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Gene: Nadsyn1 MGI:1926164

Gene Summary

Name:

NAD synthetase 1

Synonyms:

9130012B15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
prolonged RR interval	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.40×10^-09
corneal opacity	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.48×10^-06
decreased pulmonary ventilation	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.50×10^-05
increased pulmonary ventilation	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.42×10^-05
decreased grip strength	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.08×10^-06
female infertility	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased heart rate	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.66×10^-07
prolonged ST segment	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.15×10^-05
corneal vascularization	Nadsyn1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.24×10^-08

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	50% (2 of 4)
Epididymis	Section images	heterozygote	50% (2 of 4)
Kidney	Wholemount images Section images	heterozygote	100% (4 of 4)
Vas deferens	Section images	heterozygote	50% (2 of 4)
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	0.0% (0 of 4)
Blood	N/A	heterozygote	0.0% (0 of 4)
Bone marrow	N/A	heterozygote	0.0% (0 of 4)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	50% (2 of 4)
Cerebellum	N/A	heterozygote	0.0% (0 of 4)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	50% (2 of 4)
Diaphragm	N/A	heterozygote	0.0% (0 of 4)
Duodenum	N/A	heterozygote	50% (2 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 4)
Harderian gland	N/A	heterozygote	0.0% (0 of 4)
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	50% (2 of 4)
Jejunum	N/A	heterozygote	50% (2 of 4)
Large intestine	N/A	heterozygote	50% (2 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 4)
Midbrain	N/A	heterozygote	0.0% (0 of 4)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 4)
Ovary	N/A	heterozygote	0.0% (0 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Parotid gland	N/A	heterozygote	0.0% (0 of 4)
Penis	N/A	heterozygote	0.0% (0 of 4)
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 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Quadriceps	N/A	heterozygote	0.0% (0 of 4)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	50% (2 of 4)
Spinal cord	N/A	heterozygote	0.0% (0 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	50% (2 of 4)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 4)
Submandibular gland	N/A	heterozygote	0.0% (0 of 4)
Testis	N/A	heterozygote	25% (1 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	25% (1 of 4)
Tongue	N/A	heterozygote	0.0% (0 of 4)
Trachea	N/A	heterozygote	0.0% (0 of 4)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 4)
Urinary bladder	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
Vagina	N/A	heterozygote	0.0% (0 of 4)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 4)
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	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Adult LacZ

LacZ Images Section

14 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

View images

Human diseases caused by Nadsyn1 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.

Human diseases associated with Nadsyn1 (1 diseases)
Human diseases predicted to be associated with Nadsyn1 (686 diseases)

The table below shows human diseases associated to Nadsyn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3			OMIM:618845

The table below shows human diseases predicted to be associated to Nadsyn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract, Sudden cardiac death, Arrhythmia	OMIM:212500
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Nathalie Syndrome	Cataract, Abnormal EKG	OMIM:255990
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio...	OMIM:618815
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
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
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno...	OMIM:617388
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Cardiomegaly, Bradycardia, ST segment elevation, Cardi...	OMIM:261740
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Corneal opacity	ORPHA:1980
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular escape rhythm, Arrhythmia, Prolonged P...	ORPHA:542306
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Left ventricular hypertrophy, Hepatic steatosis	OMIM:619048
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Angina pectoris, Corneal opacity, Splenomegaly	ORPHA:79292
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Sple...	OMIM:602390
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Galactosialidosis	Corneal opacity	ORPHA:351
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization	OMIM:615225
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
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
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Cataract	OMIM:609286
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctivitis sicca, Tela...	OMIM:278730
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Corneal opacity, Cardiomyopathy, Splenomegaly	ORPHA:93476
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Morquio Syndrome C	Corneal opacity	OMIM:252300
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Keratoconjunctivitis, Eosinophilia, Cataract, Opacification o...	OMIM:158310
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular con...	OMIM:212138
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Winchester Syndrome	Corneal opacity	OMIM:277950
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Pulmonary arterial hypertension, Atrioventricul...	OMIM:601005
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Hepatosplenomegaly	OMIM:232500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Hypertrophic card...	OMIM:618775
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi...	OMIM:615184
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Bradycardia	ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Ascites, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, ...	OMIM:613313
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Scorpion Envenomation	Myocarditis, Mydriasis, Congestive heart failure, Prominent U wave, Hypertension, Acute pancreati...	ORPHA:466677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Gray Platelet Syndrome	Thrombocytopenia, Epistaxis, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma	ORPHA:1473
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia	OMIM:121300
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa...	OMIM:310300
Acitretin/Etretinate Embryopathy	Antecubital pterygium, Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Corneal opacity, Ascites	ORPHA:87876
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Kid Syndrome	Corneal neovascularization, Corneal erosion, Limbal stem cell deficiency, Punctate keratitis, Ker...	ORPHA:477
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiom...	OMIM:235200
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Aspiration, Hypertension, Corneal scarring, Retinal hemorrhage, Tachycardia	OMIM:614653
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Opacification of the corneal stroma, Decreased fertility, Hypogonadotropic ...	ORPHA:1643
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasi...	ORPHA:290
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity, Abnormal abdomen morphology	OMIM:252650
Coronary Arterial Fistula	Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Elevated jugular venous pre...	ORPHA:2041
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Hepatomegaly, Microvesicular hepatic steatosis, Corneal scarring, Spl...	ORPHA:404454
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Pterygiu...	OMIM:618052
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Illum Syndrome	Bradycardia	OMIM:208155
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Muscular Dystrophy, Duchenne Type	Hypoventilation, Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Ab...	OMIM:310200
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Splenomegaly, Tachycardia,...	OMIM:613327
Congenital Sialidosis Type 2	Hepatomegaly, Corneal opacity, Ascites, Developmental cataract, Hepatosplenomegaly, Cataract, Abn...	ORPHA:93400
Pseudo-Torch Syndrome 2	Hepatomegaly, Bradycardia, Ascites, Thrombocytopenia, Cerebral hemorrhage	OMIM:617397
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Galactose Epimerase Deficiency	Cataract, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly, Hyperventilation	OMIM:229700
Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Aortic regurgitation	ORPHA:93474
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Encephalitis Lethargica	Hyperventilation, Bradycardia	ORPHA:83600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity...	OMIM:175780
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy	OMIM:617183
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle...	ORPHA:563
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia	ORPHA:226313
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Cardiomegaly, Third h...	ORPHA:1329
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Bradycardia	ORPHA:95716
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St...	OMIM:612310
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block	OMIM:616812
Alpha-Mannosidosis	Cataract, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:61
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Female infertility	OMIM:617442
Necrotizing Enterocolitis	Neutropenia, Bradycardia, Ascites, Hypotension, Leukocytosis, Thrombocytopenia, Peritonitis, Shock	ORPHA:391673
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Gitelman Syndrome	Neoplasm of the pancreas, Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Low-to...	ORPHA:358
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Bradycardia, Hypotension, Leukocytosis, Thrombocytopenia, Splenom...	ORPHA:90051
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Thromboc...	ORPHA:398124
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract	ORPHA:309288
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Cholelithiasis, Abnormality of the tonsi...	ORPHA:567
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Corneal opacity, Pulmonary arterial hypertension, Splenomegal...	OMIM:607015
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Biliary tract abnormality, Spleno...	ORPHA:79301
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular...	OMIM:613873
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Leukopenia, Diffuse alv...	ORPHA:99827
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity, Hypogonadism	ORPHA:281090
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness	OMIM:618175
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Jaundice, Prolo...	ORPHA:57777
Sheehan Syndrome	Amenorrhea, Orthostatic hypotension, Normochromic anemia, Bradycardia, Dyspareunia, Impotence, Ol...	ORPHA:91355
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Proximal Spinal Muscular Atrophy	Hypoventilation, Bradycardia	ORPHA:70
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Hepatitis, Thr...	ORPHA:905
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Left ventricular hypertrophy	OMIM:613153
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Perry Syndrome	Hypotension, Central hypoventilation	ORPHA:178509
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Hyphema, Shallow anterior chamber, L...	OMIM:221900
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur...	ORPHA:2414
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia, Hyperventilation	ORPHA:420492
Familial Dysautonomia	Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Hypertension, Corneal o...	ORPHA:1764
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Corneal ulceration, Limbal stem cell defi...	ORPHA:2363
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Hypertrophic cardiomyopathy	ORPHA:496790
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Opacification of the corneal stroma, My...	OMIM:205400
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Amyloidosis, Familial Visceral	Hypertension, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:105200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension, Central hypoventilation	OMIM:619483
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Corneal opacity, Aortic regurgitation	OMIM:607016
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Sialidosis Type 1	Cataract, Corneal opacity, Splenomegaly	ORPHA:812
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Sclerocornea, Ventricular ...	OMIM:300952
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Vasculitis, Neutropenia in pre...	OMIM:601859
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Fulminant hepatitis, Hypotension, Leukocytosis, Leukopenia, Subconjunct...	ORPHA:319213
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial ...	OMIM:277400
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Corneal opacity, Tricuspid regurgita...	OMIM:620519
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Erectile dysfunction, Elevated jugular venous ...	ORPHA:465508
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem...	ORPHA:848
Juvenile Sialidosis Type 2	Hepatomegaly, Visceromegaly, Corneal opacity, Hepatosplenomegaly, Cataract	ORPHA:93399
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Pancreatitis, Anemia, Abnormal proportion of naive CD4...	ORPHA:1830
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Myotonic Dystrophy 2	Posterior subcapsular cataract, Right bundle branch block, Oligozoospermia, Premature ventricular...	OMIM:602668
Fabry Disease	Congestive heart failure, Cornea verticillata, Anemia, Angina pectoris, Corneal dystrophy, Hypert...	ORPHA:324
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Mucolipidosis Type Iii Alpha/Beta	Congestive heart failure, Aortic regurgitation, Corneal opacity, Right ventricular hypertrophy, M...	ORPHA:423461
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity	OMIM:619339
Neuroleptic Malignant Syndrome	Thrombocytosis, Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Leukocytosis, Thromb...	ORPHA:94093
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S...	ORPHA:261529
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Hepatomegaly, Corneal opacity, Pulmonic stenosis, Leukopenia, Thrombocytopenia, Abno...	OMIM:301056
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Hurler Syndrome	Hepatomegaly, Aortic regurgitation, Corneal opacity, Cardiomyopathy, Enlarged tonsils, Hepatosple...	OMIM:607014
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, C...	ORPHA:860
Rett Syndrome	Prolonged QTc interval, Intermittent hyperventilation, Abnormal T-wave	OMIM:312750
Multiple Sulfatase Deficiency	Cataract, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:585
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Bradycardia	ORPHA:90673
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Epistaxis, Hepatosplenomegaly...	OMIM:612840
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Abnormality of the lymphatic syst...	ORPHA:1414
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Epistaxis, Splenomegaly, Th...	OMIM:619463
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Central hypoventilation	ORPHA:251992
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple...	OMIM:314050
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Howell-Jolly bodies, Hypertrophic cardiomyopat...	ORPHA:85443
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Bradycardia, Capillary leak, Neutrophilia in presence of...	ORPHA:99826
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Cocaine Intoxication	Mydriasis, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hyp...	ORPHA:90068
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertensi...	ORPHA:79083
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Astigmatism, Sinus bradycardia	OMIM:619482
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Microcornea, Female infertility, Amenorrhea, Irregular menstruation	OMIM:110100
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Gm1 Gangliosidosis	Congestive heart failure, Corneal opacity, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:354
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Aortic regurgitation	OMIM:616603
Wagro Syndrome	Cataract, Hypertension, Corneal opacity, Aniridia	OMIM:612469
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Aortic valve stenosis, Opacification of the corneal stroma, Mitral...	OMIM:253010
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Hepatomegaly, Sinus tachycardia, Corneal opacity, Cardiomyopathy, Pulmon...	OMIM:253200
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity, Ascites, Hepatitis	ORPHA:584
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypertension, Keratitis, Opacification of...	OMIM:308205
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Cystinosis	Corneal opacity, Portal hypertension	ORPHA:213
Zellweger Syndrome	Jaundice, Hepatomegaly, Corneal opacity, Posterior embryotoxon, Brushfield spots, Cataract	ORPHA:912
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Ascite...	ORPHA:333
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly	OMIM:272200
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Primary Ciliary Dyskinesia	Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia	ORPHA:244
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f...	ORPHA:64743
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen, T-wave inversio...	ORPHA:1666
Lcat Deficiency	Corneal opacity, Hemolytic anemia	ORPHA:650
Mucopolysaccharidosis Type 1	Congestive heart failure, Abnormality of the tonsils, Corneal opacity, Hypertrophic cardiomyopath...	ORPHA:579
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Hypertension, Corneal opacity, Cardiom...	ORPHA:93473
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction, Priapism,...	OMIM:603903
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Vasculitis, Viral hepatit...	ORPHA:91138
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Corneal opacity, Hepatomegaly	ORPHA:349
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis, Hyperventilation	OMIM:614325
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Opacification of the cor...	OMIM:231005
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Bradycardia	ORPHA:90674
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Developmental glaucoma, Corneal opacity, Megalocornea	ORPHA:2409
Yellow Fever	Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S...	ORPHA:99829
3-Methylglutaconic Aciduria, Type Viii	Cataract, Jaundice, Neutropenia, Bradycardia	OMIM:617248
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Dopamine Beta-Hydroxylase Deficiency	Retrograde ejaculation, Anemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Abnormal EKG	ORPHA:230
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro...	ORPHA:268
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Chordee, Sclerocornea, Arrhythmia, Cataract, Peters anomaly, Junctio...	OMIM:309801
Obesity-Hypoventilation Syndrome	Hypoventilation	OMIM:257500
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Intermittent hyperventilation, Hepatomegaly, Hepatic steatosis	ORPHA:348
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fraction, Recurrent tonsillitis, Co...	ORPHA:581
Mucopolysaccharidosis, Type Vii	Corneal opacity, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:253220
Cholera	Tachycardia, Hypovolemic shock, Hypotension, Hyperventilation	ORPHA:173
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Sclerocornea, Iris coloboma	ORPHA:139471
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Chronic Pneumonitis Of Infancy	Mediastinal lymphadenopathy, Hyperventilation	ORPHA:91359
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal st...	OMIM:251290
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Walker-Warburg Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma	ORPHA:899
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Bradycardia	ORPHA:97297
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Sinus tachycardia, Subarachno...	OMIM:232300
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Central hypoventilation, Decreased heart rate variabi...	OMIM:209880
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni...	ORPHA:98849
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Gray Platelet Syndrome	Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Epistaxis, Splenomegaly	OMIM:139090
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Incontinentia Pigmenti	Congestive heart failure, Corneal opacity, Cerebral ischemia, Pulmonary arterial hypertension, Re...	ORPHA:464
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
8Q21.11 Microdeletion Syndrome	Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity	ORPHA:284160
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Tangier Disease	Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepato...	ORPHA:31150
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly, Hyperventilation	OMIM:612291
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Hypertension, Transient ischemic a...	OMIM:242900
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Tachycardia, Infertility, Dyspareunia, Dysmenorrhea, Syncope	ORPHA:71273
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Aortic regurgitation, Cardiomyopathy, Hyperopic astigmatism, Severely reduced left ...	OMIM:252600
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Opacification of the corneal stroma, Macronodular cirrhosis	OMIM:215250
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Conjunctival hyperemia, Corneal opacity	ORPHA:2399
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Spl...	ORPHA:131
Mucopolysaccharidosis Type 2, Severe Form	Hypertension, Corneal opacity, Cardiomyopathy, Arrhythmia, Enlarged tonsils, Splenomegaly, Hepato...	ORPHA:217085
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal cornea morphology, Dilated cardiomyopathy, Anemia, Bradycardia	ORPHA:79404
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypogonadotropic hypogonadism, Bradycardia	ORPHA:226307
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Developmental cataract, Cerebral hemorrhage, Pos...	OMIM:171300
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytosis, Angina pectoris, Hyper...	ORPHA:729
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Mucopolysaccharidosis Type 2, Attenuated Form	Hypertension, Corneal opacity, Cardiomyopathy, Arrhythmia, Enlarged tonsils, Splenomegaly, Hepato...	ORPHA:217093
Al-Gazali Syndrome	Sclerocornea, Corneal opacity	OMIM:609465
Stromme Syndrome	Accessory spleen, Microcornea, Sclerocornea, Cataract, Peters anomaly, Iris coloboma	OMIM:243605
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo...	OMIM:613673
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Corneal opacity, Iris hypopigmentation, Cataract, Ocular albinism	ORPHA:2719
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Alpha-Mannosidosis, Infantile Form	Astigmatism, Aortic regurgitation, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, M...	ORPHA:309282
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity	OMIM:120200
African Trypanosomiasis	Myocarditis, Congestive heart failure, Iritis, Jaundice, Lymphadenopathy, Hepatomegaly, Infertili...	ORPHA:3385
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Mucolipidosis Iii Gamma	Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation	OMIM:252605
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation	OMIM:618232
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hypertension, ...	ORPHA:139411
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Delayed mena...	ORPHA:648
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Azoospermia, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opac...	ORPHA:2072
Joubert Syndrome 17	Hyperventilation	OMIM:614615
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Vacuolated lymp...	ORPHA:565612
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Brushfield spo...	OMIM:214110
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Epistaxis, Splenomegaly, Stomatocy...	OMIM:153670
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Hepatomegaly, Lymphadenopathy, Azoospermia, Retroperitoneal fibrosis, Pancreatic h...	OMIM:602782
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Rabin-Pappas Syndrome	Cataract, Hypoventilation, Retinal telangiectasia	OMIM:620155
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Alternating Hemiplegia Of Childhood	Mydriasis, Aspiration, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Abnormal T-wave	ORPHA:2131
Mucopolysaccharidosis Type 2	Hepatomegaly, Hypertension, Corneal opacity, Cardiomyopathy, Enlarged tonsils, Splenomegaly, Arrh...	ORPHA:580
Focal Dermal Hypoplasia	Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Telangiectasia of the skin, Iris coloboma	ORPHA:2092
Mosaic Trisomy 9	Corneal opacity, Abnormal liver lobulation, Asplenia	ORPHA:99776
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Conjunctival icterus, Cholelithiasis,...	ORPHA:53035
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy...	ORPHA:255210
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Iris coloboma	ORPHA:251038
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Cardiomegaly, ...	ORPHA:79280
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Hepatomegaly, Aortic regurgitation, Intrahepatic biliary dysgenesis, Cholestasis, Tricu...	OMIM:614866
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Postpoliomyelitis Syndrome	Hypoventilation	ORPHA:2942
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Reduced left ventricular ejection fraction, Aspiration, Cardiomyopathy, Pulmonar...	ORPHA:258
Perry Syndrome	Hypoventilation, Central hypoventilation	OMIM:168605
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae, Increased hepatic echogenicity	OMIM:608940
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis...	OMIM:208540
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Posterior embryotoxon, Scl...	ORPHA:2556
Carpenter Syndrome 1	Pulmonic stenosis, Opacification of the corneal stroma, Microcornea, Polysplenia	OMIM:201000
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Corneal opacity, Ascites, Acute lymphoblastic leukemia, Cataract	ORPHA:1052
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Corneal opacity, Megalocornea, Pulmonic stenosis, Aortic valve st...	ORPHA:536471
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma, Splenomegaly	ORPHA:583
Aromatase Deficiency	Male infertility, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Corneal opacity, Megalocornea, Cataract, Buphthalmos, Peters anomaly	OMIM:236670
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Corneal opacity, Splenic infarctio...	ORPHA:355
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Hyperventilation	OMIM:617903
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Astigmatism, Corneal opacity, Aortic regurgitation	ORPHA:464311
Tbck-Related Intellectual Disability Syndrome	Pulmonic stenosis, Corneal opacity	ORPHA:488632
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae	OMIM:601499
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma	ORPHA:77298
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Heterochromia iridis, Splenomegaly, Hypogonadism, Arrhythmia	ORPHA:163746
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Hyperventilation	ORPHA:98784
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Astigmatism	OMIM:618493
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Astigmatism, Corneal opacity, Aortic regurgitation	ORPHA:464306
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Premature ovarian insufficiency, Cirrhosis, Prolonged QT interval, Sec...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Premature ovarian insufficiency, Cirrhosis, Prolonged QT interval, Sec...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Premature ovarian insufficiency, Cirrhosis, Prolonged QT interval, Sec...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Premature ovarian insufficiency, Cirrhosis, Prolonged QT interval, Sec...	ORPHA:99226
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Corneal opacity, Pulmonary arterial hypertension, Iris coloboma	ORPHA:2396
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Sclerocornea, Ectopia pupillae	OMIM:615877
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Aortic regurgitation, Corneal ulceration, Angina pectoris,...	ORPHA:740
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperventilation	OMIM:253270
Childhood Absence Epilepsy	Hyperventilation	ORPHA:64280
Cockayne Syndrome A	Hepatomegaly, Hypertension, Thymic hormone decreased, Splenomegaly, Hypogonadism, Arrhythmia, Cat...	OMIM:216400
Mogs-Cdg	Hypoventilation, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy...	ORPHA:79330
Pitt-Hopkins-Like Syndrome 1	Hyperventilation	OMIM:610042
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Megalocornea, Hype...	OMIM:252500
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Moebius Syndrome	Corneal opacity, Hypogonadotropic hypogonadism	ORPHA:570
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Sclerocornea, Hypoplasia of the iris	OMIM:613001
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Microcornea, Abnormal platelet morph...	ORPHA:46059
Fryns Syndrome	Corneal opacity	ORPHA:2059
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperventilation, Astigmatism, Neutropenia	OMIM:617799
Meckel Syndrome	Accessory spleen, Microcornea, Asplenia, Sclerocornea, Congenital hepatic fibrosis, Cystic liver ...	ORPHA:564
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Hepatomegaly, Corneal opacity, Corneal ulceration	OMIM:615273
Synaptic Congenital Myasthenic Syndromes	Right ventricular hypertrophy, Hypoventilation, Pulmonary arterial hypertension	ORPHA:98915
Thrombocytopenia-Absent Radius Syndrome	Anemia, Corneal opacity, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Cataract, Eosinophil...	OMIM:274000
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Hepatomegaly	OMIM:606056
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation	OMIM:617143
Cockayne Syndrome B	Hepatomegaly, Microcornea, Hypertension, Hypoplasia of the iris, Developmental cataract, Splenome...	OMIM:133540
Williams Syndrome	Hypertension, Corneal opacity, Cerebral ischemia, Pulmonic stenosis, Cardiomegaly, Posterior embr...	ORPHA:904
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Hepatomegaly	ORPHA:163681
Wilson Disease	Sunflower cataract, Jaundice, Portal fibrosis, Cirrhosis, Hepatomegaly, Anemia, Kayser-Fleischer ...	OMIM:277900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Oculoectodermal Syndrome	Astigmatism, Microcornea, Transient ischemic attack, Hypertrophic cardiomyopathy, Limbal dermoid,...	OMIM:600268
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation	OMIM:620275
Oculocerebrorenal Syndrome Of Lowe	Anemia, Azoospermia, Corneal opacity, Thrombocytopenia, Cataract, Buphthalmos, Abnormal pupil mor...	ORPHA:534
Pitt-Hopkins Syndrome	Intermittent hyperventilation, Astigmatism	OMIM:610954
Acute Liver Failure	Hyperventilation, Gastrointestinal hemorrhage, Jaundice, Hepatic periportal necrosis, Hypotension...	ORPHA:90062
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma, Hepatomegaly	OMIM:253000
Developmental And Epileptic Encephalopathy 2	Hyperventilation	OMIM:300672
Biotinidase Deficiency	Hyperventilation, Conjunctivitis	ORPHA:79241
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor...	ORPHA:572333
Autosomal Dominant Cutis Laxa	Congestive heart failure, Aortic regurgitation, Corneal opacity, Developmental cataract, Mitral r...	ORPHA:90348
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cir...	OMIM:613471
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Keratitis, Telangiectasia of the skin, Hypogonadism, Cata...	ORPHA:910
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Brushfield spots, Cat...	OMIM:214100
Pitt-Hopkins Syndrome	Astigmatism, Hyperventilation	ORPHA:2896
Cerebellar-Facial-Dental Syndrome	Cataract, Abnormal T-wave	ORPHA:444072
Neurofibromatosis Type 1	Hypertension, Corneal opacity, Heterochromia iridis, Chronic myelogenous leukemia, Cataract, Lisc...	ORPHA:636
Norrie Disease	Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ec...	ORPHA:649
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, A...	OMIM:241080
Prader-Willi Syndrome	Hypoventilation, Infertility, Oligomenorrhea, Primary amenorrhea, Hypogonadotropic hypogonadism	OMIM:176270
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation	ORPHA:314655
Chime Syndrome	Acute leukemia, Corneal opacity	ORPHA:3474
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Corneal dystrophy, Corneal opacity, Keratoconjunctivitis sicca	ORPHA:495875
Bethlem Muscular Dystrophy	Hypoventilation	ORPHA:610
Peters Plus Syndrome	Microcornea, Corneal opacity, Pulmonic stenosis, Cataract, Peters anomaly, Anterior chamber synec...	ORPHA:709
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion	ORPHA:920
Larsen Syndrome	Corneal opacity	OMIM:150250
Osteogenesis Imperfecta	Corneal opacity, Thrombocytopenia, Cerebral hemorrhage, Aortic regurgitation	ORPHA:666
Kindler Epidermolysis Bullosa	Corneal opacity, Anemia, Conjunctivitis	ORPHA:2908
Intellectual Developmental Disorder, Autosomal Dominant 57	Hyperventilation	OMIM:618050
Microphthalmia, Syndromic 3	Cataract, Sclerocornea, Hypogonadotropic hypogonadism	OMIM:206900
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Abnormal spermatogenesis, Hypogonadism, Streak ovary, Abnormal T...	ORPHA:3464
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mosaic Trisomy 1	Hepatic agenesis, Opacification of the corneal stroma	ORPHA:1692
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation	OMIM:300749
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Megalocornea, Sclerocornea, Abdominal situs inversus, Iris coloboma	ORPHA:280
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Anisocoria	ORPHA:99949
Phace Syndrome	Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma	ORPHA:42775
Proboscis Lateralis	Cataract, Microcornea, Corneal opacity, Iris coloboma	ORPHA:141099
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hyperventilation	ORPHA:522077
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma, Pulmonary arterial hypertension	OMIM:601559
Galloway-Mowat Syndrome 1	Cataract, Opacification of the corneal stroma, Hypoplasia of the iris	OMIM:251300
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin	ORPHA:2907
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Corneal erosion, Corneal opacity, Keratitis, Conjunctivitis	ORPHA:2273
Smith-Lemli-Opitz Syndrome	Cataract, Abnormality of the gallbladder, Sclerocornea, Iris coloboma	ORPHA:818
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Ascites, Bile duct pro...	OMIM:203700
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Yunis-Varon Syndrome	Cardiomegaly, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hyperte...	ORPHA:3472
Fraser Syndrome 1	Corneal opacity, Abnormal thymus morphology	OMIM:219000
Wiedemann-Rautenstrauch Syndrome	Corneal opacity, Pulmonic stenosis, Cataract, Hepatic steatosis, Hypogonadotropic hypogonadism	ORPHA:3455
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Digeorge Syndrome	Anemia, Cholelithiasis, Hypoplasia of the thymus, Posterior embryotoxon, Sclerocornea, Splenomega...	OMIM:188400
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn...	OMIM:263650
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Corneal opacity, Biliary tract abnormality, Cataract, Opacification of the corn...	OMIM:268300
Fryns Syndrome	Ectopic pancreatic tissue, Opacification of the corneal stroma, Polysplenia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea	OMIM:253280
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea, Female hypogonadism	OMIM:607932
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Central hypoventilation	ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Chordee	OMIM:620455
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Pulmonic stenosis, Hypoventilation, Anemia	ORPHA:438213
Yunis-Varon Syndrome	Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Heart murmur, Cataract	OMIM:216340
Pallister-Killian Syndrome	Cataract, Aortic valve stenosis, Hypertrophic cardiomyopathy, Hyperventilation	OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3		OMIM:618845

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nadsyn1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nadsyn1.

No publications found that use IMPC mice or data for Nadsyn1.

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MGI Allele	Allele Type	Produced
Nadsyn1^{tm44427(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nadsyn1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Nadsyn1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nadsyn1 MGI:1926164

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Adult LacZ

Human diseases caused by Nadsyn1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data