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Gene: Fstl3 MGI:1890391

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Gene Summary

Name:
follistatin-like 3
Synonyms:
Flrg,  E030038F23Rik

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 testis morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal liver morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged testis Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00

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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section 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)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
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)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue 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 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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)
blood 0.0%
bone marrow 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)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
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 adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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 Hind Leg and Hip

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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Adult LacZ

LacZ Images Section

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

7 Images

View images

Human diseases caused by Fstl3 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 Fstl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Diabetes mellitus, Polycys... ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... ORPHA:280356
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Hypertension, Incre... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... OMIM:604367
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia OMIM:273150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:615395
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertension, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes me... OMIM:613877
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Congestive heart failure, Hypertension, Hepatic st... OMIM:615703
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertension, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, De... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic h... ORPHA:276575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Syncope, Maternal diabetes, Hyp... ORPHA:324575
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Hepatic steatosis, Diabetes mellitus, Polycystic ovari... OMIM:608709
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hypertension, Elevated circulating creatine kinase concentration, Hepatic ste... OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... OMIM:612526
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Arrhyt... OMIM:606069
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... OMIM:151660
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... OMIM:619048
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congesti... ORPHA:90970
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Increased adipose tissue, Hypertension ORPHA:71529
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Acute pancreati... ORPHA:79086
Familial Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Syncope, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperp... ORPHA:276556
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Gonadotropin deficiency, Increased adipose tissue, Decreased response to growth... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Gonadotropin deficiency, Increased adipose tissue, Decreased response to growth... ORPHA:71526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Myocar... OMIM:610947
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly ORPHA:2398
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Polycystic ovaries... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Adrenal insufficiency, Elevated circ... OMIM:619386
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Pancreatitis, Insulin resistance, Congestive heart failure, Hypertension, Maternal dia... ORPHA:79083
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Diabetes mellitus, Hypertension OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... OMIM:600649
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Decreased serum leptin,... ORPHA:79085
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Adipose tissue loss, Congestive heart... ORPHA:528
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Patent Ductus Venosus
Hepatic steatosis, Congenital portosystemic venous shunt, Persistent patent ductus venosus, Decre... OMIM:601466
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Pancreatitis, Insulin resistance, Congestive heart failure, Hepatic steatosis, Lipody... ORPHA:2348
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... OMIM:615381
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... OMIM:212140
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ketotic hypoglycemia, Cardiomyopathy ORPHA:26792
Preeclampsia
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Type I diabetes me... ORPHA:275555
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... ORPHA:2849
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Elevated hepatic transaminase, Neonatal hyp... OMIM:212138
Partington Syndrome
Macroorchidism ORPHA:94083
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology ORPHA:3188
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension OMIM:189800
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Hyperinsul... ORPHA:263455
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Cryptorchidism DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Insulinoma
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... ORPHA:97279
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Impaired gl... OMIM:617253
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Trimethylaminuria
Hypertension, Splenomegaly, Tachycardia OMIM:602079
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hypertension, Hepatomegaly, Tachycardia OMIM:121300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Elevated hepatic transaminase, Elevated circulating creatine kinase concen... ORPHA:42
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Ventricular arrhythmia, Supraventr... ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Ventricular hypertrophy, Hepatic failure, Elevated hepatic transaminase... ORPHA:228305
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Dilated cardiomyopathy, Hepatic steatosis, Hypertroph... OMIM:231530
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega... OMIM:618234
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:616829
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Bardet-Biedl Syndrome 19
Ventricular septal defect, Hypogonadism, Atrial septal defect, Hepatic steatosis, Hypoplastic lef... OMIM:615996
Amyloidosis, Familial Visceral
Hypertension, Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... OMIM:613327
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Hep... ORPHA:79319
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... OMIM:616033
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... OMIM:540000
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function OMIM:617093
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, A... ORPHA:225
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... OMIM:614921
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Familial Cervical Artery Dissection
Abnormality of connective tissue, Cerebral ischemia, Transient ischemic attack, Hypertension, Dia... ORPHA:36382
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Atypical s... ORPHA:791
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hypergl... OMIM:246200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... OMIM:261680
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Polycystic ovari... ORPHA:3085
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypoglycemia, Hypertension, Adrenal hyperplasia OMIM:201910
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Polycystic Kidney Disease 5
Enlarged kidney, Hypertension, Hepatosplenomegaly OMIM:617610
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Dilated cardiomyopathy... ORPHA:71212
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... OMIM:264470
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, D... OMIM:615830
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Transient ischemic attack, Lacunar stroke, Hypertension OMIM:616779
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase ORPHA:329249
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Hypertension, Abnormal mitral valve morphology, Cryptorchidism ORPHA:1192
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Paragangliomas 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Coach Syndrome 2
Hepatic fibrosis, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Congenital hepati... OMIM:619111
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Hypertension, Lef... OMIM:102200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcin... ORPHA:370
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Type I diabetes mellitus, Hypertension ORPHA:181
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:614582
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Abnormal heart morpholo... ORPHA:70472
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... OMIM:611126
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Nonketotic hypoglycemia, Elevated hepatic transamina... ORPHA:99901
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... ORPHA:1227
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... ORPHA:293964
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... OMIM:261750
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Polyembryoma
Macroorchidism, Abnormality of the peritoneum, Isosexual precocious puberty ORPHA:180229
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Increased circulating gonadotropin level, Hypospadias,... ORPHA:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... ORPHA:563
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Ventricular septal defect, Hypertension, Arrhythmia OMIM:617021
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Hypertension, Adre... OMIM:103900
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Porta... OMIM:614300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... OMIM:278000
Galactokinase Deficiency
Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatomegaly ORPHA:79237
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Glucose intolerance, Elevated hepatic transaminase, Hepatocellular car... OMIM:235200
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Mandibuloacral Dysplasia
Hyperinsulinemia, Contractures of the large joints, Glucose intolerance, Insulin resistance, Incr... ORPHA:2457
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... OMIM:615363
Nephronophthisis 18
Hypertension, Cholestasis, Portal fibrosis OMIM:615862
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased testicular size, Azoospermia, Male hypogo... ORPHA:52901
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice ORPHA:3111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Elev... ORPHA:264580
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depr... ORPHA:90065
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovar... ORPHA:2298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Impaired glucose toleranc... OMIM:248370
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Decreased serum estradiol, Neoplasm of the pancreas, Supraventricula... ORPHA:2959
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Mitral regurgitation, Hypertension OMIM:173900
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Cardiomyopathy, Diffuse hepatic steatosis, Left ventricular hypertrophy... ORPHA:746
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Hypertension OMIM:600666
Overlap Myositis
Pulmonary arterial hypertension, Abnormality of connective tissue, Raynaud phenomenon, Elevated h... ORPHA:206572
Stiff Skin Syndrome
Lipoatrophy, Hypertension, Type II diabetes mellitus ORPHA:2833
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Increased urinary cortisol level, Increased circul... ORPHA:1501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Dysbetalipoproteinemia
Hypothyroidism, Angina pectoris, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Hepato... ORPHA:412
Porphyria Cutanea Tarda
Periportal fibrosis, Corneal scarring, Scarring, Hepatocellular carcinoma, Portal inflammation, E... ORPHA:101330
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Very long chain fatty acid accumulation, Chro... ORPHA:98908
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegaly ORPHA:615
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Type II diabetes mellitus, Intracranial hemor... ORPHA:31825
Pediatric-Onset Graves Disease
Sinus tachycardia, Jaundice, Increased circulating T4 concentration, Elevated hepatic transaminas... ORPHA:525731
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration, Congestive heart failure, ... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating... OMIM:617713
Non-Functioning Pituitary Adenoma
Female hypogonadism, Macroorchidism, Decreased response to growth hormone stimulation test, Hypog... ORPHA:91349
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Multiple lipomas, Increased adipose tissue, Hypertension, Congestive heart failure, Dilated cardi... ORPHA:1349
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Abnormal testi... ORPHA:562
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... OMIM:610475
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Antenatal intracerebral hemorrhage, Elevated circulating alanine aminot... OMIM:608836
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener... OMIM:608612
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Jaundice, Adrenal hyperplasia, Male pse... ORPHA:90790
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diab... ORPHA:444490
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Congenitally Uncorrected Transposition Of The Great Arteries
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... ORPHA:860
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Mitral valve prolapse, Hypospadias OMIM:618874
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse, Hepatic steatosis, Inguinal hernia, Myocardial infarction, Pancreatitis OMIM:236200
Glycogen Storage Disease Ib
Splenomegaly, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypertens... OMIM:232220
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... ORPHA:348
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hepatic failure, Heart block, Hepatic steatosis, Elevated circulating c... ORPHA:228308
Rhabdoid Tumor
Neoplasm of the liver, Hypertension, Internal hemorrhage ORPHA:69077
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hypertension, Hematemes... OMIM:263200
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Pericardial effusion, Elevated hepatic transaminase, Hypertensi... OMIM:619487
Extracranial Carotid Artery Aneurysm
Abnormality of connective tissue, Cerebral ischemia, Arteritis, Hypertension, Diabetes mellitus, ... ORPHA:494424
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hypertension, Diffuse alve... OMIM:614034
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Splenomegaly, Cerebral hemorrhage OMIM:133100
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... ORPHA:251274
Wilson Disease
Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, A... ORPHA:905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Hepatic steatosis, Diabetes mellit... OMIM:616263
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Nodular goiter, Mi... ORPHA:371428
Cirrhosis, Familial
Pulmonary arterial hypertension, Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Hyp... OMIM:215600
Glycogen Storage Disease Ia
Enlarged kidney, Elevated hepatic transaminase, Hypertension, Hepatocellular carcinoma, Hypoglyce... OMIM:232200
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Alagille Syndrome 2
Hypertension, Atrial septal defect, Cholestasis, Cholestatic liver disease, Tetralogy of Fallot, ... OMIM:610205
Congenital Hypothyroidism
Hypotension, Abnormal pericardium morphology, Hypothyroidism, Hypogonadism, Anterior hypopituitar... ORPHA:442
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Ischemic stroke, Cerebral hemorrhage, Decr... ORPHA:280679
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Epistaxis, Common atrium, Hematochezia, Pulmonic stenosis ORPHA:96168
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypertension, Adr... ORPHA:404
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ventricular septal defect, Atrial septal defect OMIM:309520
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Ventricular septal defect, Atrial septal defect, Hepatic stea... ORPHA:254346
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Ven... ORPHA:769
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance OMIM:617885
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a... ORPHA:403
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Takayasu Arteritis
Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio... ORPHA:3287
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Hypertension OMIM:618061
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Cardiomy... ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly, Cardiomyopathy OMIM:614922
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato... ORPHA:2137
Dpm1-Cdg
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Hepatos... ORPHA:79322
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hypertension, Dextrocardia, Situs inversus totalis, Hepatomegaly, Hepatic cysts OMIM:613095
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Glutaric Aciduria Iii
Hyperthyroidism, Hypertension, Goiter OMIM:231690
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Hepatic steatosis, Female pseudohermaph... ORPHA:91
Polycythemia Vera
Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypertension, Epistaxis, Portal v... ORPHA:729
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Giant cell hepatitis... ORPHA:79303
Werner Syndrome
Abnormal testis morphology, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin r... ORPHA:902
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... ORPHA:369929
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Increased intr... ORPHA:98907
Nephroblastoma
Neoplasm of the liver, Hypertension ORPHA:654
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypersplenism, Hypertension, Epistaxis, Mitral regurgitation, He... OMIM:230800
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Bilateral cryptorchidism, Elevated hepatic tran... ORPHA:66634
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Elevated jugular venous pressure, Cholangiocarcinoma, Hepatocellular c... ORPHA:465508
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Atrophic scars, Hypertension OMIM:182410
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis OMIM:231680
Congenital Toxoplasmosis
Cardiomegaly, Jaundice, Elevated hepatic transaminase, Hepatomegaly ORPHA:858
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Elevated hepatic transaminase, Hy... OMIM:216360
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Hypertension, Diabetes mellitus, Abnormality of the thyroid gland, Abnormality of... ORPHA:77296
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Bardet-Biedl Syndrome
Hepatic fibrosis, Hypogonadism, Hypertension, Hypoplasia of the ovary, Cryptorchidism ORPHA:110
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, Atrial septal defect OMIM:613355
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hypoglycemia, Bile duct proliferation... OMIM:618329
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... ORPHA:57777
Atypical Werner Syndrome
Abnormal testis morphology, Hepatic steatosis, Neoplasm of the thyroid gland, Aortic valve calcif... ORPHA:79474
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Sickle Cell Disease
Splenic infarction, Jaundice, Hypertension, Hepatomegaly, Cholelithiasis, Cardiomegaly, Splenomegaly OMIM:603903
Paroxysmal Hemicrania
Diabetes mellitus, Hypertension ORPHA:157835
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Increased circulating cortisol level, Hypertension, Pheochromocytoma, Elevat... OMIM:171400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... ORPHA:93111
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... OMIM:613070
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Ventricular septal defect, Polysplenia, Macronodular... OMIM:619418
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Enlarged kidney, Mitral valve prolapse, Hypertension, Polycystic liver disease,... ORPHA:730
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615595
Immunodeficiency 47
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... OMIM:300972
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Flexion contracture, Congestive heart failure, Neonatal hypoglycemia OMIM:616271
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Reduced subcutaneous adipose tissue... ORPHA:508
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Precocious puberty,... ORPHA:90795
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Fabry Disease
Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, Angina pectori... OMIM:301500
Cimdag Syndrome
Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis OMIM:619273
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Abnormal EKG, Syncope, Insulin resistance, Hypoglycemia, Orthostatic hypotensio... ORPHA:230
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Diffuse hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased liver... ORPHA:436271
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Impaired glucose tolerance, Glucose intolerance, Elevated hepatic trans... OMIM:610131
Pituitary Apoplexy
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... ORPHA:95613
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Cardiac arrest, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase, Di... ORPHA:20
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint contracture, Hyperten... OMIM:613870
Porphyria Variegata
Abnormality of the liver, Scarring, Elevated hepatic transaminase, Hepatocellular carcinoma, Hype... ORPHA:79473
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Decreased thyr... ORPHA:90674
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... OMIM:617156
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... ORPHA:231580
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Lipoatrophy, Pulmonary carcinoid tumor, Intracranial hemorrhage, Congest... ORPHA:363618
Pearson Syndrome
Hypothyroidism, Hepatic failure, Abnormality of the liver, Decreased response to growth hormone s... ORPHA:699
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... OMIM:605373
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Increased circulating ACTH level, Pituitary adenoma, Hypertension, Gl... OMIM:219090
C3 Glomerulopathy
Lipodystrophy, Hypertension ORPHA:329918
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Hypertension, Adrenal hyperplasia OMIM:613677
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... OMIM:168000
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Rayn... ORPHA:247691
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Enlarged kidney, Pulmonary venous hypertension, Thyroiditis, Hepatocellular carci... ORPHA:79259
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Type II diabetes mellitus OMIM:618620
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Hypertension OMIM:166300
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... OMIM:212065
Von Hippel-Lindau Disease
Pancreatic cysts, Paraganglioma, Pancreatic endocrine tumor, Elevated circulating catecholamine l... ORPHA:892
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... ORPHA:103918
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Hypertension OMIM:617027
Alagille Syndrome
Ventricular septal defect, Hypertension, Atrial septal defect, Reduced number of intrahepatic bil... ORPHA:52
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis, Hypertension OMIM:613159
Citrullinemia Type Ii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hep... ORPHA:247585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogo... ORPHA:298
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Insulin resi... OMIM:209900
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Hypertension, Pheochromocytoma, Hepatic hemangioma, P... OMIM:193300
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Type II diabetes mellitus, Hypertension, Myocardial infarction, Hypergl... OMIM:615812
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Recurrent pancreatitis, Impaired glucose tolerance, Reduced subc... OMIM:606721
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Raynaud phenomenon, Ischemic stroke OMIM:615750
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Raynaud phenomenon, Elevated hepatic transaminase, Hypertension, Dilated cardiomyopathy, Hepatosp... OMIM:615688
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Decreased circu... OMIM:615474
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypertension, Hypogonadism ORPHA:97229
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Jaundice, Spleni... ORPHA:400
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, T-wave inversion, Cardiogenic shock, Prominent ... ORPHA:466677
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinom... OMIM:232240
Interstitial Lung And Liver Disease
Hypothyroidism, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ci... OMIM:615486
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased intramyocellular lipid droplets, Hypertrophic cardiomyopathy, Hepatomegaly,... OMIM:220110
Carney Complex
Leydig cell neoplasia, Increased circulating prolactin concentration, Precocious puberty, Macroor... ORPHA:1359
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Gaisböck Syndrome
Hypovolemia, Angina pectoris, Hypertension, Increased circulating renin level, Myocardial infarct... ORPHA:90041
Hardikar Syndrome
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... OMIM:301068
Frasier Syndrome
Decreased serum estradiol, Hypertension, Increased circulating gonadotropin level, Hypergonadotro... ORPHA:347
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Systolic heart murmur, Peritonitis, Elevated hepatic transaminase, P... OMIM:619991
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension OMIM:605635
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... ORPHA:231632
Multiple Endocrine Neoplasia Type 1