Gene Summary

Name:
estrogen related receptor, alpha
Synonyms:
ERRalpha,  Nr3b1,  Estrra,  Err1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Esrratm1.1(KOMP)Vlcg HOM Early adult 2.08×10-11
increased mean corpuscular hemoglobin concentration Esrratm1.1(KOMP)Vlcg HOM   Early adult 5.89×10-05
increased grip strength Esrratm1.1(KOMP)Vlcg HOM   Early adult 1.73×10-05
increased circulating aspartate transaminase level Esrratm1.1(KOMP)Vlcg HOM Early adult 6.63×10-06
decreased vertical activity Esrratm1.1(KOMP)Vlcg HOM Early adult 5.88×10-06
shortened PQ interval Esrratm1.1(KOMP)Vlcg HOM Early adult 3.76×10-05
hyperactivity Esrratm1.1(KOMP)Vlcg HOM   Early adult 4.72×10-05
increased startle reflex Esrratm1.1(KOMP)Vlcg HOM   Early adult 4.24×10-05

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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Forepaw

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Esrra 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 Esrra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Abnormality ... OMIM:612840
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Retic... OMIM:611490
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Bone marrow hypocellularity, Recurrent fractures, Hip osteoarthritis... OMIM:166600
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemi... OMIM:259700
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly, Increased bone mineral density ORPHA:2204
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Increased bone mineral density, Hyperosto... OMIM:231095
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Osteopenia... ORPHA:231222
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Thickened cortex of bones, Joint stiffness ORPHA:564003
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal pelvis bone ossification, Increased bone mineral den... ORPHA:166119
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy... ORPHA:37748
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis OMIM:612301
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Hepatosplenomegaly, Osteopenia, Coronal craniosynostosis, Incom... ORPHA:313855
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Multiple joint contractures, Slender build ORPHA:352470
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Spina bifida occulta, Coarse ... ORPHA:2780
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Abnormal mitochondrial morphology, Decreased activity of mitochondrial complex IV OMIM:618378
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ... ORPHA:79303
Axial Osteomalacia
Polycystic liver disease, Increased bone mineral density, Osteomalacia OMIM:109130
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Tremor OMIM:615924
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... ORPHA:85451
Desmosterolosis
Osteopetrosis, Splenomegaly, Increased bone mineral density ORPHA:35107
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Hypokalemia, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Osteo... ORPHA:667
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Increased bone mineral density, Biliary tract obstruction, Osteopenia, ... ORPHA:77259
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Recurrent fractures, Hepatomegaly, Anemia,... ORPHA:2785
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Albers-Schönberg Osteopetrosis
Recurrent fractures, Osteoarthritis, Abnormal leukocyte morphology, Anemia, Generalized osteoscle... ORPHA:53
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Majeed Syndrome
Leukocytosis, Increased bone mineral density, Congenital hypoplastic anemia, Flexion contracture,... ORPHA:77297
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Elevated circulating ... OMIM:310200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nathalie Syndrome
Abnormal EKG OMIM:255990
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Transient hyperphenylalaninemia, Hyperactivity, Ataxia, Tremor OMIM:612716
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Limitation of joint mobility, Facial hypero... ORPHA:2658
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Lethargy OMIM:605899
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Joint stiffness, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:600081
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Tremor OMIM:300983
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mineral density, ... ORPHA:1782
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Tremor OMIM:619470
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormality of iron homeostasis, An... ORPHA:848
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Camurati-Engelmann Disease
Diaphyseal sclerosis, Bone marrow hypocellularity, Increased bone mineral density, Sclerosis of s... OMIM:131300
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Wide anterior fontanel, Osteopenia, Increased bone mineral density ORPHA:85184
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia ORPHA:1177
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Elevated circulating creat... OMIM:619040
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:264700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion ORPHA:91130
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Congestive heart failure, Hyperactivity, Broad-based gait, Tremor ORPHA:3077
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... ORPHA:94090
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal bone ossification, Delayed patellar ossification, Increased bone... ORPHA:163649
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysmetria, Increased serum pyruvate, Ataxia, Gait disturbance, Limb dysmetria ORPHA:94125
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... OMIM:300009
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Increased bone mineral density, Hip osteoarthritis, Limited wrist movem... ORPHA:93284
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Normochromic microcytic anemia, Congestive heart failure, Sudden cardiac ... OMIM:610198
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Vitamin D-Dependent Rickets, Type 2A
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, R... OMIM:277440
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Dystonia, Hyperactivity, Splenomegaly, Ataxia, Hypervalinemia, Elev... OMIM:615673
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Hypocalcemic Vitamin D-Dependent Rickets
Sparse bone trabeculae, Increased susceptibility to fractures, Osteomalacia, Thin bony cortex, De... ORPHA:289157
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Hepatomegaly, Increased susceptibilit... ORPHA:77261
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Hypertension, Hypertriglyceridemia, Tremor ORPHA:363400
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Leukemia, Increased susceptibility to fractures,... ORPHA:2909
Al Amyloidosis
Increased circulating troponin I concentration, Increased circulating NT-proBNP concentration, Ga... ORPHA:85443
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Inability to walk, Right bundle branch block, Elevated c... ORPHA:268
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone density with cystic changes, Increased bone mineral density ORPHA:94089
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Elevated circulating acylcarnitine concentration, Abnormal EKG, Ataxia, Ele... ORPHA:480864
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Increased bone mineral density, Osteoporosis, Ankylosis OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Anemia, Prolonged QT... ORPHA:398124
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Tremor OMIM:618718
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, D... OMIM:500013
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Neutropenia, Ane... ORPHA:221016
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypokalemia, Hypertension, Decreased circulating renin level, Palpitations, Intr... ORPHA:231625
Friedreich Ataxia
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Ata... OMIM:229300
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Neutropenia, Ane... ORPHA:221008
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Poems Syndrome
Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull base, Lymphade... ORPHA:2905
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density OMIM:127000
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Mitochondrial hypertrophy OMIM:619518
Pycnodysostosis
Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteo... ORPHA:763
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
12Q14 Microdeletion Syndrome
Osteopoikilosis, Abnormality of the spleen ORPHA:94063
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Acquired Methemoglobinemia
Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Polycythemia ORPHA:90042
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity, Ataxia OMIM:271980
Rett Syndrome
Abnormal T-wave, Dystonia, Gait apraxia, Gait ataxia, Truncal ataxia, Prolonged QTc interval OMIM:312750
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Cerebral hemorrhage, Hypercholesterolemia, ST segment dep... ORPHA:90065
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... ORPHA:230
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Hypoproteinemia, Ventricular tachycardia, Arrhy... ORPHA:26793
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... ORPHA:1652
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Erdheim-Chester Disease
Increased bone mineral density, Retroperitoneal fibrosis, Anemia, Osteomyelitis, Osteolysis ORPHA:35687
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia ORPHA:52503
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Stiff-Person Syndrome
Opisthotonus, Anemia, Hypertension, Exaggerated startle response, Tachycardia OMIM:184850
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Increased circulating NT-proBNP conc... ORPHA:466677
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... ORPHA:466650
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Dystonia ORPHA:500180
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Flexion contracture, Decreased activity of mitocho... ORPHA:17
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Hypotension, Athetosis, Limb dystonia, Lethargy, Limb tremor, E... OMIM:608643
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Action tremor, Dystonia, Normochromic microcytic anemia, Ataxia, Prolonge... ORPHA:66634
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Diamond-Blackfan Anemia 6
Mitral regurgitation, Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Trichothiodystrophy
Craniosynostosis, Osteopenia, Increased bone mineral density, Multiple joint contractures, Increa... ORPHA:33364
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Tooth abscess,... ORPHA:89936
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Increased C-peptide level, Hypertrophic cardiomyopathy, Mildly elevated c... ORPHA:71212
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Increased HDL chol... ORPHA:70591
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Hyperactivity, Splenomegaly, Atrial fibrillation, Hy... ORPHA:525731
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Congenital Sialidosis Type 2
Dysmetria, Hepatosplenomegaly, Abnormal EKG, Ataxia, Telangiectasia ORPHA:93400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Weight loss, Cachexia ORPHA:298
Graves Disease, Susceptibility To, 1
Hyperactivity, Congestive heart failure OMIM:275000
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Tarsal synostosis,... ORPHA:90652
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Peroxisome Biogenesis Disorder 2A (Zellweger)
Camptodactyly, Failure to thrive, Abnormality of the mitochondrion, Joint contracture of the hand OMIM:214110
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Tremor, Elevated ci... ORPHA:90068
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Dysdiadochokinesis OMIM:610217
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Werner Syndrome
Osteoporosis, Increased bone mineral density, Joint stiffness ORPHA:902
Tay-Sachs Disease
Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inability to walk, Laryngeal dystonia, ... ORPHA:845
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Ventricular fibrillation, Shortened P... ORPHA:79102
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prom... OMIM:170390
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Shoulder flexion contracture, Flex... ORPHA:800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, Palp... ORPHA:358
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Increased bone mineral density, Hyperostosis ... ORPHA:79443
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Hypertension, Increased LDL cholesterol concentration, A... ORPHA:330015
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Abnormal circulating fatty... ORPHA:139396
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dextrocardia
T-wave inversion, Abnormal EKG, Abnormality of the spleen ORPHA:1666
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Hyperlysinemia
Hyperlysinemia, Dysmetria, Opisthotonus, Hyperactivity, Tip-toe gait, Hypoornithinemia, Hyperammo... ORPHA:2203
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Ataxia, Exaggerated startle response OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Pulmonic stenosis, Ex... OMIM:253800
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Arrhythmia, Ataxia, Cardiac conduction abnormality, Cardiomyopathy, Tr... ORPHA:2131
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Friedreich Ataxia And Congenital Glaucoma
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Ata... OMIM:229310
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Hyperactivity, Bradykinesia, Akinesia, Ataxia, Acanthocytosis, Gait dist... OMIM:234200
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Atypical Werner Syndrome
Hepatic steatosis, Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolyt... ORPHA:79474
Friedreich Ataxia 2
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Ataxia, Concentric hypertrophic ... OMIM:601992
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Legius Syndrome
Dystonia, Hyperactivity, Pulmonic stenosis, Acute monocytic leukemia, Paroxysmal atrial tachycard... ORPHA:137605
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Argininemia
Hyperargininemia, Hyperactivity, Spastic gait, Hyperammonemia OMIM:207800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Ataxia, Steppage gait, Concentri... OMIM:302900
Choreoacanthocytosis
Dilated cardiomyopathy, Resting tremor, Lingual dystonia, Blepharospasm, Hyperactivity, Bradykine... ORPHA:2388
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Hyperekplexia 1
Exaggerated startle response OMIM:149400
African Trypanosomiasis
Second degree atrioventricular block, Hepatosplenomegaly, Arrhythmia, Congestive heart failure, A... ORPHA:3385
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Thickened cortex of long bones, Increased density of long bones, Sclerosis of sku... OMIM:269150
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle response ORPHA:79255
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia, Dystonia OMIM:241080
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity OMIM:277400
Glycine Encephalopathy With Normal Serum Glycine