Gene Summary

Name:
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Synonyms:
CD143

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 Acetm1.1(KOMP)Vlcg HET E9.5 0.00
hyperactivity Acetm1.1(KOMP)Vlcg HET Early adult 4.47×10-05
embryonic growth retardation Acetm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Acetm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal embryo size Acetm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic growth retardation Acetm1.1(KOMP)Vlcg HET E9.5 0.00

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  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 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)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

77 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Tubular Dysgenesis
Anuria, Hypotension, Abnormality of the urinary system, Renotubular dysgenesis OMIM:267430

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Gout, Renal corticomedullar... OMIM:603860
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Immunodeficiency 8
Hyperactivity OMIM:615401
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Uveitis, Reversible renal failure, Glo... OMIM:607665
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... OMIM:137950
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Hyperte... ORPHA:567544
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Trimethylaminuria
Recurrent pneumonia, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
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
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Variegate Porphyria
Tachycardia, Porphyrinuria OMIM:176200
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... OMIM:224700
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricular function, Elevate... ORPHA:439232
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Organic aciduria, Supraventricular tachycardi... OMIM:255100
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Infantile hypercalcemia, Neph... OMIM:143880
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic... ORPHA:54370
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Premature... ORPHA:3156
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Elevated circulating creatinine concentrat... ORPHA:275555
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Central diabetes insipidus, Hydronephrosis OMIM:304900
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertension, Type II diabetes mellitus, Increased adipose tissue, ... ORPHA:71529
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypote... ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Palpitations, Hy... ORPHA:276575
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Coproporphyria, Hereditary
Tachycardia, Increased urinary porphobilinogen, Hypertension, Elevated urinary delta-aminolevulin... OMIM:121300
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Palpitations, Abnormal circul... ORPHA:1501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypertension, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Polydipsia OMIM:613677
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Nephronophthisis 15
Nephronophthisis OMIM:614845
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Pulmonary arterial hypertension, Chron... OMIM:613845
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Methylmalonic acidemia, Pa... OMIM:251000
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Decr... OMIM:610600
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreati... ORPHA:276556
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbuminemia, Nephrotic synd... ORPHA:255249
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Decreased serum creatinine, Re... ORPHA:54057
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Orthostatic hypotension, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Image Syndrome
Hypospadias, Hypogonadism, Hydronephrosis, Adrenal hypoplasia ORPHA:85173
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... ORPHA:93126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension OMIM:618681
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Hypertension, Glomerulonephritis, Glo... OMIM:104200
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Irregular me... ORPHA:90795
Bardet-Biedl Syndrome 16
Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma... OMIM:615993
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Hereditary Coproporphyria
Porphyrinuria, Dark urine, Hyponatremia, Nephropathy, Tachycardia, Abnormal circulating porphyrin... ORPHA:79273
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension... OMIM:123550
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Hypertension, ... OMIM:613095
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Congestive heart failure,... OMIM:619048
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... OMIM:177735
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Elevated circulating creatine kinase concentration, Highly eleva... ORPHA:368
Focal Segmental Glomerulosclerosis 1
Hypertension, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... OMIM:145600
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarction, Menorrhagia, Renal insuffic... ORPHA:182050
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype... OMIM:171420
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556037
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Fechtner syndrome
Hematuria, Menorrhagia, Stage 5 chronic kidney disease, Nephritis, Proteinuria OMIM:153640
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... OMIM:203780
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Renal Nutcracker Syndrome
Infertility, Hematuria, Orthostatic hypotension, Syncope, Dyspareunia, Microscopic hematuria, Tac... ORPHA:71273
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Budd-Chiari syndro... ORPHA:49041
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Apparent Mineralocorticoid Excess
Renal insufficiency, Polydipsia, Hypertension, Decreased circulating renin level, Hypokalemia, Ab... ORPHA:320
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin level, Re... OMIM:612780
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Pheochromocytoma
Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype... OMIM:171300
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Acute kidney injury, Increased inflammatory res... ORPHA:542323
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Obesity OMIM:614962
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency, Hypotension OMIM:156310
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556030
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Hydronephrosis ORPHA:251076
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Generalized Glucocorticoid Resistance Syndrome
Infertility, Increased urinary cortisol level, Increased circulating cortisol level, Oligomenorrh... ORPHA:786
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Abnormal urinary color, Tachycardia ORPHA:90037
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Decreased response to growth hormone stimu... OMIM:609734
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Renal tubular atrophy, Renal corticomedullary cysts, Tubu... OMIM:613159
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyposthenuria, Renal potassium wasting, Low-to-normal blood pressure, Polyur... OMIM:601678
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Hypotension, Elevated circulating crea... ORPHA:91547
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Atrial fibrillation OMIM:616166
Sotos Syndrome 3
Hyperactivity OMIM:617169
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Glomerulopathy, Conjunctivitis, Tubulointerstitial nephritis,... ORPHA:33001
Snakebite Envenomation
Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, Hypotension, Hyponatremia, Epist... ORPHA:449285
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Renal cyst, Chronic kidney ... OMIM:617056
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Polydipsia, Megacystis, Polyuria OMIM:125800
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Polydipsia, Megacystis, Polyuria OMIM:304800
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Alport Syndrome
Hematuria, IgA deposition in the glomerulus