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Gene: Lsm1 MGI:1914457

Gene Summary

Name:

LSM1 homolog, mRNA degradation associated

Synonyms:

U6 small nuclear RNA associated, 2810025O06Rik

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
increased mean corpuscular volume	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.14×10^-05
increased circulating alkaline phosphatase level	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.87×10^-08
abnormal auditory brainstem response	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.60×10^-05
cataract	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.06×10^-05
decreased grip strength	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.59×10^-08
abnormal lens morphology	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.04×10^-06
dilated aorta	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.32×10^-05
preweaning lethality, incomplete penetrance	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00380
abnormal lens morphology	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.51×10^-05
prolonged RR interval	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.81×10^-05
increased heart rate variability	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.38×10^-06
increased heart rate variability	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.19×10^-07
decreased locomotor activity	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.40×10^-05
dilated aorta	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.29×10^-10
increased circulating sodium level	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.75×10^-05
hyperactivity	Lsm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-05
increased grip strength	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.05×10^-05
thick ventricular wall	Lsm1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.95×10^-05

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	50% (1 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Submandibular gland	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Chest bone	N/A	heterozygote	0.0% (0 of 2)
Colon	N/A	heterozygote	0.0% (0 of 2)
Cranium	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	Not available
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Main olfactory bulb	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	Not available
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	Not available
Vagina	N/A	heterozygote	Not available
Vas deferens	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone	0.0%
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
cranium
diaphragm	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
main olfactory bulb	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	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%
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

20 Images

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Adult LacZ

LacZ Images Wholemount

10 Images

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Electrocardiogram (ECG)

Waveform Image

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

View images

Human diseases caused by Lsm1 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 Lsm1 (0 diseases)
Human diseases predicted to be associated with Lsm1 (556 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lsm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Nathalie Syndrome	Arrhythmia, Cataract, Sensorineural hearing impairment	ORPHA:2663
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Juvenile cataract, Arrhythmia	OMIM:212500
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Thrombocytopenia, Patent du...	OMIM:617021
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr...	OMIM:612422
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct...	OMIM:615779
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia, Ectopia lentis	OMIM:238700
Mass Syndrome	Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection, Ectopia lentis	OMIM:604308
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment	OMIM:614896
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Nathalie Syndrome	Abnormal EKG, Cataract, Hearing impairment	OMIM:255990
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract, Premature coronary artery ather...	OMIM:618463
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Spastic Paraparesis-Deafness Syndrome	Sensorineural hearing impairment, Cataract, Ataxia, Gait disturbance	ORPHA:2815
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection...	OMIM:616166
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c...	OMIM:615184
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre...	OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ...	ORPHA:2169
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Mitral regurgitation, I...	OMIM:612561
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:620125
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive...	OMIM:239500
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Sensorineural hearing impairment, Cataract, Developmental cataract	OMIM:613076
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Ravine Syndrome	Ataxia, Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
Temtamy Syndrome	Aortic regurgitation, Ectopia lentis, Lens luxation, Lop ear, Self-mutilation, Low-set ears, Iris...	OMIM:218340
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aortic aneurysm	ORPHA:261102
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Devel...	ORPHA:124
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral regurgitation, Increased m...	ORPHA:261250
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Cln3 Disease	Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, T-wav...	ORPHA:228346
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular...	ORPHA:3287
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, EEG abnormality, Bradycardia, Hy...	OMIM:618815
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Maternally-Inherited Diabetes And Deafness	Cataract, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Hypertension, Arrhy...	ORPHA:225
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Nephrogenic Diabetes Insipidus	Hypernatremia, Hypovolemia	ORPHA:223
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Periventricular Nodular Heterotopia	Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm	ORPHA:98892
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Cupped ea...	OMIM:617052
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A...	ORPHA:99094
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:203400
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum...	OMIM:611590
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	OMIM:610600
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Colchicine Poisoning	Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio...	ORPHA:31824
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil...	ORPHA:66529
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy	OMIM:605899
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Diamond-Blackfan Anemia 7	Macrocytic anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Atresia of the ex...	OMIM:612562
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury...	OMIM:619825
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aortic morpholog...	ORPHA:3222
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul...	OMIM:261600
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:556037
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hypotension	OMIM:264350
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Temtamy Syndrome	Iris coloboma, Low-set ears, Aortic aneurysm	ORPHA:1777
Igg4-Related Aortitis	Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Abnormal aortic ...	ORPHA:449400
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:556030
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy...	OMIM:606069
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Infant Botulism	Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis	ORPHA:178478
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Aminoacylase 1 Deficiency	Hyperactivity, Sensorineural hearing impairment, Bradycardia	OMIM:609924
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Morm Syndrome	Hyperactivity, Cataract, Aggressive behavior	ORPHA:75858
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndr...	OMIM:127550
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia	ORPHA:171876
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Ag...	ORPHA:3077
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti...	OMIM:601419
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper...	OMIM:301008
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves	ORPHA:2382
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy,...	OMIM:618805
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Cataract, Retinal telangiectasia	OMIM:620157
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract, Ataxia, Elevated circulating creatine kinase concentration, Inability to walk, Sensorin...	OMIM:615350
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Faci...	OMIM:620141
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation, Cardiomyopathy, Thrombocytopenia, Hearing impairment	ORPHA:67048
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Cardiomyopathy, Progressive hearing impairment, Gait disturbance, Bradycardia, Dysphagi...	OMIM:609286
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Arterial Tortuosity Syndrome	Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ...	ORPHA:3342
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia, Iri...	ORPHA:411515
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P...	ORPHA:99050
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona...	OMIM:600501
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong...	ORPHA:542306
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling...	ORPHA:52368
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Stro...	ORPHA:173
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Necrotizing Enterocolitis	Hyponatremia, Shock, Abnormal heart morphology, Bradycardia, Hypotension	ORPHA:391673
Usher Syndrome Type 3	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iri...	ORPHA:231183
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter...	ORPHA:60041
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Splen...	OMIM:617302
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Lens s...	OMIM:609008
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, C...	ORPHA:1764
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Infantile Refsum Disease	Cataract, Ataxia, Facial palsy, Sensorineural hearing impairment, Elevated circulating phytanic a...	ORPHA:772
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia	ORPHA:79273
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration	ORPHA:3233
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism...	OMIM:618718
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Giant Cell Arteritis	Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Optic atrophy, Cereb...	ORPHA:397
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri...	OMIM:212138
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma...	ORPHA:477817
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Alport Syndrome	Posterior subcapsular cataract, Sensorineural hearing impairment, Abnormal corneal endothelium mo...	ORPHA:63
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car...	ORPHA:1215
Congenital Contractural Arachnodactyly	Aortic aneurysm, Mitral valve prolapse, Ectopia lentis	ORPHA:115
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part...	OMIM:619657
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev...	ORPHA:427
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	OMIM:619260
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti...	ORPHA:228360
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy...	OMIM:613845
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta...	OMIM:175050
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia	ORPHA:549
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Hypertension, Hypokalemia, Hypocalcemia, Renal artery stenosis	OMIM:617913
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,...	ORPHA:168491
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Sensorineural hearing impairment, O...	OMIM:222300
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Fragile X Syndrome	Self-injurious behavior, Ascending tubular aorta aneurysm, Attention deficit hyperactivity disord...	ORPHA:908
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a...	ORPHA:185
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal pinna morphology, Congestive heart failure, Arterial rupture, Impaired tandem gait, Micr...	ORPHA:1900
Alg8-Cdg	Hyponatremia, Cataract	ORPHA:79325
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect	OMIM:608688
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally...	OMIM:109120
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal defect, Double o...	ORPHA:1667
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Ataxia, Optic atrophy, Hypertension, Conjunctiviti...	ORPHA:90321
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ...	OMIM:620070
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Myotonic Dystrophy 1	Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial dipleg...	OMIM:160900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No...	OMIM:618775
Refsum Disease, Classic	Cataract, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Elevated circulatin...	OMIM:266500
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic at...	OMIM:612674
Renal Hypoplasia, Bilateral	Hyponatremia, Hypertension, Astigmatism, Hyperkalemia	ORPHA:97362
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment	OMIM:616277
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis	ORPHA:83601
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Bradycardia, Congestive heart failure	OMIM:619048
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Ventricular arrhythmia, Abnormal left ventricular function, Hype...	ORPHA:36913
Loeys-Dietz Syndrome 4	Flat cornea, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Dysphagia, Hypertension, Bradyca...	ORPHA:3299
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Patent duct...	ORPHA:96121
Timothy Syndrome	Prolonged QT interval, Patent ductus arteriosus, Ventricular tachycardia, Atrioventricular block,...	OMIM:601005
Peroxisome Biogenesis Disorder 9B	Cataract, Ataxia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentrat...	OMIM:614879
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total...	OMIM:616299
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo...	ORPHA:3452
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c...	OMIM:619381
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Compulsive behaviors, Juvenile cataract, Abnormal repetitive mannerisms, Ir...	OMIM:619475
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy...	ORPHA:247353
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, EEG abnormality, Gai...	ORPHA:588
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc...	OMIM:618183
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hyperkalemia, Hypovo...	ORPHA:95409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Rabin-Pappas Syndrome	Hyponatremia, Cataract, Retinal telangiectasia	OMIM:620155
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension	ORPHA:79473
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe...	OMIM:270100
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Idiopathic Congenital Hypothyroidism	Lethargy, Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Transketolase Deficiency	Cataract, Abnormal coronary artery course, Elevated circulating ribitol concentration, Patent duc...	ORPHA:488618
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Acitretin/Etretinate Embryopathy	Cupped ear, Antecubital pterygium, Conotruncal defect, Microtia, Hypoplasia of the thymus, Third ...	ORPHA:40366
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Elevated circulating creatine kinase concentration, Thoracic aortic an...	ORPHA:365
Mirage Syndrome	Hyponatremia, Patent ductus arteriosus, Hyperkalemia, Intracranial hemorrhage	OMIM:617053
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Familial Thyroid Dyshormonogenesis	Sensorineural hearing impairment, Bradycardia, Lethargy, Abnormal circulating thyroglobulin level...	ORPHA:95716
Familial Glucocorticoid Deficiency	Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension	ORPHA:361
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ...	ORPHA:330001
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor...	ORPHA:99027
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Developmental cataract...	ORPHA:93400
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Patent ductus arteriosus, Dilat...	OMIM:610505
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia	OMIM:614407
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Precocious atherosclerosis, Hypovolem...	ORPHA:275761
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Low-set ears, Dy...	ORPHA:93399
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Abnormal eating be...	ORPHA:98794
Shigellosis	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, C...	ORPHA:810
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension	ORPHA:199299
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve...	ORPHA:909
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Aortic root aneurysm, ...	ORPHA:449291
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Ataxia, Myocardial infarction, Abnormal circulating...	OMIM:213700
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia, Bradycardia, Low-set ears, Neonatal death	OMIM:610015
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin...	OMIM:610168
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Antecubital pterygium, Aortic aneurysm, Popliteal pterygium, Gait disturbance,...	ORPHA:2990
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Abnormal cardiac ventricle morphology, Hea...	ORPHA:284979
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cataract, Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait at...	OMIM:618321
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Marfan Syndrome	Flat cornea, Ectopia lentis, Lens luxation, Congestive heart failure, Descending aortic dissectio...	ORPHA:558
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Se...	ORPHA:760
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Patent ductus arterio...	OMIM:220120
Alg12-Cdg	Hyponatremia, Patent ductus arteriosus, Muscular ventricular septal defect, Biventricular hypertr...	ORPHA:79324
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo...	ORPHA:980
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension, Mydriasis	ORPHA:95613
Seckel Syndrome 10	Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure,...	OMIM:617253
Mend Syndrome	Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-deh...	ORPHA:401973
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, A...	OMIM:256800
Holoprosencephaly	Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic mor...	ORPHA:2162
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Mixed h...	ORPHA:309288
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:90791
Dystonia-Deafness Syndrome 1	Cataract, Sensorineural hearing impairment, Pseudobulbar paralysis, Dysphagia, Loss of ambulation	OMIM:607371
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Cataract 47	Microcornea, Cataract	OMIM:612018
Familial Isolated Hypoparathyroidism	Arrhythmia, Cataract, Hypocalcemia	ORPHA:2238
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal...	ORPHA:221098
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, EEG with generalized...	ORPHA:163681
Cap Myopathy	Reduced systolic function, Facial palsy, Aortic root aneurysm, Tip-toe gait, Sinus tachycardia	ORPHA:171881
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Cockayne Syndrome A	Cataract, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve...	OMIM:216400
Rin2 Syndrome	Aortic aneurysm	ORPHA:217335
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Sensorineural hearing impairment, Abnormal earlobe morphology, Tics, Compul...	ORPHA:261330
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Phace Syndrome	Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,...	ORPHA:42775
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Lethargy, Thrombocytopenia	OMIM:617397
Chromosome 18Q Deletion Syndrome	Broad-based gait, Congestive heart failure, Sensorineural hearing impairment, Patent ductus arter...	OMIM:601808
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, ...	OMIM:310600
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Tip-toe ...	ORPHA:565624
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Sheehan Syndrome	Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia	OMIM:126320
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,...	ORPHA:90038
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Ascending tubular aorta aneurysm, Compulsive behaviors, Low-s...	OMIM:309520
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Lateral Meningocele Syndrome	Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm	OMIM:130720
Alkaptonuria	Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane...	OMIM:203500
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Sensorineural hearing impairment, Subdural hemorrhage, Arterial rupture, Aor...	ORPHA:536545
Epidermal Nevus Syndrome	Astigmatism, Aortic aneurysm	ORPHA:35125
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Intraventricular hemorrhage, Optic atrophy, Protruding ear, Developmental catar...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Intraventricular hemorrhage, Optic atrophy, Protruding ear, Developmental catar...	ORPHA:363958
Blau Syndrome	Pericarditis, Cataract, Facial palsy, Keratitis, Splenomegaly, Large vessel vasculitis, Aortic an...	ORPHA:90340
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Portal hypertension, Short-se...	OMIM:609136
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary ...	OMIM:208050
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Hypertension, Agitation, Low-set ears, Compulsive...	OMIM:612469
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia	ORPHA:79276
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Patent ductus arteriosus, Sensorineural hearing impairment, Bidirection...	OMIM:619351
Castleman Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Decreased mean corpuscul...	ORPHA:160
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Developmental glaucoma, Calcification o...	ORPHA:51
Marfan Syndrome	Aortic regurgitation, Cataract, Tricuspid regurgitation, Bicuspid aortic valve, Ectopia lentis, C...	OMIM:154700
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusion, Increased circulating ferrit...	ORPHA:167
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Adenohypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95512
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Protruding ear, Mitral regurgitation, Aortic root aneurysm, Attention defici...	OMIM:301039
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Agel Amyloidosis	Cataract, Ataxia, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal spleen morph...	ORPHA:85448
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90348
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:609192
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to wal...	OMIM:608885
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar...	ORPHA:99826
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Abnorma...	ORPHA:284984
Panhypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95513
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b...	ORPHA:324
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Macrotia, A...	ORPHA:109
Macs Syndrome	Dilation of Virchow-Robin spaces, Aortic aneurysm	OMIM:613075
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Mitra...	OMIM:121050
Osteogenesis Imperfecta	Aortic regurgitation, Mixed hearing impairment, Arterial dissection, Corneal opacity, Ataxia, Cer...	ORPHA:666
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Aortic aneurysm,...	ORPHA:805
Alport Syndrome 2, Autosomal Recessive	Cataract, Corneal erosion, Hypertension, Anterior lenticonus, Hearing impairment	OMIM:203780
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis, K...	OMIM:278730
Loeys-Dietz Syndrome	Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec...	ORPHA:60030
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase...	ORPHA:168558
Liver Disease, Severe Congenital	Hyponatremia, Ventricular septal defect, Left atrial enlargement, Elevated circulating alpha-feto...	OMIM:619991
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase...	ORPHA:289548
Addison Disease	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:85138
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Conductive hearing impair...	ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, H...	ORPHA:534
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Congenital Myopathy 22A, Classic	Waddling gait, Tricuspid regurgitation, Bradycardia, Neonatal death, Mildly elevated creatine kinase	OMIM:620351
3-Methylglutaconic Aciduria, Type Viii	Cataract, Sensorineural hearing impairment, Patent ductus arteriosus, Dysphagia, Bradycardia, Neu...	OMIM:617248
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Abnormal T-wave, Cataract, Low-set ears	ORPHA:444072
Yuan-Harel-Lupski Syndrome	Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Aortic root an...	OMIM:616652
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil...	ORPHA:1054
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:293978
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Thoracic aortic aneurysm, Microcornea, Ascend...	ORPHA:536467
Osteogenesis Imperfecta, Type I	Mitral valve prolapse, Aortic aneurysm	OMIM:166200
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Cystinosis, Nephropathic	Hyponatremia, Corneal crystals, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Recur...	OMIM:219800
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma...	ORPHA:89938
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis	ORPHA:544482
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Cutis Laxa, Autosomal Recessive, Type Ia	Ascending tubular aorta aneurysm, Vascular tortuosity, Supravalvular aortic stenosis	OMIM:219100
Cutis Laxa, Autosomal Recessive, Type Iid	Cataract, Congestive heart failure, Protruding ear, Right bundle branch block, Ascending tubular ...	OMIM:617403
Japanese Encephalitis	Hyponatremia	ORPHA:79139
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Immunodeficiency 23	Hemolytic anemia, Ataxia, Eosinophilia, Sensorineural hearing impairment, Aortic root aneurysm, V...	OMIM:615816
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi...	ORPHA:90051
Shprintzen-Goldberg Craniosynostosis Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment,...	OMIM:182212
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating...	ORPHA:90674
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Corneal opacity, Aortic aneurysm	OMIM:150250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Peripheral arteriovenous fistula, Va...	ORPHA:286
Koolen-De Vries Syndrome	Hyperactivity, Cataract, Impulsivity, Anteverted ears, Patent ductus arteriosus, Aortic root aneu...	OMIM:610443
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Prominent scalp veins, Corneal opacity, Optic nerve hypoplasia...	ORPHA:536471
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia, Stroke-like episode	OMIM:619272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Protruding ear, Brux...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Protruding ear, Brux...	ORPHA:352665
Congenital Disorder Of Glycosylation, Type Im	Hypsarrhythmia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Decr...	ORPHA:580
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Subconju...	ORPHA:319213
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Cataract, Sutural cataract, Sensorineural hearing impairment, Nuclear pulve...	OMIM:612474
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Mitral valve prolapse, Ectopia lentis	OMIM:130000
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Abnormal cerebral vasc...	ORPHA:904
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histioc...	OMIM:309801
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ...	OMIM:300989
Cutis Laxa, Autosomal Recessive, Type Ib	Abnormal pinna morphology, Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuo...	OMIM:614437
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Cataract, Posteriorly rotated ears, Splenomegaly, Patent ductus arteriosus,...	OMIM:135500
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Aortic arch aneurysm, Cataract, Abnormality of the spleen, Sen...	ORPHA:1606
Proximal Spinal Muscular Atrophy	Inability to walk, Facial diplegia, Bradycardia, Difficulty walking, Dysphagia	ORPHA:70
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Low-set ears	OMIM:614653
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Aortic root a...	ORPHA:730
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec...	ORPHA:2388
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve...	OMIM:612289
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Shock, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension	ORPHA:90794
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Mitral valve prolapse, Hypertension, Keratoconjunctivitis sicca, Aortic root aneu...	OMIM:616914
Legius Syndrome	Hyperactivity, Cataract, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Vestibular schw...	ORPHA:137605
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil...	ORPHA:731
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ...	OMIM:617506
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Choreoathetosis, Bra...	OMIM:234200
Encephalitis Lethargica	Lethargy, Bradycardia	ORPHA:83600
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mi...	ORPHA:536532
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis	OMIM:618000
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Impulsivity, Corneal scarring, Anemia, Syncope, Abnormality of periph...	ORPHA:642
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Sotos Syndrome	Cataract, Aganglionic megacolon, Hypercalcemia, Aggressive behavior, Patent ductus arteriosus, Ao...	ORPHA:821
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Yellow Fever	Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	ORPHA:99829
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Venous insufficiency, Decreased nerve conduction velocity, Ascending tubular aorta a...	ORPHA:285
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Venous i...	ORPHA:649
Charge Syndrome	Low-set, posteriorly rotated ears, Aortic arch aneurysm, Facial palsy, Hearing impairment, Extern...	ORPHA:138
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Aortic root a...	OMIM:245600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Large fleshy ears...	ORPHA:280633
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Aortic root aneurysm, Dysdiadochokinesis, Compulsive behaviors, Attention defic...	OMIM:618891
Loeys-Dietz Syndrome 5	Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio...	OMIM:615582
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Chromosome 1P36 Deletion Syndrome, Distal	Thickened helices, Conductive hearing impairment, Self-mutilation, Oppositional defiant disorder,...	OMIM:607872
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e...	ORPHA:99228
Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Aortic dissection, Myocardial infarction, External e...	ORPHA:99226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Congestive heart failure, ...	ORPHA:444077
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Opitz Gbbb Syndrome	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, ...	ORPHA:2745
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia, Lethargy, Abnormal circula...	ORPHA:226307
Au-Kline Syndrome	Sensorineural hearing impairment, Hypertension, Aortic root aneurysm, Microtia, Attention deficit...	OMIM:616580
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Abnormal blood ion concentration, Abnormal cornea morphology, Bradycardia...	ORPHA:79404
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Inability to walk, Optic atrophy, Bradycardia	ORPHA:97297
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ...	ORPHA:287
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr...	ORPHA:1662
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349

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 Lsm1

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 Lsm1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
LSM14B is an Oocyte-Specific RNA-Binding Protein Indispensable for Maternal mRNA Metabolism and Oocyte Development in Mice.	Advanced science (Weinheim, Baden-Wurttemberg, Germany) (April 2023)	Lsm14b^{tm1a(KOMP)Mbp}	PMC10288277
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Lsm10^{tm2a(EUCOMM)Wtsi} Lsm14b^{tm1b(KOMP)Mbp}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lsm10^{tm2a(EUCOMM)Wtsi} Lsm11^{tm1a(KOMP)Wtsi} Lsm14b^{tm1b(KOMP)Mbp}	PMC6671969
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.	Cold Spring Harbor molecular case studies (June 2019)	Lsm1^{tm1b(EUCOMM)Hmgu}	PMC6549555
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Lsm10^{tm1a(KOMP)Wtsi} Lsm11^{tm1a(KOMP)Wtsi}	PMC6459510
A conditional knockout resource for the genome-wide study of mouse gene function.	Nature (June 2011)	Lsm11^{tm1a(KOMP)Wtsi}	PMC3572410

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MGI Allele	Allele Type	Produced
Lsm1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lsm1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lsm1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Lsm1 MGI:1914457

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

Electrocardiogram (ECG)

X-ray

Human diseases caused by Lsm1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data