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
abnormal QT variability Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 1.32×10-06
increased hemoglobin content Ucp1m1H HOM   Early adult 9.91×10-06
increased erythrocyte cell number Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 7.33×10-05
decreased circulating triglyceride level Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 6.02×10-05
increased erythrocyte cell number Ucp1m1H HOM   Early adult 9.62×10-06
thick ventricular wall Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 3.36×10-05
abnormal lens morphology Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 5.05×10-05
eye hemorrhage Ucp1m1H HOM Early adult 1.37×10-08
corneal vascularization Ucp1m1H HOM Early adult 2.54×10-07
abnormal sinus arrhythmia Ucp1tm1b(EUCOMM)Hmgu HOM Early adult 1.42×10-05
decreased circulating iron level Ucp1m1H HOM Early adult 1.50×10-05

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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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
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


XRay Images Whole Body Lateral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

20 Images

Adult LacZ

LacZ Images Wholemount

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
Ragweed Sensitivity
Fever OMIM:179450
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Recurrent fever, Fever OMIM:260570
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Neuropathy, Painful
Fever OMIM:256870
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombocytopenia ORPHA:231393
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Primary Familial Polycythemia
Polycythemia, Abnormal bleeding, Epistaxis, Abnormal hemoglobin ORPHA:90042
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pontiac Fever
Fever ORPHA:99748
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Ret... OMIM:613673
Macrophagic Myofasciitis
Fever ORPHA:592
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia, Saccular conjunctival dilatations OMIM:180080
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Splenomegaly, Hypereosinophilia, Elevated circula... OMIM:617388
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Tempi Syndrome
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit ORPHA:284227
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Cyclic Neutropenia
Fever OMIM:162800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhag... ORPHA:98870
Fever ORPHA:3389
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, T... ORPHA:88
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Jervell And Lange-Nielsen Syndrome
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... ORPHA:90647
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... ORPHA:1055
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Abnormal heart morp... ORPHA:398124
Hemochromatosis, Type 2B
Increased serum iron, Anemia, Elevated transferrin saturation, Cardiomyopathy, Splenomegaly, Incr... OMIM:613313
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Cornea... OMIM:158310
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... ORPHA:57777
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Periodic fever, Fever OMIM:617772
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Spleno... ORPHA:848
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Keratitis, Cataract, Corneal neovascularization, Conj... OMIM:278730
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Incre... OMIM:604250
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Kerion Celsi
Fever ORPHA:499
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Anemia, Abnormal spleen m... ORPHA:464329
Livedoid Vasculopathy
Ecchymosis, Leukocytosis, Hyperhomocystinemia, Hypertension, Ischemic stroke, Macular purpura, Po... ORPHA:542643
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Abnormal circul... ORPHA:86839
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Ecchymosis, Hypertension, Intracranial hemorrhage, Shock, Petechiae, ... ORPHA:340
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Ventricular septal hypertrophy, C... ORPHA:263297
Juvenile Xanthogranuloma
Myeloproliferative disorder, Asymmetry of iris pigmentation, Iritis, Hyphema ORPHA:158000
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Pancytopenia, Diffuse alveolar hemorrhage... ORPHA:99827
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Hem... ORPHA:91495
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract OMIM:133780
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin t... ORPHA:99826
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... ORPHA:75565
Uveal Melanoma
Mydriasis, Zonular cataract, Vitreous hemorrhage, Iris melanoma, Inferior lens subluxation, Cilia... ORPHA:39044
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval, Increased circulatin... OMIM:619040
Hemochromatosis, Type 4
Anemia, Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferritin concentra... OMIM:606069
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Complete Atrioventricular Septal Defect
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... ORPHA:1329
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Syncope, Hypertension, ST segment depression, Prolonged QTc in... ORPHA:90065
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Decreased circulating ferritin concentration, Polycythemia, Prolonge... ORPHA:309854
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hyperbilirubinemia, Me... ORPHA:464321
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Ecchymosis, Shock, Leukopenia, Subconjunctival hemorrhage, Bradycardia... ORPHA:319213
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulat... OMIM:175780
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Microcornea, Retinal neovascularization, Vitreous hemorrhage, Pulverulent cataract OMIM:193220
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Budd-Chiari syndrome, Polycythemia, Ane... ORPHA:88673
Phacoanaphylactic Uveitis
Retinal arteritis, Conjunctival hyperemia, Hypopyon, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, Biventricular ... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Glucocortocoid-insensiti... ORPHA:251274
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Exudative Vitreoretinopathy 4
Subcapsular cataract, Vitreous hemorrhage OMIM:601813
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia OMIM:217150
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Reticulocyt... ORPHA:54057
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Iris neovascularization, Transient ischemic att... ORPHA:40923
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract OMIM:615351
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Hemochromatosis, Type 2A
Increased serum iron, Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Increased circulating... OMIM:602390
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... OMIM:616278
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Vitreous hemorrhage, Cataract, Macular telangiectasia ORPHA:891
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... ORPHA:1686
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Cataract, Abnormal left ventricular function, Conj... ORPHA:36913
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Anemia, Thrombocytopenia ORPHA:231111
Hemochromatosis Type 2
Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost... ORPHA:79230
Kid Syndrome
Keratoconjunctivitis sicca, Corneal erosion, Limbal stem cell deficiency, Punctate keratitis, Ker... ORPHA:477
Malignant Hyperthermia, Susceptibility To, 5
Fever OMIM:601887
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyce... OMIM:232800
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Hypopyon, Subretinal pigment epithelium hemorrhage, Leukemia, Heterochromia iridis, Vitreous hemo... ORPHA:790
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... OMIM:231100
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Corneal scarring, Splenomegaly, Hypotriglyceridemia, Decreased LDL ch... ORPHA:404454
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Naegeli-Franceschetti-Jadassohn Syndrome
Heat intolerance OMIM:161000
22Q11.2 Deletion Syndrome
Posterior embryotoxon, Hypoplasia of the thymus, Hypertensive crisis, Splenomegaly, Gastrointesti... ORPHA:567
Poems Syndrome
Polycythemia, Thrombocytosis, Pulmonary arterial hypertension, Pericardial effusion ORPHA:2905
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Abnormal hea... ORPHA:85443
Halothane Hepatitis
Fever OMIM:234350
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Polycythemia, Palpitations, Cardiomyopathy, Myocardial infarction, Abn... ORPHA:892
Conjunctival hyperemia, Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Pulmonary hem... ORPHA:509
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... ORPHA:288
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration OMIM:121270
Osteopetrosis, Autosomal Recessive 4
Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Reticulo... OMIM:618892
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Increased circulating ferritin concen... OMIM:194380
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Reduced intrat... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Splenomegaly, Hypertriglyce... OMIM:613327
Immunodeficiency 32B
Fever OMIM:226990
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, U... ORPHA:95717
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Congenital Sialidosis Type 2
Telangiectasia, Developmental cataract, Abnormal heart morphology, Hepatosplenomegaly, Corneal op... ORPHA:93400
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron OMIM:604290
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Decreased corneal sensation, Recurrent corneal erosions, Limbal stem ... ORPHA:2363
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Hypothermia, Decreased circulating T4 level, Large for gestati... ORPHA:226313
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circula... OMIM:235400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Increased circulating corti... ORPHA:231625
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Hypochromic microcytic anemia, Normochromic microc... ORPHA:66634
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Recurrent fever, Fever OMIM:201910
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persisten... ORPHA:231226
Warburg-Cinotti Syndrome
Symblepharon, Decreased corneal thickness, Corneal neovascularization, Limbal stem cell deficiency OMIM:618175
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Beta-Thalassemia Major
Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcy... ORPHA:231214
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Caffey Disease
Fever OMIM:114000
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Hypothermia, Increased radioactive iodine uptake, Thyroid defe... ORPHA:95716
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, M... OMIM:618620
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Focal Myositis
Fever ORPHA:48918
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations OMIM:170390
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization, Abnormal anterior eye segment morphology ORPHA:411527
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Cataract, Conjunctivitis ORPHA:94089
Cocaine Intoxication
Mydriasis, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tach... ORPHA:90068
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Hypothermia, Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidism, Decreased t... ORPHA:90674
Hereditary Spherocytosis
Restrictive cardiomyopathy, Anemia, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesi... ORPHA:822
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Wells Syndrome
Fever ORPHA:901
Waldenström Macroglobulinemia
Normocytic anemia, Gingival bleeding, Leukemia, Epistaxis, Splenomegaly, Gastrointestinal hemorrh... ORPHA:33226
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia ORPHA:713
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Dextrocardia, Abnormality of the spleen, Abnormal heart morphology, Situs inversus totalis, Abnor... ORPHA:1666
Permanent Congenital Hypothyroidism
Goiter, Hypothermia, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia ORPHA:226292
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Malignant Hyperthermia, Susceptibility To, 2
Fever, Malignant hyperthermia OMIM:154275
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Increased circulating... ORPHA:71212
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
Leukemia, Vitreous hemorrhage, Leukocoria OMIM:180200
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Hyperphosphatemia, Polyuria, And Seizures
Fever OMIM:239350
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Primary ... ORPHA:358
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Bruising susceptibility ORPHA:98791
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Bradycardia, Congestive heart failure, S... OMIM:261740
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Retinal hemorrhage OMIM:615368
Hemochromatosis, Type 1
Increased serum iron, Telangiectasia, Cardiomyopathy, Splenomegaly, Increased circulating ferriti... OMIM:235200
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Vasculitis in the skin, Raynaud phenomenon, Punctate vasculitis skin lesions, Ret... OMIM:192315
Histiocytoid Cardiomyopathy
Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atri... ORPHA:137675
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Mus... OMIM:229310
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Right bundle branch block... ORPHA:268
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hypertension, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid h... ORPHA:447
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Elevated jugular venous pressure, Elevated transferrin saturatio... ORPHA:465508
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hypertension, Unconjugated hyperbilirubinemia, Schistocytosis, Microa... ORPHA:90038
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Abnormal bleeding, Acute myeloid leukemia, Abnormalit... ORPHA:2968
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Orthostatic syncope, Anemia, Abnormal EKG ORPHA:230
Primary Erythromelalgia
Hypothermia ORPHA:90026
Genetic Transient Congenital Hypothyroidism
Goiter, Hypothermia, Thyroid hypoplasia, Thyroid defect in oxidation and organification of iodide... ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Hypothermia, Thyr... ORPHA:90673
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia OMIM:245400
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Elevated circulating creatinine conce... ORPHA:91500
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Caroli Disease, Isolated
Recurrent fever, Fever OMIM:600643
Granulomatosis With Polyangiitis
Retinal hemorrhage, Keratitis, Diffuse alveolar hemorrhage, Granulomatosis, Localized pulmonary h... OMIM:608710
Fever OMIM:254450
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Thrombocy... ORPHA:466650
Rift Valley Fever
Gingival bleeding, Anemia, Melena, Abnormal bleeding, Thrombocytopenia, Hematemesis, Retinal hemo... ORPHA:319251
Beckwith-Wiedemann Syndrome
Polycythemia, Elevated alpha-fetoprotein, Hypertrophic cardiomyopathy, Splenomegaly ORPHA:116
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Palpitations, Shortened PR interval, Second degree atrioventricular block,... ORPHA:79102
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Restrictive cardiomyopathy, Telangiectasia of the skin, Gastrointe... ORPHA:758
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic h... ORPHA:226307
Menkes Disease
Hypothermia OMIM:309400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Scorpion Envenomation
Mydriasis, Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Cardia... ORPHA:466677
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Prolonged prothrombin time... ORPHA:2330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Joubert Syndrome 35
Abnormality of temperature regulation OMIM:618161
Congenital Hypothyroidism
Goiter, Hypothermia, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism, Hy... ORPHA:442
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Muscular subvalvular aortic sten... OMIM:601992
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Corneal scarring, Increased circulatin... ORPHA:101330
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Cataract, Band keratopathy, Conjunctivitis ORPHA:79443
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Cataract, Conjunctivitis ORPHA:79444
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Incontinentia Pigmenti
Pulmonary arterial hypertension, Telangiectasia of the skin, Cerebral ischemia, Keratitis, Cornea... ORPHA:464
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Axenfeld anomaly, Pulmonic stenosis, Iris atrophy, Abnormal pupil morphology, Iris colo... ORPHA:261552
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Decreased HDL choleste... ORPHA:330015
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp... ORPHA:79277
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Keratoconjunctivitis sicca, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LD... ORPHA:14
Developmental cataract, Intracranial hemorrhage, Prolonged QT interval, Anemia, Astigmatism ORPHA:86309
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Incontinentia Pigmenti
Leukocytosis, Keratitis, Cataract, Eosinophilia, Retinal hemorrhage OMIM:308300
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Obesity, Hip contracture, Elbow flexion contracture OMIM:618493
Simpson-Golabi-Behmel Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomyopathy, Bundle branch block, Splenomega... ORPHA:373
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypothermia OMIM:251880
Familial Drusen
Macular hemorrhage ORPHA:75376
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Bicuspid aortic valve, Tachycardia, Developmental glaucoma ORPHA:1772
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyperlipidemia, Hypothermia, Premature adrenarche, Abnormality of the hyp... ORPHA:293987
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Abnormal T-wave, Mitral valve prolapse, Cataract ORPHA:444072
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Spleno... ORPHA:90324
Pearson Syndrome
Neutropenia, Hypokalemia, Cardiac conduction abnormality, Corneal stromal edema, Anemia, Hypophos... ORPHA:699
Alternating Hemiplegia Of Childhood
Mydriasis, Abnormal T-wave, Cardiac conduction abnormality, Cardiomyopathy, Arrhythmia ORPHA:2131
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Abnormality of circulating cortis... ORPHA:3385
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia OMIM:618775
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Muscular subvalvular aortic sten... OMIM:302900
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Turner Syndrome Due To Structural X Chromosome Anomalies