Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), 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
unresponsive to tactile stimuli Abca1tm1b(EUCOMM)Hmgu HET E18.5 0.00
unresponsive to tactile stimuli Abca1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Abca1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal locomotor behavior Abca1tm1b(EUCOMM)Hmgu HET Early adult 4.60×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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
Heart atrium N/A homozygote 0.0% (0 of 1)
Axial skeleton N/A heterozygote Ambiguous
Axial skeleton N/A homozygote 0.0% (0 of 1)
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Central nervous system ganglion N/A heterozygote 50% (1 of 2)
Central nervous system ganglion N/A homozygote 0.0% (0 of 1)
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Ambiguous
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Outer ear N/A heterozygote Ambiguous
Outer ear N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote 0.0% (0 of 1)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forearm N/A heterozygote Ambiguous
Forearm N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Gut N/A heterozygote Ambiguous
Gut N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart ventricle N/A heterozygote Ambiguous
Heart ventricle N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A homozygote 0.0% (0 of 1)
Inner ear N/A heterozygote Not available
Inner ear N/A homozygote 0.0% (0 of 1)
Intestine N/A heterozygote Ambiguous
Intestine N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lower leg N/A heterozygote Ambiguous
Lower leg N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote 0.0% (0 of 1)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A homozygote 0.0% (0 of 1)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A homozygote 0.0% (0 of 1)
Metanephros N/A heterozygote Ambiguous
Metanephros N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nasal septum N/A heterozygote Ambiguous
Nasal septum N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote Ambiguous
Nose N/A homozygote 0.0% (0 of 1)
Notochord N/A heterozygote Ambiguous
Notochord N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 100% (2 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Outflow tract N/A heterozygote Ambiguous
Outflow tract N/A homozygote 0.0% (0 of 1)
Pancreas N/A heterozygote Not available
Pancreas N/A homozygote 0.0% (0 of 1)
N/A heterozygote 100% (2 of 2)
N/A homozygote 0.0% (0 of 1)
Pharynx N/A heterozygote Ambiguous
Pharynx N/A homozygote 0.0% (0 of 1)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A homozygote 0.0% (0 of 1)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A homozygote 0.0% (0 of 1)
Skeleton N/A heterozygote Ambiguous
Skeleton N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote Ambiguous
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Stomach N/A heterozygote 100% (2 of 2)
Stomach N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 0.0% (0 of 1)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A homozygote 0.0% (0 of 1)
Tongue N/A heterozygote 100% (2 of 2)
Tongue N/A homozygote 0.0% (0 of 1)
Trachea N/A heterozygote Ambiguous
Trachea N/A homozygote 0.0% (0 of 1)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A homozygote 0.0% (0 of 1)
Umbilical artery embryonic part N/A heterozygote Not available
Umbilical artery embryonic part N/A homozygote 0.0% (0 of 1)
Umbilical vein embryonic part N/A heterozygote Not available
Umbilical vein embryonic part N/A homozygote 0.0% (0 of 1)
Upper arm N/A heterozygote Ambiguous
Upper arm N/A homozygote 0.0% (0 of 1)
Upper leg N/A heterozygote Ambiguous
Upper leg N/A homozygote 0.0% (0 of 1)
Urinary system N/A heterozygote Ambiguous
Urinary system N/A homozygote 0.0% (0 of 1)
Vibrissa N/A heterozygote Ambiguous
Vibrissa 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left eye

16 Images

Embryo LacZ

LacZ images wholemount

5 Images

Adult LacZ

LacZ Images Wholemount

35 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

MicroCT E18.5

Embryo reconstruction

5 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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 associated to Abca1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abca1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... OMIM:608751
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Decreased circulating dihydrotestosterone co... OMIM:228300
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... OMIM:613642
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... ORPHA:217607
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... OMIM:265400
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Increased LDL cholesterol conc... OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... OMIM:612201
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... OMIM:608709
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... OMIM:610476
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... OMIM:609200
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... ORPHA:1329
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... ORPHA:563
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
46,Xy Sex Reversal 11
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... ORPHA:444013
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... OMIM:613101
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... OMIM:178600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Ele... OMIM:604765
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul... ORPHA:404
Myopathy, Distal, 4
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Mildly... OMIM:614065
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:403
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... ORPHA:63273
Classic Multiminicore Myopathy
Multiple joint contractures, Nocturnal hypoventilation, Muscle fiber atrophy, Generalized amyotro... ORPHA:324604
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal umbilical ... ORPHA:335
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: my... OMIM:615418
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Arthritis, Restrictive ventilatory defect, Crescentic glomerulonephritis, E... OMIM:616414
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... ORPHA:275766
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory... OMIM:607616
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:179494
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Combined Oxidative Phosphorylation Deficiency 30
Hyperalaninemia, Left ventricular hypertrophy, Respiratory distress OMIM:616974
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Hypertension, Serositis... ORPHA:567544
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, S... ORPHA:347
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... ORPHA:251274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Supraventricular tachycardia, Fatty replacement of skeletal muscle, El... OMIM:255100
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Interstitial pneumonitis, Spontaneous neonatal pneumothorax, Neo... ORPHA:217563
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... OMIM:187800
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Renal dysplasia, Left ventricular hypertrophy, Hypertension, Respiratory dis... OMIM:616733
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... ORPHA:163976
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Autoph... OMIM:609500
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Myopathy, Hepat... OMIM:617713
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... OMIM:300200
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... ORPHA:567548
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Elevated circulatin... OMIM:181350
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Respiratory distress... OMIM:300580
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Short stature, External genital hy... OMIM:615993
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Supravalvular aortic stenosis, Hypertrophic cardiomyo... ORPHA:439232
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... OMIM:103900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Patent foramen ovale, Intrahepatic biliary atresia, Renal t... OMIM:208085
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:617575
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:616730
Glycogen Storage Disease Due To Lamp-2 Deficiency
Cardiorespiratory arrest, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Hepatomegaly, Abnormal circulatin... ORPHA:57777
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:612877
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericard... OMIM:619487
Coenzyme Q10 Deficiency, Primary, 1
Hepatic failure, Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, ... OMIM:607426
Focal Segmental Glomerulosclerosis 1
Anemia, Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmenta... OMIM:603278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy... OMIM:613156
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Exertional dyspne... ORPHA:399103
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Pericardial e... ORPHA:555874
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... ORPHA:189439
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Ventricular septal defect, Glycosuria, Jaundice, Elevated ... OMIM:613404
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism... OMIM:615830
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... OMIM:610717
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Increased variability in muscle fiber diameter, Centrally nucleated sk... OMIM:612999
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chronic diarrhea, Chilblains, Type I diabetes mellitus, Membranoproliferative g... OMIM:619858
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Adrena... ORPHA:369929
Hemochromatosis, Type 2A
Increased serum iron, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure,... OMIM:602390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Hypertrophic cardiomyopathy OMIM:618235
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, L... OMIM:614654
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Intermittent diarrhea, Nephrotic syndrome, Neutr... OMIM:619644
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Short stature... OMIM:618348
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle... OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular outflow tract obstruction, Heart murmur, Left ventric... ORPHA:308552
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypothyroidism, Gastroesophageal reflux, Congenital nephrotic syndrome, Gl... OMIM:256300
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... ORPHA:189427
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... OMIM:613496
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... ORPHA:163971
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid regurgitation... ORPHA:99106
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, E... ORPHA:370
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... OMIM:300869
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Ventilator dependence with inability to wean, Respiratory distress, M... ORPHA:254864
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... OMIM:540000
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... OMIM:102200
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
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Respiratory distress, Hepatic steatosis, Increa... ORPHA:26792
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Global systolic dysfunction, Nemaline bodies, Dyspnea, Limb muscle wea... OMIM:606842
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Dyspnea OMIM:620145
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... ORPHA:238329
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Iron deficiency anemia, Glomerulon... ORPHA:99931
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... OMIM:603965
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress, Myopathy ORPHA:91130
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Peroneal muscle atrophy, Weakness of long finger ... ORPHA:609
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... OMIM:301075
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Nephrotic s... OMIM:618347
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... OMIM:255160
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Stage 5 chronic kidney disease, Elevated circulating creatine kinas... OMIM:614455
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentr... ORPHA:36234
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Exertional dyspnea, Reduced left ventricular ejection fraction, Concen... OMIM:613243
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Decreased HDL cholesterol c... OMIM:205400
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Vomiting, Increased circulating ACTH level, Decreased circulating cortisol level,... ORPHA:90790
Myopathy, X-Linked, With Postural Muscle Atrophy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Achilles tendon contra... OMIM:300696
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Ischemic stroke, Bone marrow hypocellularity, Hyperlipidemia, Thromb... ORPHA:1830
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, P... OMIM:616050
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia OMIM:254120
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... ORPHA:63
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Respiratory insufficiency, Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating ... OMIM:615352
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Increased serum serotonin, Abnormal onset of bleeding, Aut... ORPHA:3325
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Skin... ORPHA:247691
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... ORPHA:77260
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:399058
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia OMIM:247800
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, H... OMIM:278000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Paradoxical resp... OMIM:608810
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Asthma, Hyperbil... ORPHA:400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Fabry Disease