Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cytochrome p450 oxidoreductase
Synonyms:
CPR,  NADH cytochrome P450 oxydoreductase,  4933424M13Rik,  CYPOR

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Por 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.

The table below shows human diseases associated to Por by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Adrenal hyperplasia, Oligozo... ORPHA:95699
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Azoosp... OMIM:615703
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... OMIM:618901
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... OMIM:610489
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Premature adrenarche, Lon... ORPHA:90795
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Oligomenorrhea, Hypertriglyceridemia, Abno... ORPHA:280356
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle... ORPHA:91348
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:617872
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid... OMIM:232700
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ovarian Fibrothecoma
Increased serum testosterone level, Peritonitis, Metrorrhagia, Abnormal circulating hormone conce... ORPHA:314478
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hep... OMIM:615238
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... OMIM:618400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity, Increased... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Primary amenorrhea, Hyperchole... OMIM:612526
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Male sexual dysfunction, Abnormal circulating est... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic ste... OMIM:615996
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Abnormal circulat... ORPHA:2298
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Abnorma... ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... OMIM:619386
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Hyperaldoste... ORPHA:1501
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Mccune-Albright Syndrome
Renal phosphate wasting, Irregular menstruation, Precocious puberty, Increased circulating cortis... ORPHA:562
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Obesity And Hypopigmentation
Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Verheij Syndrome
Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Truncus arterios... OMIM:615583
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepat... OMIM:606069
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Fail... OMIM:620357
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
47,Xyy Syndrome
Azoospermia, Increased serum testosterone level, Oligozoospermia, Increased circulating gonadotro... ORPHA:8
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level, Primary amenorrhea ORPHA:247768
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... OMIM:608709
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Increased le... ORPHA:26792
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Abnormality of the liver, Decr... ORPHA:79320
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrh... ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... OMIM:604367
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Male infertility, Reduced... OMIM:619044
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac... OMIM:212140
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero... OMIM:278000
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating... OMIM:615980
Rabson-Mendenhall Syndrome
Precocious puberty, Nephrocalcinosis, Long penis, Cardiomyopathy, Insulin-resistant diabetes mell... ORPHA:769
Congenital Generalized Lipodystrophy
Precocious puberty in females, Failure to thrive, Hypertrophic cardiomyopathy, Hyperinsulinemia, ... ORPHA:528
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:79084
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus art... OMIM:300049
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrh... ORPHA:435651
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Myoglobinuria, Cirrhosis, He... ORPHA:264580
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated cir... ORPHA:435660
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... OMIM:620103
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function OMIM:601466
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyperammonemia, ... OMIM:600649
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... OMIM:614582
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere... ORPHA:449285
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Patent foramen ovale, Hypothyroidism, Atrial septal defec... OMIM:610883
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Skeletal muscle atrophy, Subdural hemorrhage, Overlapping fingers, Multiple joint... OMIM:618291
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic steatosis, Hyperuricemi... ORPHA:79083
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Pancrea... OMIM:618805
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Branchial cyst, Finger syndactyly, Knee flexion contracture, Pulmonary... ORPHA:435938
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... ORPHA:228305
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... ORPHA:280679
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hypertension, Postaxial polydactyly, Hydrocephalus, Men... OMIM:614424
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomeno... OMIM:300845
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterolemia, Bicuspid ... OMIM:618156
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased body mass index, Elevated circulating hepa... ORPHA:247585
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Atri... OMIM:608776
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... OMIM:201475
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atelectasis, Atrial situs ambiguous, Abnormal heart ... ORPHA:244
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retar... ORPHA:453499
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,... ORPHA:189427
Branchiogenic-Deafness Syndrome
Short stature, Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Urogenital sinus anoma... ORPHA:261529
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, ... ORPHA:261330
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine... ORPHA:247598
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Ame... ORPHA:465508
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatomegaly ORPHA:363400
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Elevated circulating aspart... OMIM:610198
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... ORPHA:53693
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Failure to thrive, Elevated circulating crea... OMIM:619518
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopat... ORPHA:70472
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... ORPHA:228308
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, Pancreatitis, Hypertr... ORPHA:2348
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a... ORPHA:91387
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... ORPHA:412
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, El... OMIM:615381
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive, Pulmonary hypoplasia OMIM:614096
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Azoospermia,... OMIM:614897
Acquired Partial Lipodystrophy
Proteinuria, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Fetal Gaucher Disease
Neonatal death, Stillbirth, Intracranial hemorrhage, Hydrops fetalis, Arthrogryposis multiplex co... ORPHA:85212
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Failure to thrive, Megacystis ORPHA:977
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Absen... OMIM:273250
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorr... OMIM:617397
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Short stature, Osteolytic defe... ORPHA:50815
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal aortic morphol... ORPHA:2162
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia ORPHA:3033
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... OMIM:605911
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Congenital malformation of the ... ORPHA:3455
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163976
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Cardiomyopathy, Insulin-resistant diabetes mellitus, Hy... ORPHA:79086
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Short stature, Dehydration OMIM:606054
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Penile freckling, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, H... OMIM:203800
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t... ORPHA:163971
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Hyperprolinemia, Hyperalaninemia, Lacticaciduria, Elevated urinary 4-hydroxybutyr... OMIM:619003
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... OMIM:177850
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Lower limb muscle... ORPHA:90307
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Congenital diaphragmatic hernia, Pulmonary venous ... ORPHA:2260
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cystic hygroma, Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Retinal he... OMIM:620371
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Failure to... ORPHA:2088
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Macroglossia, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Tricuspid ... ORPHA:261337
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatic necrosis, Ful... OMIM:231530
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circul... OMIM:615486
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Tarp Syndrome
Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, Intrauterine growth retardation, Oligohyd... OMIM:311900
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Decreased serum testosterone concentration, Azoospermia, Hypothalamic ... OMIM:308700
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage ORPHA:98880
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Aromatase Deficiency
Female infertility, Obesity, Eunuchoid habitus, Hyperlipidemia, Hepatic steatosis, Type II diabet... ORPHA:91
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventri... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventri... ORPHA:352665
Hypophosphatasia, Infantile
Metaphyseal cupping, Disproportionate short-limb short stature, Micromelia, Stillbirth, Polyhydra... OMIM:241500
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Mirage Syndrome
Radial club hand, Intrauterine growth retardation, Overlapping fingers, Petechiae, Talipes equino... OMIM:617053
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hyperinsuli... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glycosuria, Elevated cir... OMIM:617253
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Menkes Disease
Metaphyseal spurs, Intrauterine growth retardation, Metaphyseal widening, Short stature, Intracra... OMIM:309400
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Ventricular septal defect, Short neck, S... ORPHA:508488
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Irregular menstruation... ORPHA:79259
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Hepatic steatosis, Cardiomyopathy, Elevated circulating cr... ORPHA:52430
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Ventricular septal defect, Hypoth... ORPHA:254346
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular se... ORPHA:163979
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Hypertrophic cardiomyopathy, Hepatic steatosis, Hypertriglyceridemia... ORPHA:280365
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal femur morphology, Pleural effusio... ORPHA:464329
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrull... OMIM:261680
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperinsulinemia, Hep... OMIM:613327
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Failure to thrive, Hepatic steatosis, Mitral valve prolapse, ... OMIM:236200
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Increased circulating dehydroepiandrosterone-sulfate concentration, In... OMIM:158330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in... OMIM:619418
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Bive... ORPHA:79324
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Edema, Intracranial hemorrhage, ... ORPHA:324636
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperinsulinemia, Hepati... OMIM:608594
Wiedemann-Rautenstrauch Syndrome
Long penis, Secundum atrial septal defect, Failure to thrive, Hypoplasia of the thymus, Increased... OMIM:264090
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormal circulating cre... ORPHA:98908
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Polyhydr... OMIM:615368
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema ORPHA:3226
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Branchiootic Syndrome
Facial palsy, Branchial fistula ORPHA:52429
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Branchiootorenal Syndrome 1
Facial palsy, Branchial fistula, Branchial cyst OMIM:113650
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Renal tubular ac... OMIM:614922
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... OMIM:619377
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Oligohydramnios, Fetal intraventricular hemorrhage, Limb hypertoni... OMIM:618480
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th... OMIM:210200
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver failure in inf... ORPHA:275761
49,Xxxyy Syndrome
Male hypogonadism, Decreased serum testosterone concentration, Eunuchoid habitus, Increased circu... ORPHA:261534
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Skeletal muscle... OMIM:620278
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ... ORPHA:445038
Monosomy 13Q34
Obesity, Hepatic steatosis, Metrorrhagia, Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial... ORPHA:536545
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... ORPHA:79282
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... OMIM:151660
Aspergillosis
Stroke, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Bannayan-Riley-Ruvalcaba Syndrome
Broad thumb, Arteriovenous malformation, Skeletal muscle atrophy, Lymphedema, Subcutaneous hemorr... ORPHA:109
Pearson Syndrome
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Abnorm... ORPHA:699
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Clinodactyly, Broad hallux, Intrauterine growth retardation, Polyhyd... OMIM:620186
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis,... OMIM:256810
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Intrauterine growth retarda... ORPHA:565
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g... OMIM:261750
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Growth delay, Intraventricular hemorr... ORPHA:79284
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopat... ORPHA:436271
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Limb muscle... OMIM:232300
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Failure to thrive, Ureteral ... ORPHA:2257
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myopathy, Subarachnoi... OMIM:185070
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion ORPHA:284227
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Chronic hepatic failure,... ORPHA:746
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Branchial anomaly, Prominent fingertip pads, Short palm ORPHA:466950
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Increased circulating gonadotropin l... ORPHA:755
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Primary ... OMIM:261515
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Hypo... OMIM:270400
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... OMIM:616263
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... ORPHA:2211
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... ORPHA:99827
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
49,Xyyyy Syndrome
Male hypogonadism, Decreased serum testosterone concentration, Azoospermia, Eunuchoid habitus, In... ORPHA:99330
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... ORPHA:348
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Osteogenesis Imperfecta
Aortic root aneurysm, Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Bowing of th... ORPHA:666
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Splenomegaly, Decrea... OMIM:201100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Hydranencephaly
Stiff neck, Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal caro... ORPHA:2177
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Elevated circulatin... OMIM:229600
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:244450
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopat... OMIM:220110
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Arachnoid Cyst
Lower limb muscle weakness, Encephalocele, Subarachnoid hemorrhage, Facial palsy, Hydrocephalus, ... ORPHA:2356
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal heart morphology... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bladder diverticulum, Increased circulating androgen concentration, Diabete... ORPHA:2976
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Sple... OMIM:617303
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614924
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:619573
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation... ORPHA:363958
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Mitral valv... OMIM:619472
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... ORPHA:340
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di... ORPHA:20
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Clubbing, Facial telangiectasia, Ce... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ... ORPHA:31150
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Glycosuria, Failure to thrive, Insulin-resista... ORPHA:79474
Bloom Syndrome
Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Decreased fertility in females, Elevat... OMIM:210900
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Bardet-Biedl Syndrome
Chronic kidney disease, Type II diabetes mellitus, Hepatic steatosis, Nephrotic syndrome, Irregul... ORPHA:110
Matthew-Wood Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Vesicoureteral reflux, Abnormal lung morph... ORPHA:2470
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal... ORPHA:90790
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Failure to thriv... ORPHA:17
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... OMIM:613406
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural... ORPHA:90324
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Pulmonic stenosis, Pulmonary h... ORPHA:139466
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis OMIM:619273
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail... OMIM:124000
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99226
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe kidney, Tetra... OMIM:601186
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transaminase concent... OMIM:619525
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... ORPHA:394
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Bran... OMIM:164210
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Talipes equinovarus, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Tapered finger OMIM:613603
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Hepatic ste... OMIM:615846
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:613658
Alström Syndrome
Chronic kidney disease, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsuline... ORPHA:64
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Urinary urgency OMIM:609195
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis OMIM:243700
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Intraventricular hemorrhage, Prolonged prothrombin time, Neonata... OMIM:619055
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microves... OMIM:618278
Osteogenesis Imperfecta, Type Xvii
Thin metacarpal cortices, Decreased muscle mass, Bowed humerus, Intraventricular hemorrhage, Shor... OMIM:616507
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased response ... ORPHA:3464
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Dpagt1-Cdg
Anasarca, Clinodactyly, Stroke-like episode, Intracranial hemorrhage, Arachnodactyly, Camptodacty... ORPHA:86309
Meacham Syndrome
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Congenital alveo... OMIM:608978
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Decreased serum testost... ORPHA:3044
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Postnatal growth retardation, ... OMIM:113620
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate... OMIM:615356
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:251510
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Micropenis, Azot... OMIM:619321