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Gene: Foxo1 MGI:1890077

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Gene Summary

Name:
forkhead box O1
Synonyms:
Fkhr1,  FKHR,  Foxo1a,  Afxh

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Foxo1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Foxo1tm1b(EUCOMM)Wtsi HET Early adult 5.11×10-05
embryonic lethality prior to tooth bud stage Foxo1tm1b(EUCOMM)Wtsi HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote Ambiguous
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

45 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Embryo LacZ

LacZ images wholemount

4 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Foxo1 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.

The table below shows human diseases associated to Foxo1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220

The table below shows human diseases predicted to be associated to Foxo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterol... ORPHA:181393
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Lipodystrophy, Adipose tissue lo... ORPHA:528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Decreased response to growth hormone sti... ORPHA:71526
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergon... ORPHA:79237
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Abnormality ... ORPHA:1041
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... ORPHA:71212
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial hyp... ORPHA:2089
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty OMIM:616834
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Lipodystrop... OMIM:613327
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Edema, Abnormal cardiac septum morphology, Short neck OMIM:608776
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... ORPHA:1131
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic failure, Hypoal... OMIM:602579
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Placental Insufficiency
Hypoxemia, Insulin resistance ORPHA:439167
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... OMIM:608594
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... ORPHA:90301
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypothyr... ORPHA:79319
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Short stature, Edema, Coa... ORPHA:363705
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Growth delay, Ascites, Pulmonic stenosis, Pleural effusion, Hydrops fetalis ORPHA:2414
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... OMIM:269700
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Webbed neck, Edema, Cystic hygroma OMIM:617822
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Obesity
Decreased resting energy expenditure OMIM:601665
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Cardiomegaly... OMIM:115197
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism OMIM:610883
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ventricular septal defect, Pericardial effusion, Delayed erupt... OMIM:235510
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Hepatic steatosis, Hypergonadotrop... ORPHA:91
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Morm Syndrome
Hyperactivity ORPHA:75858
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance ORPHA:90153
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... ORPHA:555874
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Abnormal subcutaneous fat t... OMIM:212065
Woodhouse-Sakati Syndrome
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... ORPHA:3464
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Pleural effusion ORPHA:36412
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Redu... ORPHA:508
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Short Syndrome
Lipodystrophy, Diabetes mellitus, Insulin resistance ORPHA:3163
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Histidinemia
Hyperactivity ORPHA:2157
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Recurrent hypogl... ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Webbe... ORPHA:536532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Intrauterine ... ORPHA:453499
Aicardi-Goutieres Syndrome 9
Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema, Left ventric... OMIM:619487
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Primary Intestinal Lymphangiectasia
Pericardial effusion, Growth delay, Ascites, Edema, Pleural effusion, Generalized edema ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Whipple Disease
Hepatomegaly, Hyponatremia, Insulin resistance, Splenomegaly, Hypothyroidism ORPHA:3452
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hypocholesterolemia, Dec... ORPHA:14
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Gaucher Disease Type 1
Growth delay, Pericardial effusion, Ascites, Abnormal myocardium morphology, Delayed puberty, Ped... ORPHA:77259
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Torticollis, Abnor... ORPHA:79328
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:93552
Myhre Syndrome
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Short stature, ... OMIM:139210
Silver-Russell Syndrome
Recurrent hypoglycemia, Premature adrenarche, Precocious puberty, Insulin resistance ORPHA:813
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Diabetes mellitus, Hypothyroidism, Insulin resistance OMIM:616541
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... ORPHA:681
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Hyp... ORPHA:358
Kaposiform Lymphangiomatosis
Abnormality of the neck, Pleural effusion, Pericardial effusion ORPHA:464329
Bor Syndrome
Branchial cyst ORPHA:107
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Insulin resistance, Hypogonadism, Nephrogenic diabetes insipidus, Diabetes mell... OMIM:209900
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... ORPHA:261330
Short Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Lipodystrophy, Lipoatrophy OMIM:269880
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hypertension, Postprandial... ORPHA:440713
Werner Syndrome
Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Hypogonadism, Li... ORPHA:902
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Craniofacial Microsomia
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Branchial anomaly, Tet... OMIM:164210
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Short stature, Patent ductus arteriosus, Postnatal growth ret... ORPHA:1272
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... ORPHA:26793
Poems Syndrome
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:2905
Gaucher Disease Type 3
Growth delay, Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, ... ORPHA:77261
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Diabetes... OMIM:609069
Atypical Werner Syndrome
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... ORPHA:79474
Hennekam Syndrome
Lymphedema, Mild postnatal growth retardation, Pericardial effusion, Ascites, Delayed eruption of... ORPHA:2136
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Reduc... ORPHA:2126
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Abnormal myocardium morphology, Pericardial effusion ORPHA:300751
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion OMIM:618183
Gand Syndrome
Hyperactivity OMIM:615074
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pleural effusion, Pericardial effusion ORPHA:199241
Holoprosencephaly
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Branchial... ORPHA:2162
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, P... ORPHA:781
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Hypocholesterolemia, Reduced circulating transferrin concentration, C... ORPHA:90363
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Delayed puberty,... OMIM:176270
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Macroglossia, Tricuspid valve prolapse... ORPHA:261337
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis, Peritonitis ORPHA:391673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... ORPHA:352665
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Decreased response to growth horm... ORPHA:96182
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemi... ORPHA:293987
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Turner Syndrome Due To Structural X Chromosome Anomalies
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99413
Turner Syndrome
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:881
Mosaic Monosomy X
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99228
Monosomy X
Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Glucose intolerance, High urinary go... ORPHA:99226
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia ORPHA:134
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Chédiak-Higashi Syndrome
Edema, Pleural effusion, Pericardial effusion ORPHA:167
Bloom Syndrome
Adipose tissue loss, Diabetes mellitus, Insulin resistance ORPHA:125
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... ORPHA:3008
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Generalized Arterial Calcification Of Infancy
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... ORPHA:51608
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Fragile X Syndrome
Hyperactivity OMIM:300624
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Precocious puberty, Cholestatic liver disease OMIM:270400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Homozygous Familial Hypercholesterolemia
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Sudden cardiac death, Mitral... ORPHA:391665
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion ORPHA:73224
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Crimean-Congo Hemorrhagic Fever
Myocarditis, Stiff neck, Pericardial effusion, Ascites ORPHA:99827
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Ascites, Lymphedema ORPHA:538
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Cyanosis, Decreased serum leptin, Pubertal devel... ORPHA:740
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... ORPHA:99885
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Thyrotoxicos... ORPHA:79102
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Postnatal growth retardation, Low posterior h... OMIM:113620
Scorpion Envenomation
Hypokalemia, Hyperglycemia, Glycosuria, Elevated circulating aspartate aminotransferase concentra... ORPHA:466677
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Pmm2-Cdg
Hepatic fibrosis, Insulin resistance, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat ti... ORPHA:79318
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Decreased LDL cholesterol concentration, Micronod... ORPHA:404454
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Biliary atresia, Diabetes m... OMIM:600001
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:444077
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220

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 Foxo1