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Gene: Ppara MGI:104740

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Gene Summary

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

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
abnormal eye anterior chamber depth Pparatm1b(EUCOMM)Wtsi HOM   Early adult 1.66×10-06
abnormal skin coloration Pparatm1b(EUCOMM)Wtsi HOM Early adult 5.22×10-05
abnormal coat appearance Pparatm1b(EUCOMM)Wtsi HOM Early adult 2.82×10-08

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right fundus

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of left eye

14 Images

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Eye Morphology

VIP of left fundus

14 Images

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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 Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... OMIM:612526
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly ORPHA:2398
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis OMIM:613000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Insulin... OMIM:615980
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adiponect... ORPHA:79085
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... OMIM:608600
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:615395
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Insulin-resist... OMIM:613877
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipo... OMIM:615238
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in lower limbs, Loss of gluteal subcutaneous adipose tissue, Insulin res... ORPHA:435660
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... ORPHA:181393
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Type II ... OMIM:604367
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... ORPHA:276575
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... OMIM:609200
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue ORPHA:71529
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decreased serum leptin, Lipodystr... ORPHA:435651
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Syncope, Maternal diabetes... ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... ORPHA:2457
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:488650
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Gne Myopathy
Hypothyroidism, Muscle fiber inclusion bodies, Shoulder girdle muscle atrophy, Scapular winging, ... ORPHA:602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... ORPHA:324575
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis OMIM:146750
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... OMIM:306000
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin re... ORPHA:528
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea... OMIM:608709
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Myopathy, Distal, 4
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Mildly... OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... OMIM:616828
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:615158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... ORPHA:26793
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... ORPHA:63273
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Myopathy, Insulin resistance ORPHA:79087
Propionic Acidemia
Cardiomyopathy, Hypoglycemia, Hepatomegaly, Arrhythmia ORPHA:35
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... OMIM:615381
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Ele... OMIM:604765
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Pancreatitis, Insulin resistance, Maternal diabetes, Abnormality of ske... ORPHA:79083
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Autoph... OMIM:609500
Analbuminemia
Hypotension, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased ... OMIM:616000
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Neonatal hypoglycemia, Elev... OMIM:212138
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Diabetes mellitus, Distal lower limb muscle weakness, Leg muscle sti... ORPHA:320360
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... OMIM:606069
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Pancreatitis, Insulin resistance, Abnormality of skeletal muscle fiber size, Hepatic ... ORPHA:2348
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... ORPHA:90970
Cholesterol-Ester Transfer Protein Deficiency
Tendon xanthomatosis, Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidem... ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Hypoglycemia, Myopathy,... OMIM:232400
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle... OMIM:300376
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hepati... ORPHA:79086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... ORPHA:26792
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... ORPHA:75234
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, ... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Inflammatory abnormality o... OMIM:610768
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Elevated circulatin... OMIM:181350
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Distal amyotrophy, Elevated hepatic transaminase, Foot dorsiflexor weakness OMIM:618400
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... ORPHA:98912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... OMIM:261750
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis, Type II diabetes mellitus, Increased LDL choleste... OMIM:615812
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Elevated circulating creatine... OMIM:255100
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Elevated hepatic transaminase, Hepatocellular carcinoma, Elevated ci... ORPHA:370
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... OMIM:301075
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Griscelli Syndrome Type 3
Iris hypopigmentation, Partial albinism, Hypopigmentation of hair ORPHA:79478
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Rhabdomy... ORPHA:159
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Dysbetalipoproteinemia
Hypercholesterolemia, Hypothyroidism, Tendon xanthomatosis, Obesity, Hepatic steatosis, Diabetes ... ORPHA:412
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia... ORPHA:199296
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tach... OMIM:600649
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:399058
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:212140
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Anterior hypopituitarism, Congestive heart failure, Hypoglycemia, End... ORPHA:2022
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Dilated cardiomyopathy, Hepatic steatosis, Hypertroph... OMIM:231530
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly, Decreased... OMIM:246900
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... OMIM:278000
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... ORPHA:399103
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Temple Syndrome
Precocious puberty, Flexion contracture, Small for gestational age, Obesity, Maturity-onset diabe... OMIM:616222
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... ORPHA:90065
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitin... ORPHA:79159
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Elevated circulating creati... OMIM:609308
Bronchial Neuroendocrine Tumor
Hypotension, Facial telangiectasia, Increased circulating cortisol level, Cardiogenic shock, Incr... ORPHA:97287
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... OMIM:619386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hypertrophic ca... ORPHA:280365
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Ventricular hypertrophy, Hepatic failure, Elevated circulating acylcarn... ORPHA:228305
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:605814
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Elevated circulating cre... OMIM:604286
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG OMIM:309930
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Hypothyroidism, Righ... ORPHA:263297
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function OMIM:601466
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy OMIM:611283
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Increased body weight, Eleva... ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... ORPHA:209902
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, R... ORPHA:401923
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Late-Onset Familial Hypoaldosteronism
Hypotension, Abnormal circulating corticosterone level, Decreased circulating aldosterone level, ... ORPHA:556037
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Limb-girdle muscle weakness, Rhabdomyolysis, Ketotic hypoglycemia, H... ORPHA:79240
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... ORPHA:563
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Type II diabetes mellitus, Hypertension, Congestive hea... ORPHA:225
Snakebite Envenomation
Hypotension, Rhabdomyolysis, Cerebral ischemia, Cardiogenic shock, Hypopituitarism, Intracranial ... ORPHA:449285
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol... OMIM:616516
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... OMIM:618234
Familial Glucocorticoid Deficiency
Hypotension, Precocious puberty, Decreased circulating aldosterone level, Ketotic hypoglycemia, D... ORPHA:361
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Elevated hepatic transaminase, Hypertrophic cardiomyopathy... ORPHA:156
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Atrial Standstill 1
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... OMIM:108770
Early-Onset Familial Hypoaldosteronism
Hypotension, Abnormal circulating corticosterone level, Decreased circulating aldosterone level, ... ORPHA:556030
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Laron Syndrome
Hypercholesterolemia, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... ORPHA:2298
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinas... OMIM:145600
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Nemaline Myopathy 11, Autosomal Recessive
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Type 1 muscle fiber predomina... OMIM:617336
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentrati... OMIM:615352
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, ... ORPHA:206569
Post-Traumatic Pituitary Deficiency
Hypotension, Decreased response to growth hormone stimulation test, Decreased circulating ACTH le... ORPHA:95619
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Impaired gl... OMIM:617253
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia, Cardiomyopathy ORPHA:67048
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... OMIM:261740
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... OMIM:613327
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Rheumatoid ar... ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin... ORPHA:42
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Hepatomegal... OMIM:613313
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... ORPHA:206546
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hyperuricemia, Abnormality of the endocrine system, Diabetes mellitus, Abnormalit... ORPHA:77296
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Necrotizing Enterocolitis
Hypotension, Abnormal glucose homeostasis, Shock, Abnormal heart morphology, Hyponatremia, Hyperg... ORPHA:391673
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Hyponatremia, Hyperactive... OMIM:264350
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... OMIM:255160
Familial Multiple Lipomatosis
Increased adipose tissue, Insulin resistance, Lipodystrophy, Overgrowth, Hyperlipidemia, Abnormal... ORPHA:199276
Hemochromatosis, Type 2A
Arthritis, Dilated cardiomyopathy, Congestive heart failure, Increased circulating ferritin conce... OMIM:602390
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Hyperalaninemia, Left ventricular noncompaction OMIM:617228
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c... OMIM:609452
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... OMIM:261680
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis,... OMIM:231100
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Neuroendocrine Tumor Of The Colon
Hypotension, Facial telangiectasia, Tricuspid regurgitation, Increased serum serotonin, Atypical ... ORPHA:100080
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis OMIM:604117
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Alstrom Syndrome
Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus... OMIM:203800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis OMIM:607685
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... ORPHA:206559
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... OMIM:177735
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... OMIM:300559
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Imp... OMIM:248370
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Portal vein hypoplasia, Portal artery hyperp... OMIM:619433
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... ORPHA:35878
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... OMIM:607616
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Whipple Disease
Hypotension, Hypothyroidism, Arthritis, Insulin resistance, Uveitis, Pericarditis, Myocardial inf... ORPHA:3452
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:608358
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... OMIM:616827
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Pineal cyst, Elevated hepatic transaminase, Hepatic stea... ORPHA:98908
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Elev... OMIM:300718
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased variability in muscle fiber diameter, Cardiomyopathy, Increased cir... OMIM:613752
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... ORPHA:91354
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... OMIM:269700
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension OMIM:611489
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Congenital Enterovirus Infection
Hypotension, Pericardial effusion, Skin rash, Hepatitis, Hyperammonemia, Hypoalbuminemia, Infecti... ORPHA:292
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal amyotrophy, Hypoalbuminemia, Distal lower limb muscle weakness, Hypercholesterolemia ORPHA:94124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Elevated circulating crea... OMIM:612937
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Neuroendocrine Tumor Of The Rectum
Hypotension, Facial telangiectasia, Increased serum serotonin, Atypical pulmonary carcinoid tumor... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hypotension, Facial telangiectasia, Increased serum serotonin, Atypical pulmonary carcinoid tumor... ORPHA:100082
Bardet-Biedl Syndrome 19
Ventricular septal defect, Hypogonadism, Atrial septal defect, Hepatic steatosis, Hypoplastic lef... OMIM:615996
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Abnormal cardiac ventricular function, Elevated hepatic transaminase, Hypoglycem... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:614582
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Amoebiasis Due To Free-Living Amoebae
Pustule, Myocardial necrosis, Sinusitis, Abnormality of the adrenal glands, Arrhythmia, Infectiou... ORPHA:68
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t... ORPHA:96184
Scrub Typhus
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... OMIM:611126
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb muscle weakness, Generalized amyotrophy, Abnormal EKG, Diabetes mellitus, Lower limb h... ORPHA:1177
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia ORPHA:941
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis, Pancreatitis ORPHA:188
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:605911
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin l... OMIM:203400
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Left ventricular hypertrophy, Hypertension, Pituit... OMIM:102200
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Sho... ORPHA:36234
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Elevated circulating C-reactive protein concentra... ORPHA:767
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:618620
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... OMIM:615184
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Legionnaires Disease
Hypotension, Endocarditis, Hepatitis, Pericarditis, Arrhythmia, Hyponatremia, Infectious encephal... ORPHA:549
Infantile Liver Failure Syndrome 2
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Acute hepatic failure, Cardiomyopathy OMIM:616483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... OMIM:613155
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly, Cholestatic li... ORPHA:5
Aromatase Deficiency
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... ORPHA:91
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Steatorrhea OMIM:260400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:603552
Adult Acute Respiratory Distress Syndrome
Hypotension, Diabetic ketoacidosis, Shock, Pneumonia, Pancreatitis, Vasculitis ORPHA:70578
Cog4-Cdg
Cirrhosis, Limb hypertonia, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolem... ORPHA:263501
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili... ORPHA:3111
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... ORPHA:139491
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration ORPHA:363549
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Citrullinemia Type Ii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hyperammonemia, ... ORPHA:247585
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... OMIM:619903
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia, Hypertension, Arrhythmia ORPHA:3222
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Macroglossia, Elevated circulating creatine kinase concentration, Fai... OMIM:500009
Nephrotic Syndrome, Type 11
Ventricular septal defect, Minimal change glomerulonephritis, Dilated cardiomyopathy, Hypercholes... OMIM:616730
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... ORPHA:401768
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... ORPHA:90791
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... ORPHA:99901
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:617093
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Aa Amyloidosis
Hypotension, Hypothyroidism, Adrenal insufficiency, Abnormal heart morphology ORPHA:85445
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy OMIM:608540
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H... ORPHA