Gene Summary

Fas (TNFRSF6) binding factor 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating 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 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 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
decreased bone mineral content Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
increased leukocyte cell number Fbf1tm1a(EUCOMM)Wtsi HOM   Early adult 2.84×10-05
decreased circulating serum albumin level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 6.79×10-06
abnormal bone structure Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 8.13×10-06
increased fasting circulating glucose level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 7.47×10-07
decreased circulating HDL cholesterol level Fbf1tm1a(EUCOMM)Wtsi HOM Early adult 1.40×10-05

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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.

Anti-nuclear antibody assay


6 Images

DSS Histology


5 Images

Ear epidermis immunophenotyping


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
Matching phenotypes Source
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Decreased fibular diameter, Fasting hyperinsulinemia, Increased ins... OMIM:619489
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... ORPHA:71529
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Osteopenia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Hypersplenism, Hy... OMIM:610539
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Small for gestational age, Large ... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... OMIM:604367
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to thrive, Hypoalbu... OMIM:613752
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... ORPHA:276580
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Failu... ORPHA:79320
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... ORPHA:35878
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Hypoplasia of the femoral head, Thromboc... OMIM:209950
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... ORPHA:171706
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age, Hyperinsulinemic hypo... OMIM:601820
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistanc... OMIM:617885
Immunodeficiency 43
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... OMIM:241600
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... OMIM:619855
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Hyperinsu... OMIM:248370
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... OMIM:608612
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Incre... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Congenital Generalized Lipodystrophy
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Increased C... ORPHA:528
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia, Hypoalbuminemia OMIM:603278
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... OMIM:616050
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... ORPHA:2298
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL choles... OMIM:616834
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:66628
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia OMIM:614441
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia, Hypertriglyceridemia, Hypothyroidism, Ara... OMIM:619013
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypogly... OMIM:232700
Galactokinase Deficiency
Hepatosplenomegaly, Small for gestational age, Hypergalactosemia, Increased level of galactitol i... ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyper... OMIM:616033
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hyperinsulinemi... OMIM:151660
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Elevated circulating growth hormone concentration, Multiple pancreatic bet... ORPHA:79644
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Failure to thrive, Thrombocytopenia, Monocytopeni... OMIM:226990
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Os... ORPHA:398063
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia, Obesity OMIM:608320
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Analbuminemia
Hypoproteinemia, Small for gestational age, Lipodystrophy, Obesity, Hyperlipidemia, Increased alp... ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... OMIM:267700
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased... OMIM:618347
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... ORPHA:507
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... OMIM:308240
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Hyperglycemia, ... OMIM:608600
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overweight, Glycosuria, Diabet... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Increased body weight, Pancreatic islet-cell hyperplasia, Reactive hypoglyc... ORPHA:276608
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Eosinophilia, Elevated circulating C-reactive protein concentr... ORPHA:2070
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Nephrotic Syndrome, Type 14
Hypogonadism, Lymphopenia, Hypertriglyceridemia, Adrenal insufficiency, Hypothyroidism, Hypoglyce... OMIM:617575
Nephrotic Syndrome, Type 11
Partial duplication of thumb phalanx, Clinodactyly, Arachnodactyly, Hypercholesterolemia, Hypoalb... OMIM:616730
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... OMIM:266510
Wolcott-Rallison Syndrome
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Neutropenia... ORPHA:1667
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hypertriglyce... ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Anemia, Decreased circulating T4 concentration, Failure to thrive, Thrombocytopeni... OMIM:608104
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... OMIM:147630
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... ORPHA:158061
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... OMIM:618156
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Sple... OMIM:607765
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... OMIM:618858
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Splenomegaly, Hy... OMIM:612526
Camptodactyly, Abnormal adipose tissue morphology, Overlapping fingers, Proximal placement of thu... ORPHA:79324
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Truncal obesity, Nonketotic hy... ORPHA:293964
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... OMIM:603553
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Brachydactyly, Short toe, Type II diabetes mell... ORPHA:3085
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Clubbing, Anemia, Hypothyroidism, Clubbing of fingers, Thrombocytosis, Iron defi... OMIM:226300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy... OMIM:262190
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... OMIM:606176
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... OMIM:240900
Citrullinemia Type Ii
Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Elevated plasma citrulline, Hyp... ORPHA:247585
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... OMIM:617021
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hyperinsulinemia, Hypertrigl... ORPHA:79086
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Diabetes insipidus, Abe... ORPHA:96180
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... ORPHA:97279
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Obesity ORPHA:791
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hypothyroidism, Umbilical hernia, Failure to thrive... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Osteoporosis, Elevated circulating creatine kinase concentration, Hyperinsulinemia... OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Steatorrhea, Osteopenia, Failure to thrive, Abnormal subcutaneous fat tissue dist... OMIM:212065
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... ORPHA:292
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Hyperinsulinemia, Delayed epiphyseal ossification, Glucose intolerance,... ORPHA:785
Bangstad Syndrome
Deviation of finger, Increased circulating cortisol level, Primary gonadal insufficiency, Abnorma... ORPHA:1227
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... ORPHA:71212
Hypoalbuminemia ORPHA:79327
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... OMIM:618963
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Leukopenia, Anemia, Metaphyseal widening, Neutropenia, Flared iliac wing, Thrombocytope... OMIM:617303
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Failure to thrive, Increased serum bile acid concentr... OMIM:242150
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Increased s... OMIM:615363
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Fa... ORPHA:14
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... ORPHA:540
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Decr... OMIM:617093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hyperbilirubinemia, Thro... OMIM:251880
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia ORPHA:71
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentrat... OMIM:619055
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Bdv Syndrome
Delayed puberty, Decreased serum testosterone concentration, Reduced TSH response to thyrotrophin... OMIM:619326
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... ORPHA:454836
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short 5th metacarpal, Hyperinsulinemia, Splenomegaly ORPHA:66518
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Liver abscess, Anemia, Weight loss, Hypoalbuminemia ORPHA:67
Alstrom Syndrome
Hyperostosis frontalis interna, Hyperuricemia, Multinodular goiter, Truncal obesity, Diabetes ins... OMIM:203800
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Epiphyseal stippling, Failure to thrive OMIM:600121
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Diabetes mellitus, Umbilical hernia, Hyperinsulinemia, Cystic angiomatosis of bone... OMIM:608594
Perlman Syndrome
Femoral hernia, Inguinal hernia, Hyperinsulinemia ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Umbilical hernia, Hyperinsulinemia, Cystic angiomatosis of bone, Hypertriglyceride... OMIM:269700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Flexion contracture, Failure to thrive, Hypoalbuminemia ORPHA:367
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Glycogen Storage Disease Ixa1
Hyperuricemia, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hemolytic anemia, Anemia, Osteoporosis, Failure to thrive, Hypothyroidism, We... OMIM:619487
Donohue Syndrome
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic islet-cell hype... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hypoalbuminemia OMIM:618329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Coronal craniosynostosis, Umbilical hernia, Thyroid lymphangiectasia, Joint contra... OMIM:235510
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Decreased serum zinc, Anemia, Abnormal circulating selenium concentration, Failu... ORPHA:89842
Juvenile Polyposis Syndrome
Clubbing, Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... ORPHA:36234
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Wilson Disease
Chondrocalcinosis, Glycosuria, Hemolytic anemia, Hypouricemia, Anemia, Osteoporosis, Hypoparathyr... OMIM:277900
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Osteoporosis, Decreased circulating ACTH level, Hyperglycem... OMIM:615954
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Small for gestational age, Reduced bone mineral density, Slender build, Inguinal hernia,... OMIM:613658
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Failure to thrive, Hyperbili... OMIM:617156
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Inguin... OMIM:175700
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypoplasia, Failure to thrive, Hy... OMIM:610965
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... OMIM:200700
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... ORPHA:75508
Hepatocellular Carcinoma
Polycythemia, Liver abscess, Anemia, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopen... ORPHA:88673
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Polydactyly... ORPHA:769
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Hypernatremia, Failure to thrive, Hypoalbuminemia OMIM:615508
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Juvenile Polyposis Of Infancy
Broad phalanx of the toes, Anemia, Refractory anemia, Cachexia, Clubbing of fingers, Broad thumb,... ORPHA:79076
Galloway-Mowat Syndrome 3
Camptodactyly, Hip dislocation, Hiatus hernia, Failure to thrive, Arachnodactyly, Hypoalbuminemia OMIM:617729
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Osteoporosis, Conjuga... ORPHA:186
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnese... OMIM:618183
Prader-Willi Syndrome
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Osteoporosis, Osteopenia, Short palm, Short foo... OMIM:176270
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity, Hypertriglyceridemia... OMIM:615812
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Anemia, Enamel hypoplasia, Failure to thrive, Scarring, Atrophic scars, Hypoalb... ORPHA:79396
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Atypical Werner Syndrome
Delayed puberty, Hip dysplasia, Generalized lipodystrophy, Diabetes mellitus, Fasting hyperinsuli... ORPHA:79474
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... OMIM:222765
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia OMIM:222100
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Hypoglycemia, Elevat... ORPHA:230
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... ORPHA:232
Trichohepatoenteric Syndrome 1
Small for gestational age, Avascular necrosis of the capital femoral epiphysis, Hypermethioninemi... OMIM:222470
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Abnormali... ORPHA:2019
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Howell-Jolly bodies, Weig... ORPHA:85443
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Galloway-Mowat Syndrome 1
Camptodactyly, Small for gestational age, Hiatus hernia, Slender finger, Joint contracture of the... OMIM:251300
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Osteoporosis, Histiocytosis, Osteopenia, Weight loss, Type I diabetes mellitu... ORPHA:171
Woodhouse-Sakati Syndrome
Delayed puberty, Hypogonadism, Decreased response to growth hormone stimulation test, Osteopenia,... ORPHA:3464
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Hip dislocation, Short thumb, Proximal placement of thumb, Overlappin... OMIM:270400
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Hyp... ORPHA:231222
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly OMIM:601438
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Rickets, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes... ORPHA:2088
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Increased bone mineral density, Hyperuricemia, Lateral femoral bowing, Hydroxyprol... OMIM:239000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hernia, Flexion contracture, Hypoalbumi... ORPHA:505248
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hyperammonemia, Reticulocytosis, Leukopenia, Abnormal lymp... ORPHA:99826
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia, Reduced C-peptide level, Hypog... ORPHA:2126
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... OMIM:619598
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... ORPHA:508
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Metaphyseal cupping, Irregular capital femoral epiphysis, Short femoral neck, Meta... OMIM:616716
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Abnormal metacarpophalangeal joint morphology, Decreased serum t... ORPHA:465508
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Failure to thrive, Metatarsus adductus, Hypocholesterolemia, Clinodac... OMIM:244450
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... OMIM:171480
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Osteomalacia, T lymphocytopenia, Decreased proportion ... OMIM:619381
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Dubowitz Syndrome
Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Syndactyly, Hypocholesterolemia, ... OMIM:223370
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obesity, Syndact... OMIM:615986
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Panniculitis, Elevated circulating C-r... OMIM:617099
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Short metacarpal, Deformed humeral heads, Brachydactyly, Genu... ORPHA:2831
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... ORPHA:99413
Turner Syndrome
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... ORPHA:99228
Monosomy X
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... ORPHA:99226
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... OMIM:186500
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Aplasia/Hypoplasia of... ORPHA:2878
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Postaxial hand polydactyly, Hypothyroidism, Aplasia/Hypoplasia of the ulna, Split ... ORPHA:2491
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, Hip dislocation, Dislocated radial head, Hypoplastic scapulae, Flared metaphysis, ... OMIM:602471
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... ORPHA:453533
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Leukocytosis, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... OMIM:300908
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Camptodactyly, Hyposegmentation of neutrophil nuclei, Metaphyseal cupping, Knee flexion contractu... OMIM:618019
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Hyperglycemia, Thrombocytopenia, Abnormal glucose homeos... ORPHA:391673
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Inguinal hernia, Polydactyly, Postaxial polydactyly, Anterior pituitary h... OMIM:619534
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Short tibia, Failure to thrive, Short femur, Hypocalcem... OMIM:607143
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Wrist flexion contracture, Osteopenia, Failure to thrive, Bowed ... OMIM:609465
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Absent radius, Absent thumb, Phocomelia, Abnormal carpal morp... OMIM:142900
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short tibia, Hypopla... OMIM:620076
Atelis Syndrome 2
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... OMIM:620185
Lipodystrophy, Elevated circulating growth hormone concentration, Reduced thyroxin-binding globul... ORPHA:79318
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Ulnar bowing, Sho... OMIM:211350
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... OMIM:616507
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia, Clinodactyly of the 4th finger ORPHA:79134
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Short clavicles, Bowed humerus, Congenital diaphragmatic hernia, Hypoplasti... OMIM:618022
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... ORPHA:273
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Liver Disease, Severe Congenital
Hypoproteinemia, Inguinal hernia, Hyperammonemia, Leukopenia, Abnormal circulating thyroid hormon... OMIM:619991
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Leukopenia, Anemia, Neutropenia, Short metacarpal, Reticulocytopenia, Lymphopenia,... ORPHA:508542
Atelosteogenesis, Type I
Short finger, Short humerus, Club-shaped proximal femur, Clubbing, Short metatarsal, Short metaca... OMIM:108720
Occipital Horn Syndrome
Short humerus, Hiatus hernia, Osteoporosis, Decreased circulating copper concentration, Pelvic bo... OMIM:304150
Cranioectodermal Dysplasia 1
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Inguinal he... OMIM:218330
Tenorio Syndrome
Osteopenia, Hypoinsulinemia, Hypoglycemia OMIM:616260
Omodysplasia 2
Short humerus, Dislocated radial head, Broad femoral neck, Fibular hypoplasia, Hypoplastic distal... OMIM:164745
Ulnar-Mammary Syndrome
Delayed puberty, Inguinal hernia, Short 5th finger, Hypoplasia of the radius, Anterior pituitary ... OMIM:181450
Acro-Renal-Ocular Syndrome
Short humerus, Radial club hand, Short thumb, Finger syndactyly, Short distal phalanx of the thum... ORPHA:959
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed humerus, Bifid first metacarpal... OMIM:210710
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Codas Syndrome
Short humerus, Congenital hip dislocation, Proximal placement of thumb, Delayed ossification of c... OMIM:600373
Pancreatic And Cerebellar Agenesis
Anemia, Diabetes mellitus, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipose tissue,... OMIM:609069
Cono-Spondylar Dysplasia
Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th... ORPHA:420794
Autosomal Dominant Omodysplasia
Short humerus, Short 1st metacarpal, Short palm ORPHA:93328
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Melnick-Needles Syndrome
Short humerus, Short distal phalanx of finger, Hip dislocation, Coxa valga, Hypoplastic scapulae,... OMIM:309350
Duane-Radial Ray Syndrome
Short humerus, Absent radius, Short thumb, Preaxial polydactyly, Absent thumb, Aplasia of metacar... OMIM:607323
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Inguinal hernia, Capitate-hamate fusion, Short metacarpal, Enamel hypoplasi... OMIM:272460
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Polydactyly, Methylmalonic acidemia, Failure to thrive, Short femur, Flexion contr... ORPHA:17
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Small pituitary gland, Short long bone, Bowed humerus, Flexion con... OMIM:619479
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Hy... ORPHA:3455
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hand polydactyly, Absent radius, Proximal placement of thumb OMIM:314390
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Abnormality... ORPHA:2968
Alström Syndrome
Truncal obesity, Hyperinsulinemia, Puberty and gonadal disorders, Elevated circulating thyroid-st... ORPHA:64
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Short tubular bones of t... ORPHA:56305
Femoral-Facial Syndrome
Short humerus, Short fifth metatarsal, Maternal diabetes, Inguinal hernia, Short fourth metatarsa... OMIM:134780
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Short humerus, Small for gestational age, Hypoplastic ilia, Increased s... OMIM:264090
Catel-Manzke Syndrome
Short humerus, Camptodactyly, Inguinal hernia, Umbilical hernia, Short metacarpal, Short femur, H... OMIM:616145
Baller-Gerold Syndrome
Craniosynostosis, Forearm undergrowth, Oligodactyly, Patellar aplasia, Short humerus, Absent radi... OMIM:218600
Roberts-Sc Phocomelia Syndrome
Aplasia of the ulna, Short humerus, Craniosynostosis, Absent radius, Phocomelia, Wrist flexion co... OMIM:268300
Ulbright-Hodes Syndrome
Short humerus, Maternal diabetes, Abnormal forearm bone morphology, Phocomelia, Hypoplasia of the... ORPHA:3404
Omodysplasia 1
Short humerus, Anterolateral radial head dislocation, Umbilical hernia, Short tibia, Hypoplastic ... OMIM:258315
Cerebrocostomandibular Syndrome
Short humerus, Congenital hip dislocation, Elbow flexion contracture, Calcaneal epiphyseal stippl... OMIM:117650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367


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)