Gene Summary

Name:
peroxisome proliferator activated receptor alpha
Synonyms:
PPARalpha,  Nr1c1,  PPAR-alpha,  4933429D07Rik,  Ppar

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye anterior chamber depth Pparatm1b(EUCOMM)Wtsi HOM   Early adult 8.48×10-07
abnormal skin coloration Pparatm1b(EUCOMM)Wtsi HOM Early adult 6.46×10-05
abnormal coat appearance Pparatm1b(EUCOMM)Wtsi HOM Early adult 3.26×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Bone  Wholemount images heterozygote Ambiguous
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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.

Eye Morphology

VIP of left fundus

9 Images

Eye Morphology

VIP of right eye

12 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Ppara 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 Ppara by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipo... ORPHA:280356
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Glucose intole... OMIM:610947
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Hepatomegaly OMIM:609016
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Skeletal muscle atrophy, Lo... OMIM:615980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Proximal muscle weakness in lower limbs, Obesity, Abnormal circulating sele... ORPHA:171706
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in upper limbs, Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insuli... ORPHA:435660
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Loss of gluteal subcutaneous adipose tissue... OMIM:604367
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy OMIM:613752
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypoglycemic seizures, Fa... ORPHA:276575
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Myopathy, Ca... OMIM:610717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... OMIM:609200
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Fasting hypoglycemia, Maternal diabetes, Hyperi... ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy, D-2-hydroxyglutaric acidemia OMIM:613657
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypoglycemic seizures, Ex... ORPHA:276556
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:63273
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increase... ORPHA:71212
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Hyp... ORPHA:324575
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis OMIM:146750
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hyperalaninemia OMIM:618250
Gne Myopathy
Lower limb amyotrophy, Hypothyroidism, Foot dorsiflexor weakness, Weakness of long finger extenso... ORPHA:602
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma OMIM:615522
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Diabetes mellitus, Distal lower limb muscle weakness, Supra... ORPHA:320360
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Myopathy, Distal, 4
Skeletal muscle atrophy, Mildly elevated creatine kinase, Abnormality of the calf musculature, Ca... OMIM:614065
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Myopathy, X-Linked, With Postural Muscle Atrophy
Flexion contracture, Arrhythmia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinas... OMIM:300696
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Recurrent ... OMIM:212140
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Insulin resistance, Lipoatrophy ORPHA:79087
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:609500
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Hepatomegaly, Arrhythmia ORPHA:35
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Hypoproteinemia, Patent foramen ovale, Arrhythm... ORPHA:26793
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Sitosterolemia 2
Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Cirrhosis, Insulin resistance, Hyperuricemia, Hypertrophic cardiomyopathy, Abn... ORPHA:79083
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Skeletal muscle atrophy, Hypercholesterolemia, Splenomegaly,... OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Analbuminemia
Elevated circulating transferrin concentration, Patent ductus arteriosus, Hypercholesterolemia, H... OMIM:616000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Small for gestational age, Hyperinsulinemia,... ORPHA:79237
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Hypertrophic cardiomyopathy, Ab... ORPHA:2348
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine concentration, Failur... ORPHA:26792
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypog... OMIM:212138
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration,... OMIM:300376
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Macrovesicular hep... OMIM:618234
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsuli... ORPHA:369873
Glycogen Storage Disease Iii
Hypoglycemia, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Distal amyot... OMIM:232400
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hepatomegaly, Fa... OMIM:617872
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Decreased liver function, Hepatomegaly, Elevated hepat... OMIM:246900
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Foot dorsiflexor weakness, Elevated hepatic transaminase, Distal amyotrophy OMIM:618400
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Cardiomyopathy, Familial Hypertrophic, 28
Myocardial late gadolinium enhancement, Reduced ejection fraction, Apical hypertrophic cardiomyop... OMIM:619402
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Increased hepatic glycogen content, Hepatomegaly, Port... ORPHA:369
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Chole... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Chole... ORPHA:71526
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy,... OMIM:255100
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cholestasis, Portal fibrosis, Fasting hypoglycemia, Skeletal muscle atrophy, Increased sarcoplasm... ORPHA:370
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Macroglossia, Abnormal heart mo... ORPHA:99886
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... ORPHA:98911
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy... OMIM:261740
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Elevated circulating creatine kinase concent... OMIM:612999
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Nemaline bodies, Cardiomyopathy, Scapular winging OMIM:617336
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... ORPHA:199296
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Fasting hypoglycemia, Ventricular tachycardia, Arrhythmia, Elevated circulating a... ORPHA:159
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dys... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypothyroidism, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Endocardial Fibroelastosis
Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, Anterior hypopituitarism, Res... ORPHA:2022
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hy... OMIM:231530
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... OMIM:278000
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating creati... OMIM:609308
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:79159
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cirrhosis, Cholestasis, Skeletal muscle at... ORPHA:264580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Rhabdomyolysis, Hepatic failure, Decreased plasma total carnitine, Elevated ci... ORPHA:228305
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Muscle hypertrophy of the lower extremities, Decreased adiponectin leve... ORPHA:280365
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Hypoketotic hypoglycemia, Elevated... OMIM:600649
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Congestive heart failure, Cerebral hemorrhage, Hypercholesterolemia, ST segment d... ORPHA:90065
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Rhabdomyolysis, Hypercholesterolemia, Skeletal muscle... ORPHA:79240
Myopathy, Distal, 1
Dilated cardiomyopathy, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles... OMIM:160500
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Hypertrophic card... OMIM:608810
Bronchial Neuroendocrine Tumor
Pneumonia, Pulmonary carcinoid tumor, Cardiogenic shock, Hypotension, Elevated circulating growth... ORPHA:97287
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased plasma carnitine OMIM:611283
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Obesity, Cholesterol gallstones, Acute hepa... ORPHA:209902
Mody
Glycosuria, Large for gestational age, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, ... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Abnormal circulating lipid concentration, Hypertrophic card... ORPHA:225
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Musc... OMIM:613327
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Abnormal circulating co... ORPHA:556037
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Hypoglycemia, Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, ... ORPHA:156
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Hypercholesterolemia, Renovascular hypertension, Bi... ORPHA:401923
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Hyponatremia, Decreased circu... ORPHA:361
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Snakebite Envenomation
Rhabdomyolysis, Hyponatremia, Muscle fiber necrosis, Cardiogenic shock, Hypopituitarism, Hypotens... ORPHA:449285
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Elevated circulating apolipoprotein ... OMIM:144250
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Congenital muscular dystrophy, Abnormal left ventricular function, Muscular ... OMIM:613155
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Abnormal circulating co... ORPHA:556030
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma OMIM:617525
Immune-Mediated Necrotizing Myopathy
Myositis, Congestive heart failure, Skeletal muscle atrophy, Proximal muscle weakness in lower li... ORPHA:206569
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Hy... OMIM:145600
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, Decreased liver function ORPHA:67048
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy, Elevated hepatic transamina... OMIM:613313
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduce... ORPHA:34515
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Insulin resistance, Abnormal tricuspid valve morphology, Increased... ORPHA:199276
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:179494
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Hypoglycemia, Decreased plasma total carnitine, Skeleta... ORPHA:42
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Autophagic vacuoles, Elevated circulating c... OMIM:609452
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Increased circulating ferritin concentration, Hypogonadotropic hypogonadi... OMIM:602390
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice,... OMIM:231100
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Osteoarthritis, Acne, Hyp... ORPHA:77296
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:617228
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Limb-girdle muscular dystrophy, Muscular dystrophy, Hepatomegaly, Myopathy, El... ORPHA:369840
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Necrotizing Enterocolitis
Hyponatremia, Peritonitis, Hypotension, Abnormal heart morphology, Bradycardia, Hyperglycemia, Sh... ORPHA:391673
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Congesti... OMIM:611126
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperalaninemia, Arrhythmia OMIM:614702
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Cardiac myxoma, Adrenal hyperplasia, Pigmented micronodular ad... ORPHA:189439
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Skeletal muscle atrophy, Atrial septal defect, Hypermethioninemia... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Alstrom Syndrome
Dilated cardiomyopathy, Recurrent pneumonia, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia... OMIM:203800
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Hypotension, Abnormal pulmonary valve cusp morphology, Increased serum serotonin... ORPHA:100080
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Endocardial fibrosis OMIM:607685
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Cardiomyopathy, Global systolic dysfunction, Limb muscle weakness OMIM:606842
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Generalized muscular appearance from birth, Hepatic steatosis, Acute pancreatitis,... OMIM:608594
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy, Elevated circulating... OMIM:615352
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function, Skeletal muscle atrophy, Muscular dystrophy, M... OMIM:616827
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Hyperactive renin-angiotensin system, Pseudohypoaldoster... OMIM:264350
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Generalized muscular appearance from birth, Hepatic steatosis, Acute pancreatitis,... OMIM:269700
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Whipple Disease
Hypothyroidism, Myositis, Hyponatremia, Gastrointestinal hemorrhage, Uveitis, Insulin resistance,... ORPHA:3452
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Hyperactive renin-ang... OMIM:177735
Fanconi-Bickel Syndrome
Glycosuria, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Fasting... ORPHA:2088
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Re... ORPHA:206559
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, Hypertrophic cardiomyopathy, EMG: myo... OMIM:608358
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Reduced ejection fraction, Hyper... OMIM:201475
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Dpm3-Cdg
Dilated cardiomyopathy, Muscular dystrophy, Elevated creatine kinase after exercise, Calf muscle ... ORPHA:263494
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Hypotension, Increased circulating pro... ORPHA:91354
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Patent foramen ov... OMIM:614582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber dia... OMIM:612937
Congenital Enterovirus Infection
Infectious encephalitis, Hypotension, Myocarditis, Cardiomyopathy, Hepatitis, Hypoalbuminemia, Pe... ORPHA:292
Salih Myopathy
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Elevated circulating creatine kinase con... OMIM:611705
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Foot dorsiflexor weakness, Ventricular tachycardi... ORPHA:263297
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:612954
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Precocious puberty, Ma... ORPHA:96184
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Arrhythmia, Infectious encephalitis, Myocardial necrosis, Pustule, Abnormal... ORPHA:68
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Hypoglycemia, Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Abnor... ORPHA:2394
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Decreased body weight, Hyperlipidemia, Recurrent... ORPHA:444490
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Tr... OMIM:619433
Neuroendocrine Tumor Of The Rectum
Hematochezia, Carcinoid tumor, Hypotension, Abnormal pulmonary valve cusp morphology, Increased s... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Carcinoid tumor, Hypotension, Abnormal pulmonary valve cusp morphology, Increased s... ORPHA:100082
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Prolonged ne... OMIM:256810
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia OMIM:610768
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Elevated circulat... OMIM:102200
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction, Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent otitis media, Hyponatremia, Abnormal size of pituitary gland, Recu... ORPHA:293978
Scrub Typhus
Infectious encephalitis, Hypotension, Myocarditis, Anterior uveitis, Skin rash ORPHA:83317
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Cardiomyopathy, Hypertension, Pericarditis... ORPHA:767
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Hypergonadotropic hypogonadism, E... ORPHA:91
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Increased variability... OMIM:300718
Systemic Capillary Leak Syndrome
Arrhythmia, Hypotension, Myocarditis, Pancreatitis, Pericarditis ORPHA:188
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hepatitis, Fasciitis, Skin rash, Recurrent skin in... ORPHA:36234
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Delayed menarche, Hypercholesterolemia, Eleva... ORPHA:247585
Legionnaires Disease
Hyponatremia, Arrhythmia, Infectious encephalitis, Hypotension, Myocarditis, Pancreatitis, Hepati... ORPHA:549
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricular septal d... OMIM:614876
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Decreased circulating... OMIM:203400
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Steatorrhea OMIM:260400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Cholestasis, Obesity, Adre... OMIM:609734
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect, Hypoalbuminemia, Minimal... OMIM:616730
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Acute hepatic failure, Cardiomyopathy, Elevated hepatic transaminase OMIM:616483
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia, Hyperuricemia ORPHA:3222
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cholestatic li... ORPHA:5
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Hypotension, Vasculitis, Pancreatitis, Shock ORPHA:70578
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarn... ORPHA:99901
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Flexion contracture, Hepatomegaly, Splenomegaly OMIM:608540
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increas... ORPHA:171442
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Aa Amyloidosis
Adrenal insufficiency, Abnormal heart morphology, Hypothyroidism, Hypotension ORPHA:85445
Colchicine Poisoning
Hypovolemia, Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Abnormal blood ion ... ORPHA:31824
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration ORPHA:363549
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, EMG: myopathic abnormalities, Failure... ORPHA:71
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Increased variability in muscle fiber dia...