Gene Summary

uncoupling protein 1 (mitochondrial, proton carrier)

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased hemoglobin content Ucp1m1H HOM   Early adult 9.91×10-06
corneal vascularization Ucp1m1H HOM Early adult 2.54×10-07
increased hematocrit Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 9.30×10-05
decreased circulating triglyceride level Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 6.13×10-05
cataract Ucp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.78×10-05
increased erythrocyte cell number Ucp1m1H HOM   Early adult 9.62×10-06
abnormal sinus arrhythmia Ucp1tm1b(EUCOMM)Hmgu HOM   Early adult 1.16×10-05
increased erythrocyte cell number Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 7.34×10-05
abnormal lens morphology Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 1.65×10-05
thick ventricular wall Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 3.36×10-05
eye hemorrhage Ucp1m1H HOM Early adult 1.37×10-08
abnormal QT variability Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 1.63×10-06

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Submandibular gland  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  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)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Heart 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)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 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)
Pituitary gland 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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Whole Body Lateral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

20 Images

Adult LacZ

LacZ Images Wholemount

9 Images


XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Ucp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Ucp1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin ORPHA:90042
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Pontiac Fever
Fever ORPHA:99748
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Aniridia 3
Cataract OMIM:617142
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Reticulocytosis, Epistaxis, I... OMIM:314050
Cyclic Neutropenia
Fever OMIM:162800
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Tempi Syndrome
Increased hematocrit, Telangiectasia, Intracranial hemorrhage, Polycythemia ORPHA:284227
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Macrophagic Myofasciitis
Fever ORPHA:592
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... ORPHA:231401
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... OMIM:615184
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Cataract 42
Cataract, Developmental cataract OMIM:115900
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Au... OMIM:617388
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... ORPHA:90647
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... ORPHA:88
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Fever ORPHA:3389
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage OMIM:193235
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract... ORPHA:1345
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Cataract OMIM:190330
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Heart block, Abnorma... ORPHA:398124
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis OMIM:237800
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... OMIM:278730
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hypertriglyceridemia, Increased red blood ce... ORPHA:90041
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Corneal neovascularization, Cataract, Eosinophilia, Opacification of the co... OMIM:158310
Familial Pseudohyperkalemia
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Duodenal Neuroendocrine Tumor
Hypotension, Increased hematocrit, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palp... ORPHA:100076
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Galactosemia Iv
Cataract OMIM:618881
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Kaposiform Lymphangiomatosis
Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bruising susceptibili... ORPHA:464329
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Normochromic microcytic anemia, Dilated cardiomyopathy, Congestive heart fa... OMIM:610198
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior ... ORPHA:39044
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, Cardiomyopathy ORPHA:67048
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ante... ORPHA:91495
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... ORPHA:1055
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Juvenile Xanthogranuloma
Hyphema, Asymmetry of iris pigmentation, Iritis, Myeloproliferative disorder ORPHA:158000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis in the skin, Decreased mean platelet volume, Thrombocytopenia, Subconju... OMIM:617718
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... OMIM:300367
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Galactosemia Ii
Cataract OMIM:230200
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... OMIM:613507
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Vitreous hemorrhage, Pulverulent cataract, Developmental cataract, Microcornea, Retinal neovascul... OMIM:193220
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Abcd Syndrome
Polycythemia OMIM:600501
Hemochromatosis, Type 4
Cardiomyopathy, Anemia, Cataract, Arrhythmia OMIM:606069
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... OMIM:600376
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... ORPHA:99827
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Weill-Marchesani Syndrome
Ventricular septal defect, Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis,... ORPHA:3449
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Subcapsular cataract OMIM:601813
Livedoid Vasculopathy
Macular purpura, Anemia, Ischemic stroke, Hypertension, Polycythemia, Ecchymosis, Pancytopenia, L... ORPHA:542643
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Abnormal heart morphology, Corneal opacity, Persistent ... ORPHA:1067
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Cataract, Left ventricular noncompaction OMIM:617228
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... OMIM:616201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Prolonged QT interval OMIM:615351
Phacoanaphylactic Uveitis
Retinal arteritis, Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae o... ORPHA:209959
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Purpura, Lymphopenia, Ecchymosis, Shock, Leukocytosis, Exce... ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... ORPHA:464321
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Hypoplasia of the iri... OMIM:175780
Hemorrhagic Fever-Renal Syndrome
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... ORPHA:340
Maternally-Inherited Diabetes And Deafness
Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract, Arrhythmia ORPHA:225
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Abnormal bleeding, ... ORPHA:86839
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... ORPHA:1329
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract OMIM:133780
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... ORPHA:848
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... ORPHA:37553
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Telangiectasia, Hereditary Hemorrhagic, Type 1
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... OMIM:187300
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Eales Disease
Vitreous hemorrhage, Iris neovascularization, Ischemic stroke, Transient ischemic attack, Periphe... ORPHA:40923
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Myofibrillar Myopathy 10
Increased QRS voltage, Left ventricular hypertrophy, Prolonged QTc interval OMIM:619040
Kid Syndrome
Conjunctivitis, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Punctat... ORPHA:477
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Shock, Pericarditis, Capillary leak, Neutrophilia in presence of in... ORPHA:99826
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:612653
Congenitally Uncorrected Transposition Of The Great Arteries
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... ORPHA:860
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Cataract, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... ORPHA:251274
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... ORPHA:263297
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... ORPHA:26793
Autoimmune Hypoparathyroidism
Conjunctivitis, Ventricular arrhythmia, Cataract, Prolonged QT interval, Abnormal left ventricula... ORPHA:36913
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Macular telangiectasia, Cataract, Vitreous hemorrhage ORPHA:891
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased circulating free fatty acid level, Abnormal circulating insu... ORPHA:293964
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Pericarditis, Thrombocytopenia, Prolonged QTc interval ORPHA:231111
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarction, Arrhythmia, Thrombocyt... ORPHA:54057
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... OMIM:310300
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Cataract, Cardiomyopathy OMIM:301075
Vitreous hemorrhage, Leukocoria, Subretinal pigment epithelium hemorrhage, Heterochromia iridis, ... ORPHA:790
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... OMIM:261740
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Malignant Hyperthermia, Susceptibility To, 5
Fever OMIM:601887
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Hypertension ORPHA:79126
Cataract 47
Cataract, Microcornea OMIM:612018
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Poems Syndrome
Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Pericardial effusion ORPHA:2905
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia OMIM:217150
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Cataract... ORPHA:290
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Splenomegaly, Prolonged prothrombin time, Corneal neovascularization ORPHA:404454
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglobin concentration, ... ORPHA:35858
Von Hippel-Lindau Disease
Polycythemia, Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitatio... ORPHA:892
Hepatocellular Carcinoma
Hypotension, Anemia, Polycythemia, Internal hemorrhage, Thrombocytopenia, Thrombocytosis, Portal ... ORPHA:88673
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Posterior embryotoxon, Purpura, Corneal neovascularization, Hypertensiv... ORPHA:567
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... OMIM:235700
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy OMIM:614879
Halothane Hepatitis
Fever OMIM:234350
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:182900
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185000
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Patent foramen... OMIM:300855
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Al Amyloidosis
Anemia, Howell-Jolly bodies, Reduced left ventricular ejection fraction, Abnormal EKG, Monoclonal... ORPHA:85443
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Sitosterolemia 1
Stomatocytosis, Anemia, Corneal arcus, Abnormal bleeding, Reticulocytosis, Episodic hemolytic ane... OMIM:210250
Fumarase Deficiency
Polycythemia OMIM:606812
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Cln3 Disease
T-wave inversion, Left ventricular hypertrophy, Cataract, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon OMIM:611773
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opaci... ORPHA:93400
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Idiopathic Congenital Hypothyroidism
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95717
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Thrombocytopenia... ORPHA:509
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Large for gestationa... ORPHA:226313
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Portal hypertension, Splen... ORPHA:309854
Warburg-Cinotti Syndrome
Decreased corneal thickness, Symblepharon, Limbal stem cell deficiency, Corneal neovascularization OMIM:618175
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Prolonged ... ORPHA:66634
Central Retinal Vein Occlusion
Retinal neovascularization, Abnormal anterior eye segment morphology, Intraretinal hemorrhage ORPHA:411527
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... ORPHA:2363
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Refsum Disease, Classic
Congestive heart failure, Cataract, Arrhythmia, Cardiomegaly, Cardiomyopathy OMIM:266500
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Proximal Myotonic Myopathy
Cataract ORPHA:606
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Co... OMIM:194380
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenome... ORPHA:231222
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Recurrent fever OMIM:201910
Pyruvate Kinase Deficiency Of Red Cells
Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane... OMIM:266200
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Prolonged QT interval, Hypertriglyceridemia, Bradycardia, Tachycardia, Atrial fibri... OMIM:613327
Waldenström Macroglobulinemia
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... ORPHA:33226
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis OMIM:300653
Immunodeficiency 32A
Fever OMIM:614893
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Cataract, Thrombocytopenia, Cardiomyopathy OMIM:222300
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... ORPHA:288
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... OMIM:192315
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... ORPHA:90674
Permanent Congenital Hypothyroidism
Hypothyroidism, Hypothermia, Goiter, Thyroid dysgenesis, Umbilical hernia ORPHA:226292
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... OMIM:264800
Leukocoria, Vitreous hemorrhage, Leukemia OMIM:180200
Familial Isolated Hypoparathyroidism
Cataract, Arrhythmia ORPHA:2238
Cocaine Intoxication
Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia... ORPHA:90068
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... ORPHA:231625
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly OMIM:611590
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Bruising susceptibility ORPHA:98791
Abnormal EKG, T-wave inversion, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, ... ORPHA:1666
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Extramedullary hematopoiesis, Decreased mean corpuscular hem... ORPHA:231226
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Fabry Disease
Angina pectoris, Hypertrophic cardiomyopathy, Hyperlipidemia, Corneal dystrophy, Transient ischem... ORPHA:324
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... OMIM:170390
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... ORPHA:508542
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarct... OMIM:274150
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Increased circulating free fatty acid level, ... ORPHA:71212
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization, Keratitis, Opacification of the corneal stroma, Recurre... OMIM:308205
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Schistocytosis, Hyperlipidemia,... OMIM:235400
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... OMIM:616878
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Reduced hematocrit, Anterior chamber flare, Normocytic anemia, Posterior syn... ORPHA:91500
Alport Syndrome 2, Autosomal Recessive
Hypertension, Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Dopamine Beta-Hydroxylase Deficiency
Anemia, Abnormal EKG, Syncope, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Granulomatosis With Polyangiitis
Conjunctivitis, Retinal hemorrhage, Granulomatosis, Diffuse alveolar hemorrhage, Localized pulmon... OMIM:608710
Leukocyte Adhesion Deficiency
Conjunctivitis, Acute myeloid leukemia, Impaired neutrophil chemotaxis, Abnormal bleeding, Polycy... ORPHA:2968
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal radioactive... ORPHA:226316
Primary Erythromelalgia
Hypothermia ORPHA:90026
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Cataract, Prolonged QT interval ORPHA:94089
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia OMIM:245400
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Rift Valley Fever
Retinal hemorrhage, Anemia, Abnormal bleeding, Gingival bleeding, Hematemesis, Thrombocytopenia, ... ORPHA:319251
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage OMIM:177850
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Persistence of hemoglobin F OMIM:619769
Riboflavin Deficiency
Hypothermia OMIM:615026
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... ORPHA:2330
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Fever OMIM:254450
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... ORPHA:758
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Hypothermia, Joint contracture OMIM:614498
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly... ORPHA:268
Beckwith-Wiedemann Syndrome