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
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 embryo size Abca1tm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal retina morphology Abca1tm1b(EUCOMM)Hmgu HET   Early adult 2.57×10-06
unresponsive to tactile stimuli Abca1tm1b(EUCOMM)Hmgu HET E18.5 0.00
abnormal locomotor behavior Abca1tm1b(EUCOMM)Hmgu HET Early adult 5.44×10-05

Download data as:  TSV  XLS

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

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 Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

VIP of left fundus

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

35 Images

Eye Morphology

VIP of right fundus

10 Images

Eye Morphology

VIP of left eye

10 Images

Eye Morphology

VIP of right eye

10 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

5 Images

Histopathology

Images

1 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
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testicular Torsion
Torsion of appendix of testis, Testicular torsion 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
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... OMIM:187950
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy... OMIM:613873
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Respiratory distress, Abnormal respiratory system physiology... ORPHA:70589
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pul... OMIM:268500
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Exertional dyspnea, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac de... OMIM:608751
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Palpitations, Ventricular arrhythmia, Reduced... ORPHA:217607
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... OMIM:614028
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Dyspnea, Hypertrophic cardiomyopathy OMIM:614582
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu... OMIM:265400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Cardiomyopathy OMIM:613752
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... OMIM:609200
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase ... OMIM:619048
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Polycystic ovaries, Membranoproliferative gl... OMIM:608709
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Arrhythmia, Flexion contracture, Respiratory insufficiency, Rimmed vacuoles, El... OMIM:300696
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency, Elevated circulat... OMIM:612999
Myopathy, Distal, 4
Mildly elevated creatine kinase, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy,... OMIM:614065
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hypertension, Abnor... ORPHA:403
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hypertension, Gluco... ORPHA:404
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Hyperte... ORPHA:567544
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Dyspnea, Increased pulmonary vascular resistance, Hypertension, Right ... OMIM:178600
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Elevated ci... OMIM:616414
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Supraventricular tachycardia, Elevated circulating creatine kinase con... OMIM:255100
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... ORPHA:324604
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... ORPHA:347
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Flexion contracture, Postnat... OMIM:616733
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy, Respiratory insufficiency OMIM:614654
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles, Hypertrophic c... OMIM:609500
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hype... ORPHA:251274
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Splenic rupture, Internal hemorrhage, Hemorrhagic ... ORPHA:335
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... OMIM:187800
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Neonatal respiratory distress, Chronic lung disease, Right ventricular ... ORPHA:217563
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Recurrent otitis media, External genital hypoplasia, Renal ... OMIM:615993
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hypertension, Polycystic ovarie... ORPHA:280356
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Dyspnea, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase co... OMIM:617713
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growt... ORPHA:567548
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... ORPHA:602
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Increased QRS voltage, Left ventricu... OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystroph... OMIM:613156
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... OMIM:616730
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Cardiorespiratory arrest, Hypertrophic cardiomyopathy ORPHA:34587
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Cardiomyopathy, Weakness of the intrinsic hand ... ORPHA:399103
Combined Oxidative Phosphorylation Deficiency 30
Hyperalaninemia, Left ventricular hypertrophy OMIM:616974
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Atrial septal defect, Arthrogryposis multiplex congenita, Elevated hepatic tra... OMIM:208085
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Reduced vital capacity, Cardiomyopathy OMIM:617336
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Atrial flutter, Glomerular sclerosis, Elevat... ORPHA:439232
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:613404
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Death in infancy, Diarrhea, Leukopenia, Anemia, Hyp... OMIM:278000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating... OMIM:300376
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona... ORPHA:3093
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypertriglycerid... OMIM:617575
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618222
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Growth delay, Glomerular sclerosis, Gastroesophageal reflux, Ren... OMIM:256300
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Arrhythmia, Azoospermia, Dilated cardi... OMIM:602390
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Glomerular sclerosis, Elevated circulating creatine kinase concen... OMIM:607426
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Respiratory distress, Hepatic steatosis, Elevate... ORPHA:26792
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Imm... OMIM:613496
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Increased body weig... OMIM:615830
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Nausea, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circulatin... ORPHA:369929
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Ventricular septal hypertrophy, Skeletal muscle ... ORPHA:370
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Ambiguous genitalia, f... ORPHA:90791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Dilated cardiomyopathy, Proximal amyotrophy, Mu... OMIM:604286
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Hypertrophic cardiomyopathy OMIM:618235
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Cushing Disease
Infertility, Hypertension, Telangiectasia of the skin, Truncal obesity, Hypokalemia, Metrorrhagia... ORPHA:96253
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Perching Syndrome
Camptodactyly, Flexion contracture, Respiratory distress OMIM:617055
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Dyspnea, Respiratory insufficiency, Nemaline bodies, Limb muscle wea... OMIM:606842
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Respiratory distress... ORPHA:254864
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Dilated ... OMIM:181350
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced ejection fraction, Pulmonary arterial hypertension OMIM:618189
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Immunodeficiency 48
Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Failure to thrive, Splenomegaly OMIM:269840
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... OMIM:618999
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... OMIM:617006
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... ORPHA:400
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency, Skeletal muscle atroph... ORPHA:238329
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Skin rash, Abnormality of the hepatic vasculature, Punctate vasculiti... ORPHA:247691
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... ORPHA:399058
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough, Hepatomegaly, ... ORPHA:77260
Alport Syndrome
Hematuria, Cough, IgA deposition in the glomerulus, Vomiting, Clitoral hypertrophy, Renal insuffi... ORPHA:63
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Heparin-Induced Thrombocytopenia
Autoimmune thrombocytopenia, Increased inflammatory response, Increased serum serotonin, Myocardi... ORPHA:3325
Primary Unilateral Adrenal Hyperplasia
Palpitations, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Secretory diarrhea, Pancytopenia, Thrombocytopenia,... OMIM:616050
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyponatremia, Pneumonia, Hyperactive renin-angiotensin syst... ORPHA:90790
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Prolonged prothrombin time, Hypergonadotropic hypo... OMIM:212065
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Spider hemangioma, Inflammation of the lar... ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Menometrorrhagia, Macronodular adrenal hyperplasia, Hypertension, Truncal obesity, Failure to thr... ORPHA:189427
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... ORPHA:98911
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Diarrhea, Failur... OMIM:618495
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Right ventricular hypertrophy, Hypertension OMIM:613623
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619386
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Dilated cardiomyopathy, Centrally nucleated skeletal muscle fibers,... OMIM:255160
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Cong... OMIM:613313
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertro... OMIM:613153
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Rhizomelia, Camptodactyly, Postnatal growth retardation, Thrombocytopenia, Hydron... OMIM:611209
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Sleep apnea, Respiratory distress, Exertional dyspnea, Hy... ORPHA:98915
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micr... ORPHA:189439
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Intrauterine growth ret... OMIM:301006
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cough, Respiratory failure, Tachypnea OMIM:263000
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy OMIM:611283
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepa... ORPHA:528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Anemia, Skeletal muscle atrophy, Increased sarco... ORPHA:264580
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Macroglossia,... OMIM:617303
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Thrombocytopenia, Nep... OMIM:254900
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction... ORPHA:90065
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hypoc... OMIM:607765
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Hyperuricemia, Secondary amenorrhea, Cirrhosis, Maternal diabetes, P... ORPHA:79083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, Elevated ... OMIM:615352
Alstrom Syndrome
Hyperuricemia, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubulointerstit... OMIM:203800
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Noonan Syndrome 8
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic steno... OMIM:615355
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... ORPHA:470
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, R... OMIM:616028
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, A... ORPHA:50251
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Hypokalemia, Decrea... ORPHA:320
Tangier Disease
Facial diplegia, Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertr... OMIM:205400
Fabry Disease
Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Abnormal circulating lip... ORPHA:324
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Frasier Syndrome
Focal segmental glomerulosclerosis, Primary amenorrhea, Gonadal dysgenesis, Stage 5 chronic kidne... OMIM:136680
Fabry Disease
Arrhythmia, Proteinuria, Angina pectoris, Urinary mulberry cells, Nausea, Hypertension, Myocardia... OMIM:301500
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Chronic hepatic failure, Lower limb muscle weakness, Tricuspid regurgit... ORPHA:746
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Cardiomyopathy, Familial Hypertrophic, 13
Dyspnea, Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hyp... OMIM:613243
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Hepatic steatosis, Skeletal muscle hypertrophy, Polycystic ovaries, Hepatomegaly, H... ORPHA:2348
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Purpura OMIM:614380
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Constipation, Bilateral cryptorchidism, H... OMIM:618156
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Distal lower limb amyotrophy, Stag... OMIM:614455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Hyperuricemia, Gout, Renal cyst, Ch... OMIM:617056
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Biliary tract abnormality, Hypertension... OMIM:209900
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Hypertension a... ORPHA:276621
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Hypertension, Polycystic ovaries, Hepatomegaly, Pancreatitis... ORPHA:79084
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperpl... OMIM:613677
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress OMIM:619099
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Melas
Cardiac conduction abnormality, Abnormal mitochondria in muscle tissue, Diarrhea, Anemia, Type II... ORPHA:550
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Tyrosinemia, Type I
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Enlarged kidney, Hypertyro... OMIM:276700
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, ... ORPHA:49041
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Proportionate short stature, Abnormal left ventricular function, Lo... ORPHA:3208
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... ORPHA:45452
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Abnormal heart morphology, Mildly elevated creatine kinase, Flexion contrac... ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Glycogen Storage Disease Ia
Abnormal bleeding, Xanthelasma, Decreased muscle mass, Elevated hepatic transaminase, Focal segme... OMIM:232200
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Multicystic ki... OMIM:267010
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Re... ORPHA:169186
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia OMIM:615947
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Congenital Laryngeal Web
Abnormal cardiac septum morphology, Stridor, Respiratory distress ORPHA:2374
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Glutaric aciduria... OMIM:610198
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hypocholesterolemia, Hepatomegaly, Neonatal death, Micropenis, Hypertrophic car... OMIM:618810
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Acu... OMIM:607665
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Immunodeficiency 27A