Gene Summary

Name:
follistatin-like 3
Synonyms:
Flrg,  E030038F23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged testis Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal liver morphology Fstl3tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
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 Not available
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 Not available
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 Not available
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

7 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
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Lipoat... ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovari... ORPHA:280356
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Loss ... OMIM:604367
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Ethanolaminosis
Cardiomegaly OMIM:227150
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Materna... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Congestive heart failure, Myocardial infarction, Hypertens... OMIM:615703
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Amb... OMIM:615542
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin leve... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Type I diabetes mellitus, Excessive insulin response... ORPHA:276575
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopat... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hypoglycemia, Materna... ORPHA:324575
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Insulin resistance, Elevated circulating creatine kinase concen... OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Splenomegaly, Hepatomeg... OMIM:612526
Hemochromatosis, Type 4
Hepatic steatosis, Arrhythmia, Hepatomegaly, Cardiomyopathy, Diabetes mellitus, Cirrhosis, Glucos... OMIM:606069
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Loss ... OMIM:151660
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Con... OMIM:619048
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Congestive heart failur... ORPHA:90970
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertension, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hyper... ORPHA:276556
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:79086
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Hyperinsulinemia, Delayed puberty, C... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Hyperinsulinemia, Delayed puberty, C... ORPHA:71526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Familial Male-Limited Precocious Puberty
Oligospermia, Precocious puberty, Macroorchidism, Long penis ORPHA:3000
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Loss of gluteal subcuta... ORPHA:435660
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension, Diabetes mellitus, Glucose intolerance... OMIM:610947
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Congestive heart failure, Endocardial ... OMIM:212140
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransfe... OMIM:619386
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hepatomegaly, Insulin-r... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Polycystic ovaries, Loss of gluteal subcutaneous adipose tissue... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Congestive heart failure, Hypertrophic... ORPHA:79083
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hepatic failure, Hypoglycemia, Hepatomegaly, Hy... OMIM:617872
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Insulin resistance, Polycystic o... ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Elevated circulating creatine kina... OMIM:600649
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Patent Ductus Venosus
Hepatic steatosis, Congenital portosystemic venous shunt, Decreased liver function, Persistent pa... OMIM:601466
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Preeclampsia
Elevated systolic blood pressure, Polycystic ovaries, Elevated diastolic blood pressure, Abnormal... ORPHA:275555
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Congestive ... ORPHA:2348
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:618234
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Ing... ORPHA:2849
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Cryptorchidism, Hepato... OMIM:615381
Partington Syndrome
Macroorchidism ORPHA:94083
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Premature ventricular c... OMIM:212138
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Elevated ... OMIM:617156
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology ORPHA:3188
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Preeclampsia/Eclampsia 1
Hypertension, Elevated hepatic transaminase OMIM:189800
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
8p23.1 deletion syndrome
Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Hypertension, Tachycardia OMIM:121300
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsuli... ORPHA:369873
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension OMIM:602079
Cirrhosis, Familial
Pulmonary arterial hypertension, Micronodular cirrhosis, Hypertension, Jaundice OMIM:215600
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Reduced systolic function, Elevated circulating alanin... OMIM:618805
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Increased hepatic glyc... ORPHA:263455
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Distal arthrogryposis, Arrhythmia, Decreased liver function, Hep... ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Nonketotic hypoglycemia, Hyper... OMIM:201475
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Decreased adiponectin level, Diabetes mellitus, Pancreatitis, Congestiv... ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Arrhythmia, Hepatomegaly, Elevated circulating creatine kinas... ORPHA:228305
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemic seizures, Hypertrophic cardiomyopathy, He... OMIM:231530
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Decreased liver function, Pulmonic stenosis... OMIM:614300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase ... OMIM:617253
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Amyloidosis, Familial Visceral
Hypertension, Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Cardiac myxoma, Pigmented micronodular adrenocortical disease, Testicular neop... ORPHA:189439
Mpi-Cdg
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepat... ORPHA:79319
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Reduc... OMIM:608594
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension ORPHA:1879
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Lipodystrophy, Congenital Generalized, Type 2
Ventricular septal hypertrophy, Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Polycystic ... OMIM:269700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy, Hypertension, Type II diabetes... ORPHA:225
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Senior-Loken Syndrome
Premature ovarian insufficiency, Congenital hepatic fibrosis, Hypertension ORPHA:3156
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Mody
Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Hype... ORPHA:552
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperglyc... OMIM:246200
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransf... OMIM:614921
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Hypertension OMIM:201910
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morpholog... ORPHA:791
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Hypoglycemia, Periportal fibrosis, Splen... OMIM:251880
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Type II diabetes mellitus, Hypergo... ORPHA:3085
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testicular size, Decrease... ORPHA:179494
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Hypertension, Diabetes mellitus, Adrenal hyperpl... OMIM:615830
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated hepatic transaminase, Hypertension, Hepati... OMIM:619111
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia OMIM:602579
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypoglycemic seizures, Neonatal hypoglycemia, Hypertro... ORPHA:71212
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Abnormal mitral valve morphology, Hypertension, Type I diabetes mellitus ORPHA:1192
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypertension ORPHA:181
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Congestive heart failure, Cryptorchidis... OMIM:610198
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Ventricular septal hypertrophy, Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Polycystic ... ORPHA:370
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Ele... OMIM:102200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Fasting hypoglycemia, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Rowley-Rosenberg Syndrome
Reduced subcutaneous adipose tissue, Pulmonary arterial hypertension, Hypertension, Right ventric... OMIM:268500
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hepatic failure, Hypoglycemia, Congesti... OMIM:611126
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Patent foramen ov... OMIM:614582
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Prolonged ne... OMIM:256810
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased liver functio... ORPHA:70472
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase ORPHA:300536
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Polycystic ovaries, Hyperinsulinemia, Abnormality ... ORPHA:1227
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Nonketotic hypoglycemia, Congestive heart failure, Cer... ORPHA:99901
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Abnormal heart morphology, Transient neonatal diabetes mel... ORPHA:99886
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Increased circ... ORPHA:8
Hemochromatosis, Type 1
Cardiomegaly, Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Telangiectasia... OMIM:235200
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Hepatic failure, Portal hypertension, Hepatosplenomegal... OMIM:278000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Premature ovarian insufficiency... ORPHA:79237
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adre... OMIM:103900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Arrhythmia, Decreased liver function OMIM:617021
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Polyembryoma
Macroorchidism, Abnormality of the peritoneum, Isosexual precocious puberty ORPHA:180229
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Decreased liver function OMIM:600666
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension, Hepatic cysts, Mitral valve prolapse OMIM:173900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Polycystic ovaries, Delayed p... ORPHA:264580
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Contractures... ORPHA:2457
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Biliary cirrhosis, Abnormal salivary gland morphology, Fasting... ORPHA:2298
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Delayed puberty, Decreased serum testosterone con... ORPHA:2959
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Panhypopituitarism, Anterior hypopituitarism, Ovarian cyst, Adrenocor... ORPHA:91348
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Left ventricular hypertrophy, Congestive heart failure, Hypopituitarism, Cerebral... ORPHA:90065
Overlap Myositis
Pulmonary arterial hypertension, Abnormal heart morphology, Elevated circulating creatine kinase ... ORPHA:206572
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Increased urinary ... ORPHA:1501
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Cholestasis, Congestive heart failure, Tricuspid regurgitation, Hypoparathyroidism, C... ORPHA:746
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Cardiomyopathy, Congestive... ORPHA:52430
Stiff Skin Syndrome
Hypertension, Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Pulmonary embo... ORPHA:444490
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Delayed puberty, Hepatomegaly, Diabetes m... OMIM:616263
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Corneal scarring, Periportal fibrosis, Chronic hepatitis, Por... ORPHA:101330
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ty... ORPHA:31825
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Decreased adipose tissue ar... OMIM:608612
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Hypertension, Hepatic cysts, Situs inversus totalis OMIM:613095
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus, Angina pe... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy,... OMIM:617713
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Sinus tachycardia, Increased c... ORPHA:525731
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Glucocorticoid Resistance, Generalized
Hypoglycemia, Hypertension OMIM:615962
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Familial Cervical Artery Dissection
Transient ischemic attack, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage, Abnormality ... ORPHA:36382
Non-Functioning Pituitary Adenoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Female hypog... ORPHA:91349
Mccune-Albright Syndrome
Cholestasis, Goiter, Elevated circulating growth hormone concentration, Increased circulating pro... ORPHA:562
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Maternal diabetes, Right ventricular hypertrop... ORPHA:860
Rhabdoid Tumor
Hypertension, Neoplasm of the liver, Internal hemorrhage ORPHA:69077
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Hypergly... OMIM:220111
Heme Oxygenase 1 Deficiency
Elevated circulating alanine aminotransferase concentration, Diffuse alveolar hemorrhage, Elevate... OMIM:614034
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Left ventricular ... OMIM:619487
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts OMIM:618061
46,Xy Sex Reversal 10
Micropenis, Gonadoblastoma, Sex reversal, Ambiguous genitalia, Dysgerminoma, Decreased testicular... OMIM:616425
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Congestive heart failure, Cholecystitis, Hepatomegaly, Chronic pa... ORPHA:98908
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Multiple lipomas, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:1349
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Eleva... ORPHA:348
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormality of female external genitalia, Jaundice, Male pseudohermaphroditism, Macroorchidism, E... ORPHA:90790
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Myocardial infarction, Inguinal hernia, Pancreatitis, Mitral valve prolapse OMIM:236200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Hepatic failure, Cardiomegaly, Arrhythmia, Hep... ORPHA:228308
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, En... ORPHA:785
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteritis, Vasculitis, Hypertension, Diabetes mellitus, ... ORPHA:494424
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Splenomegaly, Hypertension, Myocardial infarction OMIM:133100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Alagille Syndrome 2
Tetralogy of Fallot, Cholestasis, Atrial septal defect, Pulmonic stenosis, Hypertension, Cholesta... OMIM:610205
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hypoglycemia, Elevated circulating alanine aminotransfer... OMIM:608836
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Insulin resistance, Pulmonic stenosis, Common atrium, Epistaxis ORPHA:96168
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT interval, Hypertension, Adren... ORPHA:251274
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Delayed puberty, Hypergonadotropic hypogonadism, Hypertension, Cerebral h... ORPHA:280679
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Diabetes mellitus, Elevated ... ORPHA:541423
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Arrhythmia, Abnormality of the thyroid gland, Th... ORPHA:442
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Glycogen Storage Disease Ia
Enlarged kidney, Hypoglycemia, Hepatomegaly, Hypertension, Elevated hepatic transaminase, Pancrea... OMIM:232200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Atrial septal defect, Double outlet right ventricle, Mitral valve prolapse, O... ORPHA:371428
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... OMIM:115197
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:404
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:403
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Cardiomyopathy, Hepatomegaly, Decreased liver function OMIM:614922
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperinsulinemia, Increased facial adipose tissue, Reduced su... OMIM:248370
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Aortic regurgitation, Arrhythmia, Cryptorchidism, Atrial septa... ORPHA:254346
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, My... ORPHA:3287
Aromatase Deficiency
Hepatic steatosis, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Macr... ORPHA:91
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Glycogen Storage Disease Ib
Enlarged kidney, Hypoglycemia, Hepatomegaly, Hypertension, Elevated hepatic transaminase, Pancrea... OMIM:232220
Nephroblastoma
Hypertension, Neoplasm of the liver ORPHA:654
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Diabetes mellitus, Ce... ORPHA:136
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Hypothyroidism, Portal hypertension, Elevated jugular venous pressure, Arrhythmia, ... ORPHA:465508
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neonatal hypoglycemia, Hypothyroidism, Cardiomyopathy, Elevated hepatic transa... ORPHA:445038
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Glutaric Aciduria Iii
Goiter, Hyperthyroidism, Hypertension OMIM:231690
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hypertension, Cardiomegaly OMIM:603903
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Hepatomegaly, Hypergonadotropic hypogonad... OMIM:212065
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice OMIM:231680
Gaucher Disease, Type I
Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Hypertension, Mitral regurgitation, ... OMIM:230800
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Supravalvula... ORPHA:439232
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Splenomegaly, Hepatomegaly,... ORPHA:729
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Hypertension, Elevated hepatic transaminase, Int... OMIM:216360
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Knee flexion contracture, Elevated circulati... ORPHA:79322
Bardet-Biedl Syndrome
Cryptorchidism, Hypertension, Hepatic fibrosis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Elev... ORPHA:90793
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Polycystic liver disease, Hypertension, Mitral valve prolapse,... ORPHA:730
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Insulin resistance, Abnormality of the ovary, Hypertension, Biliary... OMIM:209900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Hyperaldosteronism, Pulmonary arterial hypertension, Hypert... ORPHA:369929
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the thyroid gland, Hypertension, Diabetes mellitus, Abnormality of... ORPHA:77296
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Neonatal hypoglycemia, Hypothyroidism, ... ORPHA:66634
Sneddon Syndrome
Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Ischemic stroke, Atrophic scars OMIM:182410
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Abnormal circulat... ORPHA:98907
Congenital Toxoplasmosis
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly, Jaundice ORPHA:858
Atypical Werner Syndrome
Glycosuria, Telangiectasia of the skin, Chondrocalcinosis, Hypertension, Diabetes mellitus, Aorti... ORPHA:79474
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve OMIM:613355
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidi... ORPHA:508
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Von Hippel-Lindau Syndrome
Paraganglioma, Abnormality of the liver, Pancreatic cysts, Pheochromocytoma, Hypertension, Neopla... OMIM:193300
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Parathyroid adenoma, Pheochromocytoma, H... OMIM:171400
Glycogen Storage Disease Ic
Spider hemangioma, Hepatoblastoma, Hypoglycemia, Hepatomegaly, Chronic pancreatitis, Pulmonary ar... OMIM:232240
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Hypoglyce... OMIM:619418
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Hypertension, Adrenal hyperplasia, De... OMIM:219080
Porphyria Variegata
Abnormality of the liver, Hypertension, Elevated hepatic transaminase, Tachycardia, Scarring, Hep... ORPHA:79473
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Hypertrophic cardiomyop... OMIM:124000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Polycystic ovaries, Test... ORPHA:90795
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Arrhythmia, Elevated circulating creatine kinase concentration, Elevate... OMIM:610131
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Pulmonary carcinoid tumor, Congestive heart failure, Ventricular hypertrop... ORPHA:363618
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Hypothyroidism, Jaundice, Diabete... ORPHA:93111
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hypopituitarism, Hypotension, Elevated circulating grow... ORPHA:95613
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Prolo... ORPHA:90674
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Beta-Ketothiolase Deficiency
Hypoglycemia, Hypotension, Hepatomegaly, Hypertension, Hyperglycemia ORPHA:134
Trisomy 20P
Cryptorchidism, Macroorchidism, Hypospadias ORPHA:261318
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hypertrophic cardiomyopathy, Decreased liver function, Hepatomegaly, Diffuse hepatic ... ORPHA:436271
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Compensated hypothyroidi... ORPHA:247691
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Hypertrophic cardiomyopathy, Decreased liver function, Ele... OMIM:618329
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Abnormal EKG, Orthos... ORPHA:230
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Nelson Syndrome
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Pituitary carcinoma, Di... ORPHA:199244
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Abnormality of the live... ORPHA:699
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypogonadism OMIM:619273
C3 Glomerulopathy
Lipodystrophy, Hypertension ORPHA:329918
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Decreased circulating renin ... ORPHA:231580
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Pituitary adenoma, Glucose intolerance, Impaired glucose tolerance, Increased circu... OMIM:219090
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Hypertension, Decreased circulating renin level OMIM:613677
Paragangliomas 1
Chemodectoma, Hypertension associated with pheochromocytoma, Glomus tympanicum paraganglioma, Ele... OMIM:168000
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Von Hippel-Lindau Disease
Paraganglioma, Pancreatic cysts, Abnormal left ventricular function, Arrhythmia, Myocarditis, Myo... ORPHA:892
Paragangliomas 3
Chemodectoma, Hypertension associated with pheochromocytoma, Elevated circulating catecholamine l... OMIM:605373
Alagille Syndrome
Cholestasis, Cryptorchidism, Atrial septal defect, Hepatomegaly, Reduced number of intrahepatic b... ORPHA:52
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Ventricular septal defect, Contractures of the interphalangea... OMIM:613870
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carc... ORPHA:247585
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hypoglycemia, Hypoglycemic seizures, Enlarged kidney, Polycystic ovaries, Hypo... ORPHA:79259
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Cardiac arrest, Nonketotic hypoglycemia, Recurrent hy... ORPHA:20
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Nephronophthisis-Like Nephropathy 1
Hypertension, Pancreatic cysts, Chronic pancreatitis OMIM:613159
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Orthostatic hypotension, Recurrent pancreatitis, Insulin resistance, Decreased adi... OMIM:606721
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Hashimoto thyroiditis, Splenomeg... OMIM:615688
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypertension, Hematemesis, Ve... OMIM:301068
Riboflavin Transporter Deficiency
Hypertension, Diabetes insipidus, Hypogonadism ORPHA:97229
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase ORPHA:71
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Werner Syndrome
Lipodystrophy, Insulin resistance, Congestive heart failure, Aplasia/Hypoplasia of the testes, My... ORPHA:902
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, C... ORPHA:298
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Hepatomeg... ORPHA:400
Frasier Syndrome
Decreased serum estradiol, Hypertension, Increased circulating gonadotropin level, Hypergonadotro... ORPHA:347
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal... ORPHA:786
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Premature ventricular contraction, Arrhythmia, Congestive heart f... ORPHA:466677
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Myocardial steatosis, Jaundice OMIM:228100
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Hypertrophic cardiomyopathy, Decreased liver... OMIM:220110
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hypertension ORPHA:2169
Fanconi Renotubular Syndrome 5
Glycosuria, Hypertension OMIM:618913
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Intestinal carcinoid, Abnormal circulating aldosterone, Pul... ORPHA:652
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Ganglioneuroma
Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hypertension, Gastrointestinal ... ORPHA:251992
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Type II diabetes mellitus OMIM:618620
Gaisböck Syndrome
Hypovolemia, Increased circulating renin level, Elevated diastolic blood pressure, Cholecystitis,... ORPHA:90041
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Gastrointestinal hemorrhage, Congestive heart failure, Decreased liver functi... ORPHA:85450
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Neoplasm of the adrenal gland, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231625
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Carney Complex
Cardiac myxoma, Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, ... ORPHA:1359
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Flexion contracture, Congestive heart failure, Atrial septal defect, Hypertrophi... OMIM:617303
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Paradox