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Gene: Sirt3 MGI:1927665

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Gene Summary

Name:
sirtuin 3
Synonyms:
Sir2l3,  2310003L23Rik

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
vertebral fusion Sirt3tm1b(EUCOMM)Wtsi HOM   Early adult 7.84×10-07
abnormal gait Sirt3tm1b(EUCOMM)Wtsi HOM Early adult 8.49×10-07
increased circulating alanine transaminase level Sirt3tm1b(EUCOMM)Wtsi HOM Early adult 6.48×10-06
increased circulating creatine kinase level Sirt3tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-07

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  Wholemount images heterozygote 66.67% (4 of 6)
Aorta  Wholemount images heterozygote 50% (3 of 6)
Brain  Wholemount images heterozygote 66.67% (4 of 6)
Brainstem  Wholemount images heterozygote 66.67% (4 of 6)
Brown adipose tissue  Wholemount images heterozygote 66.67% (4 of 6)
Cartilage tissue  Wholemount images heterozygote 66.67% (4 of 6)
Cerebellum  Wholemount images heterozygote 66.67% (4 of 6)
Cerebral cortex  Wholemount images heterozygote 66.67% (4 of 6)
Gall bladder  Wholemount images heterozygote 66.67% (4 of 6)
Heart  Wholemount images heterozygote 66.67% (4 of 6)
Hippocampus  Wholemount images heterozygote 66.67% (4 of 6)
Hypothalamus  Wholemount images heterozygote 66.67% (4 of 6)
Kidney  Wholemount images heterozygote 66.67% (4 of 6)
Liver  Wholemount images heterozygote 66.67% (4 of 6)
Lower urinary tract  Wholemount images heterozygote 50% (3 of 6)
Lung  Wholemount images heterozygote 50% (3 of 6)
Olfactory lobe  Wholemount images heterozygote 66.67% (4 of 6)
Oviduct  Wholemount images heterozygote 50% (3 of 6)
Parathyroid gland  Wholemount images heterozygote 66.67% (4 of 6)
Peripheral nervous system  Wholemount images heterozygote 50% (3 of 6)
Pituitary gland  Wholemount images heterozygote 66.67% (4 of 6)
Spinal cord  Wholemount images heterozygote 66.67% (4 of 6)
Stomach  Wholemount images heterozygote 66.67% (4 of 6)
Striatum  Wholemount images heterozygote 66.67% (4 of 6)
Testis  Wholemount images heterozygote 33.33% (2 of 6)
Thyroid gland  Wholemount images heterozygote 66.67% (4 of 6)
Trachea  Wholemount images heterozygote 66.67% (4 of 6)
Uterus  Wholemount images heterozygote 50% (3 of 6)
Bone N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 0.0% (0 of 6)
Eye N/A heterozygote 0.0% (0 of 6)
Large intestine N/A heterozygote 16.67% (1 of 6)
Lymph node N/A heterozygote 0.0% (0 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Oral epithelium N/A heterozygote 0.0% (0 of 6)
Ovary N/A heterozygote 0.0% (0 of 6)
Pancreas N/A heterozygote 0.0% (0 of 6)
Peyer's patch N/A heterozygote 0.0% (0 of 6)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 6)
Skin N/A heterozygote 0.0% (0 of 6)
Small intestine N/A heterozygote 0.0% (0 of 6)
Spleen N/A heterozygote 0.0% (0 of 6)
Thymus N/A heterozygote 0.0% (0 of 6)
Vascular system N/A heterozygote 0.0% (0 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

30 Images

View images
Echo

M-Mode Images

36 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

30 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

30 Images

View images
Adult LacZ

LacZ Images Wholemount

17 Images

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X-ray

XRay Images Forepaw

9 Images

View images
Legacy Phenotype Associated Images
Sirt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sirt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sirt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sirt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sirt3tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 105 images

Sirt3tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Sirt3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sirt3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Gout, Increased LDL cholesterol concentration, ... OMIM:610947
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in females, Lipodystrop... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Elevated circulating creatine kinase concentration OMIM:606768
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... ORPHA:79319
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hypergonadotro... ORPHA:79237
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... ORPHA:276556
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose t... OMIM:608709
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... OMIM:603552
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... OMIM:607155
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Increased circulating interleukin 10 concentration, Portal inflammation, Elevated circulating ala... OMIM:613759
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyper... OMIM:602579
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ankle flexion contractu... OMIM:613818
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... ORPHA:2088
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc... ORPHA:254531
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circulating Ig... OMIM:620282
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... OMIM:606612
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inflammation, Hep... OMIM:619858
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... ORPHA:26792
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... ORPHA:465508
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puber... ORPHA:633
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity, Delayed puberty ORPHA:140941
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... OMIM:617253
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellit... ORPHA:412
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... OMIM:201475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... OMIM:251880
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Immunodeficiency 47
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper... OMIM:300972
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy... OMIM:245900
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr... OMIM:261680
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... ORPHA:540
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... ORPHA:681
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Ja... ORPHA:444490
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality ... ORPHA:186
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure OMIM:177000
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus... OMIM:617591
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole... ORPHA:567548
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... OMIM:301045
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Very long c... ORPHA:98908
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen... ORPHA:48818
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Failure to thrive, Hypergonadotro... OMIM:212065
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... ORPHA:30391
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Splenomeg... OMIM:308230
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp... ORPHA:275761
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... ORPHA:33110
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Hypothy... OMIM:617575
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... ORPHA:171
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... ORPHA:231226
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui... ORPHA:90674
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... OMIM:238970
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... ORPHA:99901
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... ORPHA:169160
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho... OMIM:614602
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis,... OMIM:619487
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... ORPHA:848
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Recurrent skin infections, Eczema, Increased circulating ferritin concentra... OMIM:619802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop... ORPHA:39812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... OMIM:603553
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Hyperproteinemi... ORPHA:90041
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Gait disturbance, Scoliosis ORPHA:1445
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Abnormal c... ORPHA:381
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... ORPHA:14
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis OMIM:616730
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp... ORPHA:79259
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis... OMIM:615207
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... OMIM:304790
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... ORPHA:231214
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy... OMIM:616033
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Akinesia, Fl... OMIM:253290
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... OMIM:194380
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... OMIM:613385
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... ORPHA:36234
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Sitosterolemia 1
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Elevated ... OMIM:210250
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... OMIM:616263
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Insulin resistance, M... ORPHA:3452
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Senior-Loken Syndrome 9
Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism, Hepatic fibrosis OMIM:616629
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... ORPHA:819
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Failur... ORPHA:3008
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... OMIM:606003
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Splenome... OMIM:222470
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Re... OMIM:214150
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Celluli... ORPHA:549
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... OMIM:613686
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Decreased circulatin... ORPHA:572
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Spleno... OMIM:308240
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Psoriasiform dermatitis, Bronchiectasis, ... ORPHA:168569
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210200
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperthyroidism, Elevated circulating growth hormone concentration... ORPHA:562
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Eczema, Minimal change glomerulonephritis OMIM:618348
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ... ORPHA:52430
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Decreased response to growth hormone stimu... ORPHA:293987
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnor... ORPHA:79474
Mednik Syndrome
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... OMIM:609313
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Small for gestational age, Gastritis, Hypothyroidism, Splenomegaly... ORPHA:84064
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... ORPHA:915
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:216360
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Myasthenia Gravis
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, ... ORPHA:589
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... ORPHA:227990
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... ORPHA:227982
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... OMIM:231680
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... OMIM:240300
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis OMIM:619471
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, ... ORPHA:254346
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu... OMIM:619573
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero... ORPHA:415
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Ataxia, Thoracic kyphosis, Scoliosis ORPHA:530983
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... ORPHA:298
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased ... OMIM:615846
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... OMIM:232200
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Frontometaphyseal Dysplasia 1
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... OMIM:305620
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... ORPHA:333
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... OMIM:208500
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Elevated alkaline phos... OMIM:615363
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis, Obesity ORPHA:110
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr... ORPHA:70472
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... OMIM:616541
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas ORPHA:210548
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... ORPHA:466677
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Exocrine pancreatic insuffi... OMIM:620005
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Inflammat... ORPHA:565612
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczema... ORPHA:83471
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Decreased circulating IgG l... ORPHA:3261
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Osteolysis, Fus... OMIM:612852
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P... OMIM:236200
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Estrogen Resistance Syndrome
Acne, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level... ORPHA:785
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Decreased circulating antibody level, Agamma... OMIM:243150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormality of the endocrine system, Thyroiditis, H... ORPHA:391487
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypertriglyceri... ORPHA:167
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... ORPHA:746
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular ca... OMIM:232220
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Congenital hep... ORPHA:1454
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema ORPHA:319218
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He... ORPHA:90062
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... ORPHA:358
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:615273
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... OMIM:150250
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... OMIM:229600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Pneumonia, Skin rash, Adipose tissue loss, Insulin ... ORPHA:125
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei... OMIM:619381
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... ORPHA:96169
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... OMIM:130720
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Difficulty walking ORPHA:370010
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... ORPHA:2959
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre... OMIM:619991
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circula... OMIM:210900
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... ORPHA:66634
Werner Syndrome
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... ORPHA:902
Lichen Planopilaris
Hepatitis ORPHA:525
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... OMIM:613658
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... OMIM:215600
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Low alkalin... ORPHA:369837
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... OMIM:171480
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Tubulointerstitial nephr... OMIM:218330
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... ORPHA:20
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG... ORPHA:319251
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... OMIM:260370
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets... OMIM:220111
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:309000
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... OMIM:610443
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Redu... ORPHA:556955
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipi... OMIM:232240
Arnold-Chiari Malformation Type I
Stiff neck, Gait ataxia, Fused cervical vertebrae, Progressive cerebellar ataxia, Scoliosis, Cerv... ORPHA:268882
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Gaucher Disease
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:355
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension ORPHA:974
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Recurrent pneumonia, Increased circulating IgM l... OMIM:617303
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis OMIM:619879
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Hepatic fibrosis OMIM:613989
Mucopolysaccharidosis Type 7
Splenomegaly, Inguinal hernia, Umbilical hernia, Hepatitis ORPHA:584
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia OMIM:200995
Zygomycosis
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... ORPHA:73263
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hepa... ORPHA:1855
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... OMIM:600001
Johanson-Blizzard Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Small for gestational age, Elevated circulati... OMIM:243800
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... ORPHA:509
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme ... ORPHA:17
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis ORPHA:1334
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellit... ORPHA:436252
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... OMIM:268310
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Aapoaiv Amyloidosis
Diabetes mellitus, Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration ORPHA:439232
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Gait imbalance, Flat acetabular roof OMIM:617159
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol... ORPHA:534
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc... ORPHA:90652
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo... ORPHA:79318
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... OMIM:109400
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia, Recurrent pneumonia OMIM:616271
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreas... ORPHA:3455
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive ORPHA:436271
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Limb j... ORPHA:404454
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Myhre Syndrome
Vertebral fusion, Ataxia, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged ver... OMIM:139210
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... ORPHA:453533
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Orofaciodigital Syndrome I
Pancreatic cysts, Enamel hypoplasia, Hepatic fibrosis, Hepatic cysts OMIM:311200
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Microphthalmia, Syndromic 3
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... ORPHA:3260
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Periportal fibrosis OMIM:269860
Alg9-Cdg
Omphalocele, Hepatomegaly, Lipodystrophy, Periportal fibrosis, Hypoplasia of the ovary, Hepatic c... ORPHA:79328
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacteria... ORPHA:2072
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Minimal change glomerulonephritis, ... ORPHA:1830
Duane Retraction Syndrome
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... ORPHA:233
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... OMIM:220110
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi... ORPHA:198
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Failure to thrive, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepat... OMIM:618278
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Atelosteogenesis, Type I
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... OMIM:108720
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Aspiration pneumonia, Hyperglycem... ORPHA:444077
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Eczema, Precocious puberty, Splenomegaly, Cholestatic liver disease, Hypoalbuminemi... OMIM:270400
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis OMIM:619321
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation... ORPHA:508498
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Microvesicular h... OMIM:300868
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis ORPHA:567546
Aicardi Syndrome
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis OMIM:304050
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... OMIM:188400
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Scoliosis ORPHA:50
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal... OMIM:194190
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... OMIM:617137
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis ORPHA:97360
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp... OMIM:616260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... OMIM:157800
Ogden Syndrome
Inguinal hernia, Eczema, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesi... OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Failure to thrive, Osteomyelitis, Overweight, Jaundice, Obesity, H... OMIM:619475
Thrombocytopenia-Absent Radius Syndrome
Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, Carpal synosto... OMIM:274000
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... OMIM:619503
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... ORPHA:2968
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... OMIM:613458
Fabry Disease
Hyperlipidemia, Arthritis, Delayed puberty, Abnormal circulating lipid concentration, Diabetes in... ORPHA:324
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of th... ORPHA:1606
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... ORPHA:83617
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Congenital hepatic fibrosis ORPHA:93271
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia OMIM:164210

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 Sirt3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sirt3.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Sirt3tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sirt3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sirt3tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Sirt3tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sirt3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sirt3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sirt3tm47264(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sirt3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Sirt3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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