Gene Summary

Name:
ATP-binding cassette, sub-family A member 1
Synonyms:
ABC1

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
abnormal embryo size Abca1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Abca1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
unresponsive to tactile stimuli Abca1tm1b(EUCOMM)Hmgu HET E18.5 0.00
abnormal retina morphology Abca1tm1b(EUCOMM)Hmgu HET Early adult 1.14×10-05
unresponsive to tactile stimuli Abca1tm1b(EUCOMM)Hmgu HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 66.67% (2 of 3)
Aorta  Wholemount images heterozygote 100% (3 of 3)
Bone  Wholemount images heterozygote 100% (3 of 3)
Brain  Wholemount images heterozygote 100% (3 of 3)
Brainstem  Wholemount images heterozygote 100% (3 of 3)
Brown adipose tissue  Wholemount images heterozygote 100% (3 of 3)
Cartilage tissue  Wholemount images heterozygote 100% (3 of 3)
Cerebellum  Wholemount images heterozygote 100% (3 of 3)
Cerebral cortex  Wholemount images heterozygote 100% (3 of 3)
Gall bladder  Wholemount images heterozygote 100% (3 of 3)
Heart  Wholemount images heterozygote 100% (3 of 3)
Hippocampus  Wholemount images heterozygote 100% (3 of 3)
Hypothalamus  Wholemount images heterozygote 100% (3 of 3)
Kidney  Wholemount images heterozygote 100% (3 of 3)
Liver  Wholemount images heterozygote 100% (3 of 3)
Lower urinary tract  Wholemount images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images heterozygote 100% (3 of 3)
Oral epithelium  Wholemount images heterozygote 100% (3 of 3)
Ovary  Wholemount images heterozygote 33.33% (1 of 3)
Oviduct  Wholemount images heterozygote 33.33% (1 of 3)
Pancreas  Wholemount images heterozygote 100% (3 of 3)
Peripheral nervous system  Wholemount images heterozygote 100% (3 of 3)
Pituitary gland  Wholemount images heterozygote 100% (3 of 3)
Prostate gland  Wholemount images heterozygote 66.67% (2 of 3)
Skeletal muscle  Wholemount images heterozygote 100% (3 of 3)
Skin  Wholemount images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images heterozygote 100% (3 of 3)
Stomach  Wholemount images heterozygote 100% (3 of 3)
Striatum  Wholemount images heterozygote 100% (3 of 3)
Testis  Wholemount images heterozygote 66.67% (2 of 3)
Thyroid gland  Wholemount images heterozygote 100% (3 of 3)
Trachea  Wholemount images heterozygote 100% (3 of 3)
Trigeminal V nerve  Wholemount images heterozygote 100% (3 of 3)
Uterus  Wholemount images heterozygote 33.33% (1 of 3)
Vas deferens  Wholemount images heterozygote 33.33% (1 of 3)
White adipose tissue  Wholemount images heterozygote 100% (3 of 3)
Cecum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote Not available
Large intestine N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 100% (3 of 3)
Lymph node N/A heterozygote 100% (3 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote 0.0% (0 of 3)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 50% (1 of 2)
Cranium N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Not available
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote Ambiguous
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Not available
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote Not available
Umbilical vein embryonic part N/A heterozygote Not available
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

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 Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

MicroCT E18.5

Embryo reconstruction

5 Images

Adult LacZ

LacZ Images Wholemount

35 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Abca1 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 predicted to be associated to Abca1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g... OMIM:619267
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Exertional dyspnea, Redu... OMIM:608751
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef... OMIM:613876
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Pulmonary Hypertension, Primary, 5
Exertional dyspnea, Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, ... OMIM:265400
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Increased HDL cholesterol concentration, Hypotriglycerid... OMIM:614028
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Elevated left ventricular en... OMIM:612201
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Elevated circulatin... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Dyspnea, Hypertrophic cardiomyopathy, Myocard... OMIM:613873
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Glanzmann Thrombasthenia 1
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... OMIM:273800
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakne... ORPHA:86812
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:615888
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, El... OMIM:619048
Fixed Subaortic Stenosis
Exertional dyspnea, Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiom... ORPHA:3092
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Increased circulating brain natriuretic peptide ... OMIM:601494
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Sudden ... OMIM:610476
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Dyspnea, Pulmonary arterial hyperte... ORPHA:275766
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,... OMIM:614201
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymph... OMIM:613101
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Right ventricular failure, Right ventricular hypertrophy, Central ... ORPHA:70589
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... ORPHA:85451
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Peripartum Cardiomyopathy
Left atrial enlargement, Exertional dyspnea, Hypertension, Sinus tachycardia, Heart murmur, Left ... ORPHA:563
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul... ORPHA:403
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Renal insufficiency, Arthritis, Skin rash, Hyperte... ORPHA:567544
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:604765
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Familial Hyperaldosteronism Type Ii
Hypokalemia, Hypertension, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperal... ORPHA:404
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Hypertrophic cardiomyopa... OMIM:615418
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr... ORPHA:63273
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Dyspnea, Pulmonary arterial hypertension, Right ven... OMIM:178600
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Hemorrhagic ovarian cyst, Gingival bleeding, Inter... ORPHA:335
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Mi... OMIM:614065
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia,... OMIM:607616
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr... OMIM:187800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:606685
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Renal insufficiency, Gonadoblastoma, Hypertension, Foc... ORPHA:347
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Hyperalaninemia, Left ventricular hypertrophy OMIM:616974
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Respiratory distress, Hypertension, Abnormal renal corticomedullary... OMIM:616733
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypertension, Abnormal circulating renin, Glucocortocoid-inse... ORPHA:251274
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Myofibrillar Myopathy 10
Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno... OMIM:619040
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Hyponatrem... OMIM:300200
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi... ORPHA:602
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle h... ORPHA:280356
Classic Multiminicore Myopathy
Muscular dystrophy, Congestive heart failure, Nocturnal hypoventilation, Weakness of facial muscu... ORPHA:324604
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy, Hypertrophic c... OMIM:609500
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ... OMIM:208085
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Arthritis, Dyspnea, Crescentic glomerulone... OMIM:616414
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Reni Syndrome
Hypertriglyceridemia, Lymphopenia, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:617575
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph... OMIM:616730
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Exertional dyspnea, Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dy... OMIM:181350
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Chilblains, Pericarditis, ... OMIM:619487
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Arrhythmia, Left ventricular h... ORPHA:57777
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Coloboma Of Macula
Macular coloboma OMIM:120300
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Exertional dyspnea, Reduced left ventricular... ORPHA:3093
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Bardet-Biedl Syndrome 16
Recurrent otitis media, External genital hypoplasia, Respiratory distress, Renal cyst, Renal agen... OMIM:615993
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Dyspnea, Severely reduced left ventricular ej... OMIM:612877
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortiso... OMIM:615830
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr... OMIM:619858
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesan... OMIM:613496
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Distal Nebulin Myopathy
Ankle flexion contracture, Exertional dyspnea, Cardiomyopathy, EMG: myopathic abnormalities, Nema... ORPHA:399103
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Ecze... OMIM:618348
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Abnormal circulating renin, Pulmonary arterial hypertension, Adrenal h... ORPHA:369929
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... OMIM:608099
Hemochromatosis, Type 2A
Congestive heart failure, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Increased circu... OMIM:602390
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys,... OMIM:603278
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy OMIM:600790
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller t... OMIM:300580
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Elevated circulating creatine ... OMIM:300376
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hepatomegaly, Hemolytic-uremic syndrome, Elevated circulating hepatic tran... OMIM:619644
Cardiomyopathy, Familial Hypertrophic, 28
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... OMIM:619402
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic ac... ORPHA:26792
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa... OMIM:613156
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Irregular menstruation, Left ventricular hypertrophy OMIM:102200
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea... OMIM:620282
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, O... ORPHA:786
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Exertional dyspnea, Third heart sound, Left ventricular hypertrophy, Rig... ORPHA:99106
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, El... OMIM:300280
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Focal segmental glomerulosclerosis, Hypoth... OMIM:618347
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po... OMIM:617006
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231580
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I... ORPHA:36234
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Vomiting, Hyponatremia, Adrenal hyp... ORPHA:90790
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Claw hand deformity, Distal upper limb amyotrophy, Elevated circulating creatine kinase concentra... OMIM:614455
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Primary g... ORPHA:261534
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:2137
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:91130
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Glomerular sclerosis, Weakness of facial musculat... ORPHA:247691
Developmental And Epileptic Encephalopathy 109
Dyspnea, Left ventricular hypertrophy OMIM:620145
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Exertional dyspnea, Concentric hypertrophic cardiomyopathy, Reduc... OMIM:613243
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Schimke Immuno-Osseous Dysplasia
Hypertension, Hyperlipidemia, Cerebral ischemia, Bone marrow hypocellularity, Lymphopenia, Intrau... ORPHA:1830
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Elevated circulating creatin... OMIM:611615
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Episodic vomiting, Pancytopenia, Elevated c... OMIM:616050
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Death in infancy, Leu... OMIM:278000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased circulating carnitine concentration OMIM:611283
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine co... OMIM:212140
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, D... OMIM:607765
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re... OMIM:618176
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hypertension, Neph... ORPHA:329918
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Lymphopenia, Intrauterine growth retardation, Stage 5 chronic ki... OMIM:242900
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Congenital nephro... OMIM:256300
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Spermatogenic Failure 29