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 erythrocyte cell number Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 7.34×10-05
eye hemorrhage Ucp1m1H HOM Early adult 1.37×10-08
abnormal QT variability Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 1.63×10-06
increased erythrocyte cell number Ucp1m1H HOM   Early adult 9.62×10-06
decreased circulating triglyceride level Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 6.13×10-05
increased hematocrit Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 9.30×10-05
increased hemoglobin content Ucp1m1H HOM   Early adult 9.91×10-06
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
corneal vascularization Ucp1m1H HOM Early adult 2.54×10-07
cataract Ucp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.78×10-05
abnormal sinus arrhythmia Ucp1tm1b(EUCOMM)Hmgu HOM   Early adult 1.16×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Dorso Ventral

9 Images

Electrocardiogram (ECG)

Waveform Image

20 Images

Adult LacZ

LacZ Images Wholemount

9 Images


XRay Images Whole Body Lateral Orientation

8 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
Ragweed Sensitivity
Fever OMIM:179450
Immunodeficiency 108 With Autoinflammation
Recurrent fever, Fever OMIM:260570
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
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neuropathy, Painful
Fever OMIM:256870
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis, Abnormal bleeding ORPHA:90042
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Erythrocytosis, Familial, 2
Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... OMIM:263400
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Pontiac Fever
Fever ORPHA:99748
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Aniridia 3
Cataract OMIM:617142
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Cyclic Neutropenia
Fever OMIM:162800
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia OMIM:180080
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Tempi Syndrome
Polycythemia, Intracranial hemorrhage, Telangiectasia, Increased hematocrit ORPHA:284227
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Macrophagic Myofasciitis
Fever ORPHA:592
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... ORPHA:231401
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Anemia, Thrombocyto... ORPHA:88
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Corneal neovascularization, Hypereosinophilia, Punctate keratitis, Autoimmune hemol... OMIM:617388
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ca... OMIM:615184
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Fever ORPHA:3389
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Cataract, Abnormal heart valve morphology, Hypertension, Hypertro... ORPHA:1345
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Cataract OMIM:190330
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corn... OMIM:158310
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... ORPHA:398124
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Normochromic microcyt... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Cataract, Telangiectasia, Conj... OMIM:278730
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Increased mean co... ORPHA:90041
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Duodenal Neuroendocrine Tumor
Melena, Increased hematocrit, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricul... ORPHA:100076
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Galactosemia Iv
Cataract OMIM:618881
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Kaposiform Lymphangiomatosis
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Hepatosplenomegaly, Abnormal spleen mor... ORPHA:464329
Juvenile Xanthogranuloma
Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation, Hyphema ORPHA:158000
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Uveal Melanoma
Inferior lens subluxation, Vitreous hemorrhage, Iris melanoma, Zonular cataract, Ciliary body mel... ORPHA:39044
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, Cardiomyopathy ORPHA:67048
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... OMIM:300367
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Left ventricular diastolic dysfunction, Left ventric... ORPHA:57777
Galactosemia Ii
Cataract OMIM:230200
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Abcd Syndrome
Polycythemia OMIM:600501
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Hemochromatosis, Type 4
Anemia, Cataract, Cardiomyopathy, Arrhythmia OMIM:606069
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous h... ORPHA:99827
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... ORPHA:1067
Livedoid Vasculopathy
Telangiectasia of the skin, Leukocytosis, Polycythemia, Macular purpura, Ecchymosis, Pancytopenia... ORPHA:542643
Pulverulent cataract, Vitreous hemorrhage, Retinal neovascularization, Microcornea OMIM:193220
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Cataract OMIM:617228
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Corneal stromal edema, Anterior cha... ORPHA:209959
Exudative Vitreoretinopathy 4
Subcapsular cataract, Vitreous hemorrhage OMIM:601813
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic cardiomyopathy, Muscl... ORPHA:464321
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage,... ORPHA:340
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Catara... ORPHA:3449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract OMIM:615351
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Corneal opacity, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Re... OMIM:175780
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Cataract, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:225
Lujo Hemorrhagic Fever
Lymphopenia, Excessive bleeding after a venipuncture, Leukocytosis, Leukopenia, Myocarditis, Hypo... ORPHA:319213
Abnormal hemoglobin, Splenomegaly, Hypertrophic cardiomyopathy, Microcytic anemia, Anemia, Thromb... ORPHA:848
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... ORPHA:3093
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Primum atrial septal defect, Left-to-right shunt,... ORPHA:1329
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Abnormal mean cor... ORPHA:86839
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Exudative Vitreoretinopathy 1
Subcapsular cataract, Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Eales Disease
Vitreous hemorrhage, Peripheral retinal neovascularization, Iris neovascularization, Transient is... ORPHA:40923
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Marburg Hemorrhagic Fever
Pericarditis, Reticulocytosis, Abnormal bleeding, Tachycardia, Shock, Subconjunctival hemorrhage,... ORPHA:99826
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Kid Syndrome
Keratitis, Corneal neovascularization, Punctate keratitis, Corneal erosion, Limbal stem cell defi... ORPHA:477
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Conjunctivitis, Ventricular arrhythmia, Cataract, Prolonged Q... ORPHA:36913
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Cataract ORPHA:891
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Ventricular septal defect, Dilated cardiomyopathy,... ORPHA:26793
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Anemia, Thrombocytopenia, Pericardial effusion ORPHA:231111
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... ORPHA:54057
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Malignant Hyperthermia, Susceptibility To, 5
Fever OMIM:601887
Hypopyon, Vitreous hemorrhage, Leukocoria, Heterochromia iridis, Subretinal pigment epithelium he... ORPHA:790
Poems Syndrome
Polycythemia, Thrombocytosis, Pulmonary arterial hypertension, Pericardial effusion ORPHA:2905
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Pericardial effusion ORPHA:79126
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Cataract, Cardiomyopathy OMIM:301075
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia OMIM:217150
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Abnormal bleeding, Tachycardia, Anisopoikilocytosis, Macrocyti... ORPHA:35858
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Congenital Rubella Syndrome
Corneal opacity, Atrial septal defect, Splenomegaly, Thrombocytopenia, Ventricular septal defect,... ORPHA:290
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Von Hippel-Lindau Disease
Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Myocarditis, Myocardi... ORPHA:892
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy OMIM:614879
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... OMIM:235700
22Q11.2 Deletion Syndrome
Splenomegaly, Corneal neovascularization, Hypoplasia of the thymus, Posterior embryotoxon, Purpur... ORPHA:567
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:182900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Halothane Hepatitis
Fever OMIM:234350
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Corneal scarring, Prolonged prothrombin time, Splenomegaly ORPHA:404454
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185000
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Fumarase Deficiency
Polycythemia OMIM:606812
Hepatocellular Carcinoma
Budd-Chiari syndrome, Polycythemia, Hypotension, Thrombocytosis, Portal hypertension, Internal he... ORPHA:88673
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Secundum atrial ... OMIM:300855
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Increased circulating fr... ORPHA:2457
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Chronic hemolytic an... OMIM:210250
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Congenital Sialidosis Type 2
Corneal opacity, Hepatosplenomegaly, Cataract, Developmental cataract, Abnormal EKG, Telangiectas... ORPHA:93400
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Al Amyloidosis
Abnormal heart morphology, Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudicati... ORPHA:85443
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Acquired Methemoglobinemia
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Conjunctival hyperemia, Subcon... ORPHA:509
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Biventricular hyp... OMIM:255160
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... ORPHA:71275
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Decreased circulatin... ORPHA:95717
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... ORPHA:226313
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Hypertension ORPHA:1885
Refsum Disease, Classic
Arrhythmia, Cataract, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Retinitis Pigmentosa 84
Cataract OMIM:618220
Warburg-Cinotti Syndrome
Corneal neovascularization, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Portal hypertension, Hypertrophic cardiomyopathy, Prolonged prothromb... ORPHA:309854
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Hypochromic microcytic anemia, Dilated cardiomyopathy, Normoc... ORPHA:66634
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Retinal neovascularization ORPHA:411527
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... ORPHA:2363
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytosis, Eryt... OMIM:266200
Proximal Myotonic Myopathy
Cataract ORPHA:606
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Recurrent fever, Fever OMIM:201910
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Increased red cell hemolysis by shear stress, Increased mean corpuscular hemoglobin... OMIM:194380
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis OMIM:232800
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Cataract, Conjunctivitis ORPHA:94089
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Prolonged QT interval, Brad... OMIM:613327
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Decreased circulating T4 concentration,... ORPHA:90674
Hereditary Elliptocytosis
Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... ORPHA:288
Waldenström Macroglobulinemia
Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neutrophils, Ging... ORPHA:33226
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Myotonic Dystrophy 1
Atrial fibrillation, Cataract, First degree atrioventricular block, Atrial flutter OMIM:160900
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon OMIM:611773
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Wolfram Syndrome 1
Megaloblastic anemia, Thrombocytopenia, Cataract, Sideroblastic anemia, Cardiomyopathy OMIM:222300
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Gastrointestinal hemorrhage, Tela... OMIM:192315
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Leukemia, Vitreous hemorrhage, Leukocoria OMIM:180200
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Permanent Congenital Hypothyroidism
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter ORPHA:226292
Familial Isolated Hypoparathyroidism
Cataract, Arrhythmia ORPHA:2238
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Increased circulating cortisol level, Intracranial hemorrhage, Palpitations, Hyp... ORPHA:231625
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Bruising susceptibility ORPHA:98791
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:618892
Abnormality of the spleen, Situs inversus totalis, Dextrocardia, T-wave inversion, Abnormal EKG, ... ORPHA:1666
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneous hemolytic crises, ... ORPHA:822
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... ORPHA:508542
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Cataract, Abnormal myocardium morphology, Transient ... ORPHA:324
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Schistocytosis, Myocardial infarction, Microangiopathic hemolytic anem... OMIM:274150
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Iron deficiency anemia,... ORPHA:358
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... OMIM:170390
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytope... OMIM:235400
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval, Increased circulating... ORPHA:71212
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Iris nevus, Anterior chamber flare, Normocytic anemia, Cataract, Reduced hem... ORPHA:91500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Prolonged QTc interval, Ventricular tachycardia, Ventricular fibrillation, Hy... OMIM:616878
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Alport Syndrome 2, Autosomal Recessive
Hypertension, Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Mye... ORPHA:70591
Primary Erythromelalgia
Hypothermia ORPHA:90026
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG, Anemia ORPHA:230
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:226316
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... ORPHA:31826
Leukocyte Adhesion Deficiency
Leukocytosis, Polycythemia, Abnormal bleeding, Impaired neutrophil chemotaxis, Thrombocytosis, Ab... ORPHA:2968
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaire... ORPHA:90673
Granulomatosis With Polyangiitis
Keratitis, Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar h... OMIM:608710
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive OMIM:245400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Rift Valley Fever
Melena, Hematemesis, Abnormal bleeding, Retinal hemorrhage, Gingival bleeding, Anemia, Thrombocyt... ORPHA:319251
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Devel... OMIM:229310
Riboflavin Deficiency
Hypothermia OMIM:615026
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Caroli Disease, Isolated
Recurrent fever, Fever OMIM:600643
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Fever OMIM:254450
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Hereditary Leiomyomatosis And Renal Cell Cancer