Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Foxo1tm1b(EUCOMM)Wtsi HET Early adult 4.98×10-05
preweaning lethality, complete penetrance Foxo1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased erythrocyte cell number Foxo1tm1b(EUCOMM)Wtsi HET   Early adult 1.43×10-05
increased mean corpuscular volume Foxo1tm1b(EUCOMM)Wtsi HET Early adult 5.20×10-05
embryonic lethality prior to tooth bud stage Foxo1tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased circulating bilirubin level Foxo1tm1b(EUCOMM)Wtsi HET Early adult 9.71×10-05

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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thalamus 0.0%
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.35% (2 of 571)
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 1.72% (6 of 349)
dorsal root ganglion 0.0%
ear 0.29% (1 of 349)
embryo 0.29% (1 of 348)
eye 0.0%
footplate 0.28% (1 of 352)
forebrain 0.0%
forelimb 0.28% (1 of 357)
fronto-nasal process 2.04% (1 of 49)
handplate 0.3% (1 of 335)
head 1.39% (5 of 359)
heart 0.28% (1 of 361)
hindbrain 1.2% (4 of 332)
hindlimb 0.28% (1 of 355)
liver 0.0%
lung 0.29% (1 of 348)
mandibular process 0.28% (1 of 352)
maxillary process 0.29% (1 of 345)
midbrain 0.29% (1 of 343)
nose 1.54% (1 of 65)
oral cavity 0.0%
skin 0.29% (1 of 339)
spinal cord 0.0%
tail 0.28% (1 of 353)
tail somite group 0.29% (1 of 347)

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 Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

45 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

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

8 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
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Hypogonadism, ... ORPHA:181393
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Rh-Null, Regulator Type
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... OMIM:224120
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transaminase, Hypogonadism, I... OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... OMIM:606762
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-peptide level, Cirrhos... ORPHA:528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in ... ORPHA:79237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... ORPHA:79083
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Primary Lipodystrophy
Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Lipodystrophy, Diabe... ORPHA:2348
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Lymphedema, Patent d... OMIM:239850
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Hydrops Fetalis
Abnormality of the neck, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion,... ORPHA:1041
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissu... OMIM:608612
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ... ORPHA:435651
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... ORPHA:2089
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Splenomegal... OMIM:607765
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... ORPHA:280365
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Short neck, Edema, Ascites, Pericardial effusion OMIM:608776
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... ORPHA:1131
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Hereditary Spherocytosis
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneou... ORPHA:822
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Placental Insufficiency
Insulin resistance, Hypoxemia ORPHA:439167
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cirrhosis, Hepatic fib... OMIM:602579
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirub... OMIM:613280
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-c... OMIM:246200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... ORPHA:811
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites ORPHA:2414
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hepatic fi... ORPHA:79319
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic gl... ORPHA:2088
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hypocholesterolemia, De... ORPHA:96180
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Lower eyelid edema, Aortic valve stenosis, Short sta... ORPHA:363705
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... OMIM:611881
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Potocki-Lupski Syndrome
Hypothyroidism, Hypocholesterolemia OMIM:610883
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
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
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Pulmonary artery stenosis, Severe postnatal growth retardation ORPHA:435938
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Chylomicron Retention Disease
Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipid d... ORPHA:71
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Neonatal hyperbilirubinemia, Hypogonadism, Insulin resistance ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Alkuraya-Kucinskas Syndrome
Cystic hygroma, Pericardial effusion, Edema, Webbed neck OMIM:617822
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Delayed eruption of teeth, Spina bifida ... OMIM:235510
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance, He... ORPHA:91
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... ORPHA:1667
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... OMIM:619167
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular ventricular septal defect,... OMIM:115197
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Woodhouse-Sakati Syndrome
Hyperlipidemia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response ... ORPHA:3464
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Refractory sideroblast... OMIM:557000
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion ORPHA:36412
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Hyperphenylalaninemia, Maternal hyperphe... OMIM:261600
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hypokalemia, H... ORPHA:508
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Short Syndrome
Insulin resistance, Lipodystrophy, Diabetes mellitus ORPHA:3163
Alg12-Cdg
Abnormal adipose tissue morphology, Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbum... ORPHA:79324
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... OMIM:618775
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... ORPHA:465508
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Macroglossia, Atrioventricular canal defect, Ventric... ORPHA:453499
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Impaired glucose tolerance, Decreased a... OMIM:606721
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Hypothyroidism, Elevated hepatic trans... OMIM:212065
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Edema, Pericarditis, Ascites, Intrauterine growth retardation, Peri... OMIM:619487
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Webbed ne... ORPHA:536532
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Growth delay, Ascites, Pericardial effusion ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Whipple Disease
Hepatomegaly, Splenomegaly, Hypothyroidism, Hyponatremia, Insulin resistance ORPHA:3452
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Monosomy 13Q34
Insulin resistance, Infantile hypercalcemia, Hepatic steatosis ORPHA:96168
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... ORPHA:412
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... ORPHA:14
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Gaucher Disease Type 1
Pedal edema, Abnormal myocardium morphology, Delayed puberty, Growth delay, Ascites, Pericardial ... ORPHA:77259
Werner Syndrome
Type II diabetes mellitus, Thyroid carcinoma, Lipoatrophy, Lipodystrophy, Hypogonadism, Insulin r... ORPHA:902
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Alg9-Cdg
Torticollis, Atrial septal defect, Thickened nuchal skin fold, Short neck, Hydrops fetalis, Ventr... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:293939
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:93552
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche ORPHA:813
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Camptodactyly of finger, Ventricular sept... ORPHA:261330
Myhre Syndrome
Atrial septal defect, Aortic valve stenosis, Short stature, Short neck, Birth length less than 3r... OMIM:139210
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Hypothyroidism, Diabetes mellitus OMIM:616541
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Cholestasis, Hepatitis, Porta... ORPHA:440713
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Bor Syndrome
Branchial cyst ORPHA:107
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... ORPHA:88673
Kaposiform Lymphangiomatosis
Abnormality of the neck, Pericardial effusion, Pleural effusion ORPHA:464329
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokal... ORPHA:358
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:269880
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... ORPHA:447
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Hyperglycemia OMIM:619737
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, H... OMIM:277900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... ORPHA:26793
Atypical Werner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Glycosuria, Generalized lipodystrophy, ... ORPHA:79474
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity OMIM:612716
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760