Gene Summary

Name:
family with sequence similarity 161, member A
Synonyms:
4930430E16Rik

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 heart rate Fam161atm1b(KOMP)Wtsi HOM   Early adult 3.86×10-06
shortened RR interval Fam161atm1b(KOMP)Wtsi HOM   Early adult 6.57×10-05
increased heart weight Fam161atm1b(KOMP)Wtsi HOM Early adult 9.07×10-06
decreased coping response Fam161atm1b(KOMP)Wtsi HOM Early adult 1.83×10-05
increased startle reflex Fam161atm1b(KOMP)Wtsi HOM Early adult 3.87×10-07
increased grip strength Fam161atm1b(KOMP)Wtsi HOM Early adult 8.76×10-06
increased lean body mass Fam161atm1b(KOMP)Wtsi HOM Early adult 8.88×10-05
decreased exploration in new environment Fam161atm1b(KOMP)Wtsi HOM Early adult 6.44×10-05

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 50% (1 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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 Dorso Ventral

11 Images

Adult LacZ

LacZ Images Section

9 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Fam161a 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 Fam161a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fam161a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... OMIM:608051
Macular Degeneration, Age-Related, 13
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar OMIM:615439
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Retinitis Pigmentosa 48
Visual impairment, Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... ORPHA:85128
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Retinal Cone Dystrophy 1
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... OMIM:180020
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels OMIM:618513
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss, Mizuo phenomenon, ... OMIM:312700
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Peripheral Cone Dystrophy
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... OMIM:609021
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Retinal degeneration OMIM:617879
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... OMIM:609923
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Wagner Vitreoretinopathy
Optic atrophy, Myopia, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, ... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... OMIM:610381
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Stargardt Disease
Aplasia/Hypoplasia of the macula, Central scotoma, Retinal pigment epithelial mottling, Reduced v... ORPHA:827
Retinitis Pigmentosa 80
Progressive visual loss, Macular atrophy, Blindness OMIM:617781
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Microphthalmia, Isolated 5
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... OMIM:611040
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Morm Syndrome
Retinal dystrophy, Progressive night blindness, Visual impairment, Retinal atrophy ORPHA:75858
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Patent ductus arteriosus, A... OMIM:615147
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar atrophy, Retinal degeneration OMIM:614322
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive ... OMIM:256730
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... OMIM:613750
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... OMIM:210370
Leber Congenital Amaurosis 15
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... OMIM:613843
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Macular Degeneration, Age-Related, 1
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... OMIM:603075
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... OMIM:204200
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... OMIM:618826
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Trimethylaminuria
Hypertension, Tachycardia, Splenomegaly OMIM:602079
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Anxiety OMIM:121300
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... ORPHA:411527
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Progressive Bifocal Chorioretinal Atrophy
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... ORPHA:179
Oguchi Disease
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... ORPHA:75382
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... ORPHA:45452
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluores... OMIM:256731
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... OMIM:264420
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Bardet-Biedl Syndrome 21
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... OMIM:617406
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... ORPHA:284454
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... OMIM:180104
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... OMIM:604393
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 51
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... OMIM:613464
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Bardet-Biedl Syndrome 4
Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615982
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly OMIM:602271
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Reduced visual acuity, Peripapillary atrophy, Macular degeneration OMIM:618195
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Systolic he... ORPHA:2041
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... ORPHA:52427
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 77
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy OMIM:617304
Variegate Porphyria
Tachycardia OMIM:176200
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Progressive neurologic deterioration, Tachycardia, Increased body weight ORPHA:276608
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Retinal Cone Dystrophy 3B
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:610356
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Photophobia, Visual impairment OMIM:252650
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atro... OMIM:616171
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... ORPHA:860
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... OMIM:605750
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen OMIM:608895
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Retinitis Pigmentosa 86
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... OMIM:618613
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... OMIM:300476
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Visual loss, Abnormal mitochondrial morphology, Cerebral cor... OMIM:300438
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... ORPHA:209943
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyopathy, Ventricular septa... ORPHA:263297
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Photophobia, Retinal thinning, Macular degeneration OMIM:270200
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:180105
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Retinal thinning OMIM:615960
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... OMIM:610127
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... OMIM:605549
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy OMIM:617236
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Cognitive impairment, Ventricular septal hypertrophy, Tremor, Obesity,... OMIM:614947
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macu... OMIM:145350
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Spinocerebellar Ataxia 7
Progressive visual loss, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... OMIM:613767
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Motor deterioration, Abnormal heart morphology, Cognitive impairment, Tachycardia, Emot... ORPHA:79264
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epith... OMIM:616959
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... OMIM:613581
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Vis... OMIM:604360
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Reduced visual acuity OMIM:602499
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... OMIM:616201
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Thiamine-responsive megaloblastic anemia, Sideroblastic anem... OMIM:249270
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Nephronophthisis 14
Retinal degeneration OMIM:614844
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276556
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Leber Hereditary Optic Neuropathy
Postural tremor, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Stiff-Person Syndrome
Hypertension, Opisthotonus, Agoraphobia, Exaggerated startle response, Tachycardia, Anxiety OMIM:184850
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... OMIM:610283
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Anxiety, Arrhythmia ORPHA:464453
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276575
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
High hypermetropia, Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Reti... OMIM:619260
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Large for gestatio... ORPHA:276580
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Photophobia ORPHA:816
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Hypermetropia, Retinal dystrophy, Amblyopia, Retinal atrophy ORPHA:370022
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Paragangliomas 3
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:605373
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Hepatomegaly, Small for gestational age, Palpitations, Tachycardia, Large for gestationa... ORPHA:324575
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Abetalipoproteinemia
Acanthocytosis, Retinal degeneration, Retinopathy OMIM:200100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Weight loss, Tachycardia OMIM:613239
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Retinal degeneration, Visual impairment, Macular degeneration OMIM:270700
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Perimembranous ventricular septal defect, Bradycardia, ... OMIM:618782
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Weight loss, Tachycardia OMIM:188580
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Paragangliomas 1
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:168000
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Blindness, Macular degeneration ORPHA:1573
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone dystrophy, Visual loss, Blindnes... ORPHA:391428
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
16P12.1P12.3 Triplication Syndrome
Skin-picking, Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morphology, ... ORPHA:485405
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular tachycardia, Failure to thrive, Cardiac arrest, Ventricular f... OMIM:300952
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Irritability, Tachycardia OMIM:229700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Pericardial effusion, Atrioventricular block,... OMIM:115197
Scheie Syndrome
Retinal degeneration OMIM:607016
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Atrial septal defect, Tachycardia OMIM:613870
Refsum Disease, Classic
Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:266500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy OMIM:615434
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Reduced visual acuity, Retinal atrophy OMIM:616722
Serotonin Syndrome
Hypertension, Tachycardia, Tremor, Irritability, Mental deterioration, Anxiety, Hypotension ORPHA:43116
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Progressive neurologic deterioration, Tachycardia, Large for gestational age, Tremo... ORPHA:263455
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis OMIM:605808
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... ORPHA:137675
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Congenital Fibrinogen Deficiency
Opisthotonus, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal ... ORPHA:335
Cone-Rod Dystrophy 6
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... OMIM:601777
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... ORPHA:436245
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... OMIM:606068
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Tetanus
Hypertension, Opisthotonus, Tachycardia, Bradycardia, Tremor ORPHA:3299
Aceruloplasminemia
Anemia, Retinal degeneration OMIM:604290
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... OMIM:224700
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Cerebellar atrophy, Retinal degeneration, Reduced visual acuity, Visual loss, Corpus call... ORPHA:168491
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration, Abnormality of vision, Brain atrophy, Cerebral atrophy ORPHA:442835
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairment, C... OMIM:300257
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Dyschromatopsia, Diffuse... ORPHA:71505
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration, Nyctalopia, Splenomegaly OMIM:615630
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Dementia, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-W... OMIM:540000
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Reduced visual acuity, Retinal degeneration, Visual impairment OMIM:615249
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Double outlet right ventricle, ... ORPHA:3426
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomegaly, Cardiomyopathy, Arrhythmia ORPHA:85447
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration ORPHA:404451
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Reduced visual acui... ORPHA:168549
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Acanthocytosis, Bull's eye maculopathy, Visual field defect,... ORPHA:157850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Diplopia, Cerebellar atrophy, Macular degeneration ORPHA:284289
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Mitral regurgi... ORPHA:3092
Senior-Loken Syndrome 9
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:616629
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus OMIM:239000
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia ORPHA:264675
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90033
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... OMIM:619048
Werner Syndrome
Retinal degeneration OMIM:277700
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Irritability, Arrhythmia, Hypotension ORPHA:159
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Visual field defect, Rod-cone dystrophy, Nyctalopia, Cerebral cortical atrophy ORPHA:166035
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration, Peripheral visual field loss ORPHA:79244
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Gliosis, Optic disc coloboma,... OMIM:120330
Porphyria, Acute Intermittent
Anxiety, Hypertension, Tachycardia OMIM:176000
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Failure to thrive, Tachycardia, Bradyca... OMIM:613327
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age OMIM:609152
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Mercury Poisoning
Tremor, Hypertension, Tachycardia, Hypotension ORPHA:330021
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Cerebellar atrophy, Hemeralopia, Reduced visual acuity, Macular degen... ORPHA:94147
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Failure to thrive OMIM:618378
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Pseudoxanthoma Elasticum
Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Reduced visual acuity, Macul... OMIM:264800
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension,... OMIM:614921
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Peripheral visual f... OMIM:250410
Paragangliomas 4
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... OMIM:115310
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Irritability, Tachycardia ORPHA:348
Senior-Loken Syndrome 8
Macular atrophy, Reduced visual acuity, Visual impairment OMIM:616307
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Angioid streaks of the fundus, Reduced visual acuity, Macular degeneration, Visual impair... OMIM:177850
Acute Intermittent Porphyria
Hypertension, Tachycardia, Tremor, Mental deterioration, Anxiety, Memory impairment ORPHA:79276
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Tularemia
Tachycardia ORPHA:3392
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Failure to thrive, Cognitive impairme... ORPHA:444013
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Retinal degeneration, Vacuolated lymphocytes, Gliosis, Splenomegaly, Corpus c... OMIM:248500
Scorpion Envenomation
Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Bardet-Biedl Syndrome 1
Myopia, Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Reduced visual acuity, Hy... OMIM:209900
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Euphoria, Congestiv... ORPHA:31826
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, Tr... ORPHA:90068
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Hypochromic microcytic anemia, Refract... ORPHA:48818
Multiple Sulfatase Deficiency
Splenomegaly, Cerebellar atrophy, Retinal degeneration, Cerebral atrophy OMIM:272200
Nephronophthisis 11
Anemia, Retinal degeneration OMIM:613550
Timothy Syndrome