Gene Summary

Name:
GATA binding protein 5
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Gata5tm1b(KOMP)Wtsi HOM   Early adult 6.29×10-05
abnormal kidney morphology Gata5tm1b(KOMP)Wtsi HOM Early adult 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
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  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)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  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)
Adrenal gland N/A heterozygote 0.0% (0 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
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
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)
Harderian gland 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
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)
Mesenteric lymph node 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 Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid 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)
Quadriceps 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
Skin N/A heterozygote 0.0% (0 of 2)
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
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

54 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Gata5 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 Gata5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gata5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5... OMIM:137950
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephrit... OMIM:161900
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Prim... OMIM:612964
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Focal Segmental Glomerulosclerosis 1
Hypertension, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria OMIM:189800
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... OMIM:612965
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Ethanolaminosis
Cardiomegaly OMIM:227150
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic... ORPHA:54370
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Synovitis, Hypertension, Abnormal glomerular mesangium morphology... ORPHA:567544
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hirsutism, Sparse axillary hair, Hypospadias... OMIM:613762
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy, Esophageal obstruction OMIM:150700
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Vulvovaginitis, Allergic Seminal
Vaginitis OMIM:193450
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Aica-Ribosiduria
Fused labia minora, Clitoral hypertrophy ORPHA:250977
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Anal atresia, Rectal atresia, Perineal fistula ORPHA:3016
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Glomerular sclerosis, Renal salt wast... OMIM:174000
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Female external genitalia in i... ORPHA:251510
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Trimethylaminuria
Recurrent pneumonia, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Renal, Genital, And Middle Ear Anomalies
Renal hypoplasia/aplasia, Vaginal atresia OMIM:267400
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c... OMIM:203780
Interstitial Cystitis
Abnormality of the menstrual cycle, Pollakisuria, Abnormal vagina morphology, Nocturia, Urinary b... ORPHA:37202
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Frasier Syndrome
Focal segmental glomerulosclerosis, Hypertension, Glomerulopathy, Nephroblastoma, Nephrotic syndr... ORPHA:347
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypertension OMIM:618681
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertensio... ORPHA:275555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Aica-Ribosuria Due To Atic Deficiency
Fused labia minora, Clitoral hypertrophy OMIM:608688
Stiff Skin Syndrome
Camptodactyly, Elbow flexion contracture, Knee flexion contracture, Bicuspid aortic valve OMIM:184900
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Glomerulopathy, Congestive heart failure, Renal insufficiency, Hypertro... ORPHA:225
C3 Glomerulopathy
Hematuria, Acute kidney injury, Hypertension, Membranoproliferative glomerulonephritis, Chronic k... ORPHA:329918
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis, Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Renal amyloidosis, Abnormal cardiac ventricular function, Atrial ... ORPHA:439232
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Renal Hypodysplasia/Aplasia 1
Primary amenorrhea, Renal dysplasia, Vaginal atresia, Bicornuate uterus, Renal agenesis, Proteinuria OMIM:191830
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Hirsutism, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplas... OMIM:158330
Liddle Syndrome
Arrhythmia, Hypertension, Nephropathy, Cerebral ischemia, Renal insufficiency ORPHA:526
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Seckel Syndrome 5
High palate, Cryptorchidism, Clitoral hypertrophy OMIM:613823
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Ambiguous genitalia, female, Primary amenorrhea ORPHA:2975
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, High palate, Hypertrichosis, Clitoral hypertrophy, Precocious puberty OMIM:262190
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Nephrocalcinosis, Congestive heart failure, Hypertension OMIM:614473
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Hirsutism, Polycystic ovaries, Uri... ORPHA:2795
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Clitoral hypertrophy, Congenital adrenal hyperplasia, Cleft palate, Eczema, Spo... ORPHA:96181
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Mitral regurgitatio... OMIM:617168
Congenital Generalized Lipodystrophy
Low anterior hairline, Macroglossia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Precocious p... ORPHA:528
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Acne, Long penis, Premature pubarche, Irregular menstruation, Ambiguous geni... ORPHA:90795
Cirrhosis, Familial
Pulmonary arterial hypertension, Jaundice, Increased level of L-fucose in urine, Hypertension OMIM:215600
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Hypertension, Nephropathy, Proteinuria OMIM:166300
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Hypertension, Glomerulonephritis, Glomerular basement membrane la... OMIM:104200
Coproporphyria, Hereditary
Hypertension, Jaundice, Tachycardia, Increased urinary porphobilinogen, Elevated urinary delta-am... OMIM:121300
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal i... OMIM:618061
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Ovotestis, Decreased testicular size, External genital hypoplasia, Hypospadi... OMIM:610644
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Lower limb muscle weakness, Reduced systolic... ORPHA:171881
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease ORPHA:3156
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Decreased testicular size, Hirsutism, Dec... ORPHA:90791
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve OMIM:618955
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphr... ORPHA:752
Bent Bone Dysplasia Syndrome
Clitoral hypertrophy, Hirsutism OMIM:614592
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Adamantinoma
Hypercalcemia ORPHA:55881
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Anal stenosis, Bicornuate uterus, Rectovaginal fistula, Vesicoureteral reflux, Pelvic kidney, Cli... OMIM:300707
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Aminoaciduria, Hypertension, Recurrent pneumonia OMIM:268500
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Microgastria-Limb Reduction Defect Syndrome
Esophagitis, Hiatus hernia, Crossed fused renal ectopia, Renal agenesis, Horseshoe kidney, Perine... ORPHA:2538
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lcat Deficiency
Renal insufficiency, Hematuria, Hypertension, Proteinuria ORPHA:650
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Congenit... OMIM:202010
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Carotid artery stenosis, Bicuspid aortic val... OMIM:602531
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:276621
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Hypertension, Chronic kidney disease, Proteinuria OMIM:123550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated gamma-glutamyl... ORPHA:247691
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,... OMIM:617006
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Vascular dilatation, Heart murmur, Congestive heart fail... ORPHA:615
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Scleritis, Nephrot... ORPHA:93126
Leukocyte Adhesion Deficiency
Peritonitis, Severe periodontitis, Osteomyelitis, Bronchiectasis, Chronic oral candidiasis, Recur... ORPHA:2968
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Hypertension, Nephroblastoma, Stage 5 chronic ki... OMIM:194080
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... OMIM:609008
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Nephropathy, Myocardial infarcti... ORPHA:182050
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Hypertension OMIM:600666
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Hypertension, Glycosuria, Stage 5 chronic kidney dise... OMIM:618913
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Primary amenorrhea, Distal renal tubular acidosis, Septate vagi... OMIM:146255
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Arrhythmia, Hypertension ORPHA:3222
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Vaginal atresia, Bifid uvula, Renal agenesis OMIM:616258
Donohue Syndrome
Ovarian cyst, Long penis, Hypertrichosis, Clitoral hypertrophy, Precocious puberty OMIM:246200
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Acute kidney injury, Myocardial infarction, Renal insufficiency, Abnormal ... ORPHA:54057
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Hepatic failure, Nephrotic syndrome, Recurrent myoglobinuria, Hypertrophic ... OMIM:607426
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Hypertension, Microscopic hematuria, Glomerular basement ... OMIM:301050
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Gout, Hypertension OMIM:610947
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves... ORPHA:2704
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hypertension,... OMIM:232200
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Pulmonary insufficiency, Hypertension, Absence of renal cortic... OMIM:602088
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Meier-Gorlin Syndrome 7
Cryptorchidism, Anal stenosis, High palate, Thin eyebrow, Duodenal stenosis, Cleft palate, Vesico... OMIM:617063
Xfe Progeroid Syndrome
Renal insufficiency, Elevated hepatic transaminase, Hypertension, Proteinuria OMIM:610965
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Camptobrachydactyly
Septate vagina ORPHA:1319
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Coronary artery atherosclerosis, Hypertension, Cerebral artery ... ORPHA:1192
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Hypertension, Atrioventric... ORPHA:371428
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
High, narrow palate, Distal urethral duplication OMIM:277465
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydroureter, Aganglionic megacolon, Rectovaginal fistu... OMIM:236700
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Hypertension, Renal tubular acidosis, Pulmonic stenosis, Renal cyst,... OMIM:610205
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypertension, Renal salt wasting OMIM:201910
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hypertension, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia, Hypertension OMIM:173900
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hypertension,... OMIM:232220
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Camptodactyly, Aortic root aneurysm, Mitral regu... OMIM:301039
Seckel Syndrome 9
Ambiguous genitalia, Recurrent urinary tract infections, Hypertrichosis, Clitoral hypertrophy, Ag... OMIM:616777
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hypertens... OMIM:232240
Paragangliomas 6
Hypertension OMIM:618464
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Hypertension, Uni... ORPHA:93110
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Glycosuria, Tubulointerstitial nephri... OMIM:614817
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Zellweger Syndrome
Cryptorchidism, High palate, Pyloric stenosis, Multicystic kidney dysplasia, Hydronephrosis, Hypo... ORPHA:912
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy ORPHA:820
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Increased circulating lactate dehydrogena... OMIM:300555
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Meier-Gorlin Syndrome 2
Hypoplastic labia majora, Clitoral hypertrophy, Labial hypoplasia, Breast hypoplasia OMIM:613800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Hypertension, Polycystic kidney dysplasia, Stage 5 chronic ki... OMIM:613095
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Positive regitine blocking test, Episodic hypertension, Cerebral... OMIM:171420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal atresia, Vesicoureteral reflu... ORPHA:2237
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic dissection, Bicuspid aortic valve, Torticollis, Ao... OMIM:614816
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:29072
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertrop... ORPHA:1345
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Hype... ORPHA:730
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Bicuspid aortic valve OMIM:618529
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:243310
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Gout, Renal cyst, Chronic kidney disease OMIM:617056
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Nephropathy, Chronic kidney... ORPHA:85445
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Arthritis, Renal insufficiency, Vasculitis, Proteinuria ORPHA:375
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Aortic atherosclero... ORPHA:363618
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Anal atresia, Hypospadias, An... OMIM:309801
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Periodontitis, Duodenal ulcer, Abnormal fallopian tube morp... ORPHA:722
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Bronc... OMIM:193670
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Cleft palat... OMIM:214110
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Orofaciodigital Syndrome Type 4
Renal agenesis, Absent testis, Perineal fistula, Decreased testicular size, Rectovaginal fistula,... ORPHA:2753
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Hirsutism ORPHA:313855
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Meier-Gorlin Syndrome 3
Cryptorchidism, Recurrent pneumonia, Breast hypoplasia, Scrotal hypoplasia, Sparse axillary hair,... OMIM:613803
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hirsutism, Decreased testicular size, Clitoral hypertrophy, Spontaneous abortion, Testicular adre... ORPHA:90794
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Hypertension, Cerebral ischemia, Nephrotic syndrome, Renal in... OMIM:242900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Renal cyst, Cleft palate, Clitoral hypertrophy, Renal cortical microcysts OMIM:614866
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Seckel Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Cleft palate, High palate OMIM:210600
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial ... OMIM:615244
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Genitopatellar Syndrome
Cryptorchidism, Scrotal hypoplasia, Multicystic kidney dysplasia, Sparse scalp hair, Hydronephros... ORPHA:85201
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Pulmonary e... ORPHA:567546
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Sparse axillary hair, Primary ameno... OMIM:300068
Oculocerebrofacial Syndrome, Kaufman Type
Clitoral hypertrophy, High, narrow palate, Thin eyebrow, Absent eyebrow ORPHA:2707
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Nephropathy, Myocardial infarct... ORPHA:330001
Potocki-Shaffer Syndrome
Nephroblastoma, Micropenis, Hypertension ORPHA:52022
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Hypertension OMIM:616733
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Abnormal hair morphology, Perineal hypo... OMIM:264600
Cednik Syndrome
Congestive heart failure, Proteinuria, Nephrotic syndrome ORPHA:66631
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced urethral meatus, Epispadias, Bi... ORPHA:93928
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Baller-Gerold Syndrome
Perineal fistula, Rectovaginal fistula, Anal atresia, Cleft palate, Bifid uvula, High palate, Ant... OMIM:218600
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Clitoral hypertrophy, Bicornuate uterus, Vesicoureteral reflux,... ORPHA:140952
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension OMIM:231690
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Squalene Synthase Deficiency
Elbow flexion contracture, Knee flexion contracture, Bicuspid aortic valve OMIM:618156
Transaldolase Deficiency
Clitoral hypertrophy, Synophrys OMIM:606003
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Pulmonary insufficiency, Abnormal hea... ORPHA:230851
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Abnormal internal genitalia, Multi... ORPHA:2973
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Pyelonephritis, Chordee, Bifid scrotum, Ureteropelvic junction obstr... OMIM:140000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Crossed fused renal ectopia, Horseshoe kidney, Abnormal vagi... ORPHA:3097
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
X Small Rings
Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Intestinal malrotation, Cholangitis, Vaginal atr... OMIM:612726
Nephroblastoma
Nephroblastoma, Hematuria, Hypertension ORPHA:654
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Hypertension, Recurrent pneumonia OMIM:616069
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Bardet-Biedl Syndrome 1
Abnormality of the ovary, High palate, High, narrow palate, Aganglionic megacolon, Hirsutism, Vag... OMIM:209900
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm ORPHA:145
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, High palate, Aganglionic megacol... ORPHA:2473
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Hy... ORPHA:1830
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Hematuria ORPHA:284400
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Hypertension, Renal tubular atrophy, Renal corticomedulla... OMIM:613159
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
C Syndrome
High palate, Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts OMIM:211750
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Breast aplasia, Clitoral hypoplasia, Hypoplastic labia major... ORPHA:2554
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Sparse eyebrow, Hypoplastic labia majora, Hypoplastic labia minora, Cleft ... OMIM:619124
Rabson-Mendenhall Syndrome
Low anterior hairline, Macroglossia, Long penis, Premature graying of hair, Thick hair, Enlarged ... ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Ileal atresia, Chordee, Streak ovary, Jejunal atresia, ... OMIM:618820
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617729
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Albuminuria, High palate, Aminoaciduria, Protruding tongue, Hydrone... OMIM:214100
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Prima... OMIM:273250
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Elevated hepatic transaminase, Gastrointestinal hem... ORPHA:340
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Rhabdoid Tumor
Renal neoplasm, Hypertension, Hematuria, Internal hemorrhage ORPHA:69077
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:617575
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hypertension, Absence of renal corticomedullary dif... OMIM:263200
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Clitoral hypertrophy, Ambiguous genitalia ORPHA:543470
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality... ORPHA:2842
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140