
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Clubbing, Failure to thrive, Hypoalbuminemia OMIM:174900
Alstrom Syndrome
Hypertriglyceridemia, Polydactyly, Decreased response to growth hormone stimulation test, Hyperin... OMIM:203800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum... OMIM:617156
Bacterial Toxic-Shock Syndrome
Fasciitis, Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kin... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Splenomegaly, A... ORPHA:186
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Failure to thrive, Hypoalbuminemia, Hypernatremia OMIM:615508
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Inguinal hernia, Postaxial hand polydactyly, Y-shaped m... OMIM:175700
Xfe Progeroid Syndrome
Cachexia, Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Hy... OMIM:610965
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Rabson-Mendenhall Syndrome
Polydactyly, Increased circulating androgen concentration, Increased serum testosterone level, Fa... ORPHA:769
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Anemia, Clubbing of fingers, Cachexia, Broad phalanx of the toes, Subcu... ORPHA:79076
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Arachnodactyly, Hypoalbuminemia, Hiatus hernia, Hip dislocation OMIM:617729
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Inguinal hernia, Epiphyseal stippling, Stippled calcification proximal hu... OMIM:222765
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Delayed epiphysea... ORPHA:289157
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypergalactosemia, Failure to thrive, Increa... OMIM:222470
Atypical Werner Syndrome
Delayed puberty, Hypertriglyceridemia, Rocker bottom foot, Reduced bone mineral density, Lipoatro... ORPHA:79474
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Anemia, Increased blood urea nit... ORPHA:230
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Anemia, Craniosynostosis, Atrophic scars, Enamel hypoplasia, Failure to thrive, Hypoalb... ORPHA:79396
Wilson Disease
Chondrocalcinosis, Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Anemia,... OMIM:277900
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Galloway-Mowat Syndrome 1
Hiatus hernia, Camptodactyly, Slender finger, Hand clenching, Hypoalbuminemia, Small for gestatio... OMIM:251300
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbu... ORPHA:85443
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Hip subluxation, Proximal placement of thumb, Hammertoe, Epiphyseal... OMIM:270400
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Woodhouse-Sakati Syndrome
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline... ORPHA:3464
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ... OMIM:239000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Bowi... ORPHA:2088
Rhizomelic Chondrodysplasia Punctata, Type 5
Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr... OMIM:616716
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Hypoparathyroidism, Abnormality of iron homeostasis, Ex... ORPHA:231222
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating... ORPHA:508
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Hypokalemia, Neutrophilia in presence of infection... ORPHA:99826
Primary Sclerosing Cholangitis
Osteopenia, Thyroiditis, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbumin... ORPHA:171
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia, H... ORPHA:505248
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia, Hypoglycemia, Red... ORPHA:2126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... ORPHA:2831
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Metatarsus adductus, Failure to thriv... OMIM:244450
Tafro Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Leukocytosis, Throm... ORPHA:457077
Tangier Disease
Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Testicular atrophy... ORPHA:465508
Dubowitz Syndrome
Aplastic anemia, Clinodactyly of the 5th finger, Inguinal hernia, Acute lymphoblastic leukemia, S... OMIM:223370
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Split hand, Postaxial hand polydactyly, Micromelia, Hypothyroidism, Short humerus, Aplasia/Hypopl... ORPHA:2491
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short 4th metacarpal, Genu valgum, Rhizomelia, Knee flexion contracture, Bowed humerus, Metaphyse... OMIM:618019
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... OMIM:609465
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Ulnar bowing, Aplasia/Hypoplasia of the thumb, Short 2n... ORPHA:2878
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short femur, Failure to thrive, S... OMIM:607143
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99413
Turner Syndrome
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99228
Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99226
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Polydactyly, Inguinal hernia, Diabetes insipidus, Hyperbilirubinemia, Anterior pituit... OMIM:619534
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Thrombo... OMIM:620185
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Abnormal subcutaneous... ORPHA:79318
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... OMIM:616507
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c, Clinodactyly of the 4th finger ORPHA:79134
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Short metacarpal, Rhizomelic arm shor... ORPHA:508542
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Atelosteogenesis, Type I
Fibular aplasia, Short finger, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in... OMIM:108720
Liver Disease, Severe Congenital
Anemia, Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hypera... OMIM:619991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Inguinal hernia, Broad distal phalang... OMIM:218330
Autosomal Dominant Omodysplasia
Short humerus, Short 1st metacarpal, Short palm, Rhizomelia ORPHA:93328
Tenorio Syndrome
Osteopenia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Occipital Horn Syndrome
Genu valgum, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:304150
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... ORPHA:959
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ... OMIM:181450
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,... OMIM:600373
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Failure to thrive, Shor... ORPHA:420794
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Melnick-Needles Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes equinovarus, Cone-shaped ep... OMIM:309350
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Sand... OMIM:607323
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bowed humerus, Inguinal h... OMIM:272460
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Methylmalonic acidemia, Short femur, Failure to thrive, Short humerus, Flexion contr... ORPHA:17
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Abnormalit... ORPHA:56305
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Triden... OMIM:619479
Holt-Oram Syndrome
Proximal placement of thumb, Aplasia of the 1st metacarpal, 1-2 finger syndactyly, Short humerus,... OMIM:142900
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Short humerus, Long toe, Decreased response to growth hormone ... ORPHA:3455
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hyperlipidemia, Sple... ORPHA:64
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Absent radius, Hand polydactyly, Short humerus, Proximal placement of thumb OMIM:314390
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Increased serum testosterone level, Talipes equinovarus, Slend... OMIM:264090
Leukocyte Adhesion Deficiency
Perianal abscess, Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Cor... ORPHA:2968
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Maternal diabetes, Inguinal hernia, Hypoplastic acetabulae, Shor... OMIM:134780
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Inguinal hernia, Short metacarpal, Camptodactyly, Ul... OMIM:616145
Baller-Gerold Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Lambdoidal craniosynostosis, Patellar hypoplasi... OMIM:218600
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Maternal diabetes, Short metacarpal, Humeroradial syno... ORPHA:3404
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Anterolateral radial head dislocation... OMIM:258315
Roberts-Sc Phocomelia Syndrome
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... OMIM:268300
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Calcaneal epiphyseal stippling, Elbow flexion contracture, Congen... OMIM:117650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367

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 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A stress-induced cilium-to-PML-NB route drives senescence initiation. Nature communications (April 2023) Fbf1tm1a(EUCOMM)Wtsi PMC10076330
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)