Gene Summary

Name:
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Synonyms:
SERCA2,  SERCA2B,  D5Wsu150e,  Serca2a,  9530097L16Rik,  sarco/endoplasmic reticulum Ca2+-ATPase 2

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 fasting circulating glucose level Atp2a2tm1b(EUCOMM)Hmgu HET Early adult 2.14×10-06
preweaning lethality, complete penetrance Atp2a2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating alkaline phosphatase level Atp2a2tm1b(EUCOMM)Hmgu HET Early adult 2.84×10-05
decreased mean platelet volume Atp2a2tm1b(EUCOMM)Hmgu HET Early adult 9.20×10-12

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

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)
bone 0.0%
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)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 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%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
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)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 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)
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)
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)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
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 Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Atp2a2 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.

The table below shows human diseases associated to Atp2a2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atp2a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... ORPHA:217607
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Bradykinesia, Ataxia, Death in childhood, Lethargy OMIM:618683
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Right ventricular dilatation, Heart murmur, Palpitations, Elevated jugular... ORPHA:422
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Loeffler Endocarditis
Left atrial enlargement, Fatigue, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Abno... ORPHA:75566
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Cardiomyopathy, Left ventricular hypertrophy, Sudden death, Arrhythmia OMIM:614676
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, M... ORPHA:171442
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Dystonia, Ataxia, Spasticity OMIM:614458
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Fatigue, Anomalous pulmonary venous return, ... ORPHA:99105
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, Elevated circulating creatine kinase concentratio... OMIM:619040
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Global systo... ORPHA:57777
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Coarctation of aorta, Hyperbilirubinemia, Pulmonic st... OMIM:614300
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy, Cryptorchidism OMIM:226000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Abnormal heart morphology, Atrial septal defect OMIM:617744
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Myopathy, Pericardial effusion, Ascites, Vent... OMIM:115197
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Paresthesia, Elevated circulating creat... ORPHA:254886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Mitral valve prolapse, Impaired distal proprioception, Rigidity, Mitral... OMIM:258450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Telangiectasia, Biventricular hypertrophy, Coarctat... ORPHA:101028
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Lef... ORPHA:93952
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Bradyc... OMIM:619048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Elevated ci... OMIM:253700
Schöpf-Schulz-Passarge Syndrome
Facial telangiectasia, Ovarian neoplasm, Hypodontia, Sparse hair, Basal cell carcinoma, Alopecia,... ORPHA:50944
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Multiple myeloma, Weight loss, Oliguria, Arrhythmia, Pulmonary edema, ... ORPHA:188
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy, Chest pain OMIM:613874
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Fatigue, Abnormally loud pulmonic component ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscl... ORPHA:171439
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiom... OMIM:617713
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Right ventricular dilatation, Chorea, Myalgia, Hyperkinetic movements, Limb-girdle musc... ORPHA:369847
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Sudden death, Congesti... OMIM:601494
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Babinski sign, Nonketotic hyperglycinemia, Myoclonus, Spastic dysarthria,... ORPHA:401866
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... ORPHA:86812
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Poor coordination, Abnormal heart morphology, Total anomalous pulmonar... ORPHA:261183
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Slender build, Neopl... ORPHA:902
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradyca... OMIM:261740
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Abnormal renal physiology, Splenomegaly, Increased circulating ferr... ORPHA:158057
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia, Hyperalaninemia, Left ventricular hypertrophy, Hypertonia OMIM:614654
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Distal 7Q11.23 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Malabsorptio... ORPHA:225
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Basal cell carcinoma, Palmoplantar keratoderma, Neoplasm of the skeletal system, ... ORPHA:79501
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Obesity, Ventricular septal hypertrophy, Tremor, Ataxia, Incoordinatio... OMIM:614947
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive, Hyperalaninemia OMIM:616974
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Endocardial Fibroelastosis
Abnormal palate morphology, Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive he... ORPHA:2022
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Carvajal Syndrome
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Congestive heart failure, Woolly hair ORPHA:65282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Elevated circulating creatine kinase concentration, Fa... OMIM:613156
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Increased serum iron, Azoospermia, Hypogonadotropic hypogon... OMIM:602390
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Atrial fibrillation,... ORPHA:75249
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Endocardial fibroelastosi... OMIM:212140
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Small for gestational age, Elevated circulating creatinine concentration, Left vent... OMIM:616733
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Ascites, Failure to thrive, Hydrops fetalis, Cardi... OMIM:269920
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Dystonia, Mitral regurgitation, Neonatal death, Myoclonus, ... OMIM:619167
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart,... OMIM:301022
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnorma... OMIM:618654
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... ORPHA:100984
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Babinski sign, Skeletal muscle atrophy, Noncompaction cardiomyopathy... ORPHA:3208
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypertension, Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Decre... OMIM:615474
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Impaired temperature sensation, Impaired p... OMIM:205400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Dystonia, Myopathy, Failure to thrive, Cardiomyopathy, Elevated circulatin... ORPHA:26792
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... ORPHA:3287
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... ORPHA:99050
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Hemiparesis, Left ventricular hypertrophy, Cong... OMIM:540000
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Long philtrum, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyp... OMIM:615225
Ethylene Glycol Poisoning
Confusion, Renal tubular dysfunction, Gastritis, Cerebral edema, Pulmonary edema, Hypertension, H... ORPHA:31826
Hypermanganesemia With Dystonia 2
Gait disturbance, Dystonia, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Hypomimic f... OMIM:300423
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly, Ataxia, Congestive heart failure, Recurrent respir... ORPHA:796
Schopf-Schulz-Passarge Syndrome
Hypodontia, Apocrine hidrocystoma, Basal cell carcinoma, Palmoplantar keratoderma, Squamous cell ... OMIM:224750
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Failure to thrive, ... OMIM:615355
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Myopathy, Failure to thrive, Facial palsy, Cardiomyopathy, Flexion contrac... OMIM:201470
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced ejection fraction, Aortic valve prolapse, Abnormal coronary... ORPHA:99094
Cronkhite-Canada Syndrome
Lymphedema, Hepatomegaly, Cachexia, Stomach cancer, Dystrophic fingernails, Dystrophic toenail, P... ORPHA:2930
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Carious teeth, Dysphagia, Hypoalbuminemia, Skeletal muscle atrophy, Failu... ORPHA:89842
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Elevated circul... ORPHA:42
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Palmoplantar keratoderma, Cardiomyocyte h... OMIM:605676
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... ORPHA:391411
Histiocytoid Cardiomyopathy
Cleft palate, Pulmonary edema, Loss of consciousness, Shortened PR interval, Junctional ectopic t... ORPHA:137675
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Double outlet right ventricle, ... ORPHA:3426
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Coarctation of aorta, Pulmonary arterial hypertensio... OMIM:614857
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Bradykinesia, Shuffling gait, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Telangiectasia, Hepatocellular carcinoma,... OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... OMIM:601127
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Hyperphenylalaninem... OMIM:261640
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion ... ORPHA:157973
Trichothiodystrophy 1, Photosensitive
Fine hair, Telangiectasia, Tiger tail banding, Small for gestational age, Brittle hair, Basal cel... OMIM:601675
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis, Bone pain OMIM:616833
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Drowsiness, Palpitations, Tachycardia, Large ... ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Failure to thrive, Congestive heart failure OMIM:618234
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Small for gestational age, Failure to th... OMIM:606003
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... ORPHA:1120
Cirrhosis, Familial
Hypertension, Esophageal varix, Increased level of L-fucose in urine, Increased level of propylen... OMIM:215600
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Hypera... DECIPHER:39
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypomimic face, Hypertonia, Generalized dystonia, Parkinso... OMIM:618824
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Failure to thrive in infancy, Skeletal myopathy, Frequent falls, Mitral regurgitat... ORPHA:746
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Distal sensory impairment,... OMIM:617225
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypotension, Myoc... ORPHA:97355
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure, Neoplasm ORPHA:132
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Failure to thrive OMIM:615440
Recurrent Respiratory Papillomatosis
Syncope, Dysphagia, Failure to thrive, Recurrent upper respiratory tract infections, Squamous cel... ORPHA:60032
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Decreased urine output, Reduced ejection fraction, Elevated circulating creatinine con... ORPHA:542323
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... ORPHA:248111
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia,... OMIM:612953
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romberg sign, Intention ... OMIM:607136
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Drowsiness, Palpitations, Tachycardia, Large ... ORPHA:276575
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Decreased muscle mass, Cholang... ORPHA:465508
Mulibrey Nanism
Hepatomegaly, Hypodontia, Pericardial constriction, Ascites, Microglossia, Cardiomegaly, Recurren... OMIM:253250
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Hypercalcemia, Infantile, 1
Thick lower lip vermilion, Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Pul... OMIM:143880
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, High palate, Scapuloperoneal amyotrophy, Ele... OMIM:255160
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Fatigue, Transien... ORPHA:99103
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Skeletal myopathy, Failure... OMIM:302060
Polymyositis
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal muscle fiber morpholo... ORPHA:732
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Fatigue, Hemiplegia, Abnormal... ORPHA:1344
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ragged-red muscle fibers, ... ORPHA:1349
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Hypomimic face, Resting tremor, Parkinsonism, G... ORPHA:71517
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... OMIM:608978
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Failure to thrive OMIM:618228
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Xeroderma Pigmentosum Variant
Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Huntington Disease
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Abnormal c... ORPHA:399
Rothmund-Thomson Syndrome Type 1
Carious teeth, Neoplasm of the skin, Functional abnormality of the gastrointestinal tract, Leukem... ORPHA:221008
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Abnormal reproductive system morphology, Abnormal heart m... ORPHA:70472
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL c... OMIM:615703
Naxos Disease
Paroxysmal ventricular tachycardia, Acanthosis nigricans, Cleft upper lip, Palmoplantar keratoder... ORPHA:34217
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Congestiv... ORPHA:615
Myofibrillar Myopathy 11
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... OMIM:619178
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... ORPHA:2198
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Gingival bleeding, Right ventricular hypertrophy, Volvulus, Tachycardia... ORPHA:335
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Anonychia With Flexural Pigmentation
Carious teeth, Alopecia of scalp, Abnormal hair morphology, Macular telangiectasia, Follicular hy... ORPHA:69125
Cocaine Intoxication
Tubulointerstitial nephritis, Ventricular arrhythmia, Pulmonary edema, Reduced consciousness/conf... ORPHA:90068
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Drowsiness, Palpitations, Tachycardia, Large ... ORPHA:276580
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Ataxia, Congestive heart failure, Ichthyosis, Abnormality of th... ORPHA:66631
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Patent ductus ar... OMIM:612863
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Distal sensory impairment, Myoc... OMIM:606693
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Limb pain, Bradykinesia, ... OMIM:612067
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Squamous cell carcinoma, Palmoplantar keratoderma OMIM:618373
Non-Involuting Congenital Hemangioma
Midfrontal capillary hemangioma, Visceral hemangioma, Hemangioma, Telangiectasia of the skin, Con... ORPHA:141179
Mogs-Cdg
Hepatomegaly, Dystonia, High palate, Hirsutism, Edema, External genital hypoplasia, Cardiomegaly,... ORPHA:79330
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Cardiomyopathy, Elevated transferrin saturation, Splenomegaly... OMIM:613313
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Dysphagia, Myopathy, Skeletal muscle atroph... ORPHA:206569
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Drowsiness, Myelodysplasia, Failure to thrive, Hyperglutaminemia, Cerebral ischemia... ORPHA:927
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Obesity, Spastic gait, Facial hypotonia, Bradykinesia, ... OMIM:300055
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Porokeratosis ORPHA:79152
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypomimic face, Hy... ORPHA:238455
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Pulmonary capillary hemangiomatosis, Interlobula... ORPHA:199241
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Cardi... ORPHA:2394
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Cardiomyopathy, Lethargy ORPHA:254857
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Hypospadias, Wide mouth, Short philtrum, Abnormal aort... ORPHA:1194
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Gait disturbance, Dystonia, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macroglossia, Elevated circulating ... ORPHA:308552
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma, Hyperkeratosis lenticularis perstans ORPHA:409
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Ventricular arrhythmia, Quadriceps muscle weakness, Fatigue, Lethargy, Ga... ORPHA:254892
Warty Dyskeratoma
Neoplasm of the tongue, Acantholysis, Abnormality of the alveolar ridges, Abnormal hard palate mo... ORPHA:69745
Rapidly Involuting Congenital Hemangioma
Midfrontal capillary hemangioma, Visceral hemangioma, Hemangioma, Telangiectasia of the skin, Con... ORPHA:141184
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Hemochromatosis, Type 4
Hepatomegaly, Elevated transferrin saturation, Cardiomyopathy, Arthralgia, Increased circulating ... OMIM:606069
Erythrokeratoderma ''En Cocardes''
Neoplasm of the skin, Neoplasm, Hyperkeratosis ORPHA:315
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Hepatomegaly, Failure to thrive in infancy, Pulmonary arterial hypertension, Long eyela... OMIM:619064
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Fatigue, Vascular dila... ORPHA:99095
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Anal canal squamous carcinoma, Verrucae, Recurrent respiratory infections, Squamous ce... ORPHA:217390
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Benign neoplasm of the central nervous system, Hamartoma of tongue, Subvalvular a... ORPHA:1338
Hemochromatosis, Type 3
Increased serum iron, Amenorrhea, Hypogonadotropic hypogonadism, Elevated transferrin saturation,... OMIM:604250
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyelashes, Squamou... OMIM:602540
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Syncope, Drowsiness, Small for gestational age, Palpitations, Tachycardia, Large fo... ORPHA:324575
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Dehydration, Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperammone... ORPHA:79312
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of iron homeostasis, Elevated transferrin saturation, Hypogon... ORPHA:79230
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Hypomimic face, Unsteady gait, Parkinsonism OMIM:128235
Hereditary Acrokeratotic Poikiloderma
Dystrophic toenail, Ichthyosis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Gingival bl... ORPHA:2907
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Nail dystrophy, Alopecia, Malabsor... OMIM:175500
Infant Acute Respiratory Distress Syndrome
Pneumonia, Tachycardia, Bradycardia, Respiratory tract infection, Pulmonary edema, Cardiac arrest... ORPHA:70587
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Clumsiness, Gait disturbance, Babinski sign, Limb muscle weakness, Dysesthesia, Cardiomegaly, Car... OMIM:619259
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Pulmonary edema, Chro... ORPHA:340
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Parkinsonism, Babinski sign, Hypertension, Rigidity, Torticollis, Abnormality of... ORPHA:98808
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Pyloric stenosis, Bifid scrotum, Delayed eruption of teeth, Cleft lip, Penoscrotal t... OMIM:619148
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine ki... OMIM:614921
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Squamous cell carcinoma OMIM:613736
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Dysphagia, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, H... ORPHA:97229
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Ventricular septal defect, Spasticity OMIM:616277
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Hypospadias, Prolonged QT interval, Noncompaction cardiomyopathy, Glutari... OMIM:610198
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hemangioma, Hematuria, Abnormal tricuspid valve morphology, Edema, Gastroi... ORPHA:90308
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Rothmund-Thomson Syndrome
Carious teeth, Neoplasm of the skin, Sparse eyelashes, Leukemia, Basal cell carcinoma, Abnormal d... ORPHA:2909
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Smooth philtrum, Mitral valve prolapse, Mitral regurgitation, Steppage gait, Card... ORPHA:324410
Refsum Disease, Classic
Limb muscle weakness, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Ataxia, Congestive... OMIM:266500
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, EMG: myopathic ... OMIM:609286
Diencephalic Syndrome
Cachexia, Long penis, Everted lower lip vermilion, Neoplasm of the nervous system, Decreased body... ORPHA:1672
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma, Neoplasm ORPHA:1221
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Stereotypy, Atrial septal defect, Attention ... OMIM:617044
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Death in childhood, Elevated circulating creati... OMIM:613153
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal left ventricular funct... ORPHA:70591
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Camptodactyly OMIM:616145
Multiple System Atrophy
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:102
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios OMIM:616794
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Rigidity, Steppage gait, Abnormality of ... OMIM:613280
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption, Ataxia OMIM:613662
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Abnormal gastric mucosa morphology, Helicobacter pylori infectio... ORPHA:2494
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Highly arched eyebrow, Decreased muscle mass, Wide mouth, Nephrocalcinosis, Failure to thrive, Fa... ORPHA:500533
Necrobiosis Lipoidica
Telangiectasia of the skin, Squamous cell carcinoma ORPHA:542592
Classic Multiminicore Myopathy
Right ventricular failure, High palate, Mitral valve prolapse, Increased muscle lipid content, We... ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinas... OMIM:619386
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Failure to thrive, Left ventricular h... ORPHA:444013
Catel-Manzke Syndrome
Failure to thrive, Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Dystonia, Ataxia, Lethargy OMIM:246900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Splenomegaly, Portal hypertension... ORPHA:309854
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hyperammonemia, Lethargy, Ventricular septal defect, Atrial septal defect... ORPHA:26793
Mantle Cell Lymphoma
Weight loss, Fatigue, Splenomegaly ORPHA:52416
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Acanthosis nigricans, H... ORPHA:528
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Nonimmune hydrops fetalis, Skeletal muscle atroph... ORPHA:367
Pituitary Adenoma 1, Multiple Types
Hypertension, Pituitary growth hormone cell adenoma, Cardiomyopathy, Left ventricular hypertrophy... OMIM:102200
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Failure to thrive in infancy, Hydronephrosis, Cleft palate, High palate, Smooth phil... OMIM:611209
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Abnormal blood ion concentration, Urinary retention, Nail dystrophy, Rena... ORPHA:79404
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Microglossia, Intestinal malrotatio... OMIM:263520
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Cardiom... OMIM:255120
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic acidu... OMIM:251000
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Gait imbalance, Elevated circulating creatine kinase concentration, Hyper... OMIM:618120
Kid Syndrome
Trichilemmoma, Neoplasm of the skin, Neoplasm of the tongue, Lip fissure, Sparse eyelashes, Failu... ORPHA:477
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Elevated circulating creati... OMIM:201475
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Hypertrichosis, Sparse body hair, Nail dystrophy, Palmoplantar keratoderma,... ORPHA:678
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Chromomycosis
Multiple cutaneous malignancies, Abnormal oral cavity morphology, Lymphedema, Hyperkeratotic papu... ORPHA:182
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dystonia, Impaired proprioception, Skeletal muscle atrophy, Ga... ORPHA:98755
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Vasculitis, Pulmonary edema, Hypotension ORPHA:70578
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Nail dystrophy, Palmoplantar keratoderma, Tachycardia, Gingival ... OMIM:615821
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Hirsutism, Splenomegaly, Hepatosplenomegaly... ORPHA:354
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Basilar artery calcification, Fatigue, Vasculitis, Transient ischemic a... ORPHA:365
Rheumatic Fever
Myocarditis, Gait disturbance, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis... ORPHA:3099
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Myoglobinuria, Small for gestational age, Failure to thrive, El... OMIM:609015
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:227510
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Congenital Panfollicular Nevus
Hamartoma, Hyperkeratosis ORPHA:139414
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cerebral palsy, Abnormal heart morphology, Arthrogryposis multiplex co... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Wild Type Abeta2M Amyloidosis
Abnormal intestine morphology, Dysphagia, Intestinal pseudo-obstruction, Macroglossia, Gastrointe... ORPHA:85446
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Pericardial effusion, Nephrocalcinosis, Abnormal ren... ORPHA:73224
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hepatomegaly, Ragged-red muscle fibers, Failure to thrive, Bradykinesia, Spastic tetrap... OMIM:614924
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Skeletal muscle atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdia... OMIM:615157
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Halitosis, Recurrent lower respiratory tract infections, Myocardial inf... ORPHA:60033
Fabry Disease
Hypertension, Paresthesia, Ventricular septal hypertrophy, Fasciculations, Left ventricular hyper... OMIM:301500
Cyclic Vomiting Syndrome
Gastrointestinal dysmotility, Cardiomyopathy, Ataxia, Attention deficit hyperactivity disorder, L... OMIM:500007
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Congestive heart failure OMIM:300886
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Renal tubular acidosis, Coma,... ORPHA:156
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Hyponatremia, Pericarditis, Myositis, Pleuritis, Malabsorpti... ORPHA:3452
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:98933
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of the... ORPHA:83469
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Decreased circulating ferritin concentration, Babinski sign, Rigidity, Choreoathetosis,... OMIM:606159
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatomegaly, Hypertension, Dystonia, Pericarditis, Pericardial effusion, As... OMIM:619487
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral valve calcification, Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary ... ORPHA:363618
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Fatigue, Abnormal heart valve morphology ORPHA:577
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic... OMIM:619355
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Naxos Disease
Dilated cardiomyopathy, Syncope, Acantholysis, Ventricular arrhythmia, Palmoplantar keratoderma, ... OMIM:601214
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Scorpion Envenomation
Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, Pulmonary e... ORPHA:466677
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Moynahan Syndrome
Cachexia, Alopecia, Hypogonadism, Hyperkeratosis, Sparse hair ORPHA:2574
Bloom Syndrome
Hypertrichosis, Small for gestational age, Azoospermia, Leukemia, Facial telangiectasia in butter... OMIM:210900
Desminopathy
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, L... ORPHA:98909
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Gait imbalance, Coarctation of aorta, Atrial septal defect, Tetralogy ... OMIM:617159
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Ataxia, Lethargy OMIM:614299
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Intention tremor, Myalgia, Impaired tandem gait, Urinar... OMIM:300623
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Carious teeth, Decreased plasma total carnitine, Anal fissure, Chronic ki... ORPHA:79408
Phosphoribosylpyrophosphate Synthetase Superactivity