Gene: Lama5 MGI:105382

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Gene Summary

Name:
laminin, alpha 5
Synonyms:
N/A

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
preweaning lethality, complete penetrance Lama5tm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged heart Lama5tm1b(KOMP)Wtsi HET Early adult 0.00

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Striatum 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)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 100% (3 of 3)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 33.33% (1 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 33.33% (1 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 66.67% (2 of 3)
N/A homozygote 100% (2 of 2)
N/A heterozygote Not available
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 33.33% (1 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 3)
N/A homozygote 50% (1 of 2)
N/A heterozygote 66.67% (2 of 3)
N/A homozygote 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)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
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)
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)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Lama5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lama5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Azotemia, Familial
Azotemia OMIM:109160
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Ethanolaminosis
Cardiomegaly OMIM:227150
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
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
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Short nose, Abn... ORPHA:401935
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Hypoplasia of the ulna, Mesomeli... OMIM:228940
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Nephrotic syndro... ORPHA:84090
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesi... ORPHA:1166
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Coarctation of aorta, Patent ductus arteriosus, Bi... OMIM:612474
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Upper limb phocomelia, A... ORPHA:294975
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Pelvic kidney,... OMIM:601186
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Low-set, posteriorly rotated ears, Abnormal aortic mor... ORPHA:1926
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Urethral st... ORPHA:1727
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal i... OMIM:615382
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Renal agenesis, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... ORPHA:2516
Taurodontism
Taurodontia OMIM:272700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Amyloidosis, Familial Visceral
Hematuria, Proteinuria, Nephropathy, Nephrotic syndrome OMIM:105200
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:608709
Thymic Aplasia With Fetal Death
Truncus arteriosus, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis, Abnormality of the e... OMIM:274210
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Maternal diabetes, Patent ductus arteriosus, Abnormal tricuspid valve m... ORPHA:1208
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Delayed puberty, Microphthal... OMIM:233270
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, V... OMIM:603387
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Cryptorchidism, Atrial septal defect, Cutaneous syndactyly, Patent foramen o... OMIM:618316
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Decreased testicular size, Bi... ORPHA:2326
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular sep... ORPHA:2876
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Abnormality of the p... OMIM:616920
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
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
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Hearing impairment,... OMIM:617577
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Pulmonic ste... OMIM:615415
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Feingold Syndrome Type 1
Patent ductus arteriosus, Vesicoureteral reflux, Sensorineural hearing impairment, Short thumb, M... ORPHA:391641
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... OMIM:612946
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infections, Pulmonary ar... OMIM:616777
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of ... ORPHA:290
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Broad thumb, Bulbous nose, Interrupted aortic arch, Hand polydactyly, Toe syndact... ORPHA:250989
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal testis morphology, Abnormal aortic morphology, Pul... ORPHA:991
Craniofacioskeletal Syndrome
Cryptorchidism, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Barrel-... OMIM:300712
Acrocardiofacial Syndrome
Camptodactyly of finger, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Toe syndactyly... ORPHA:2008
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... OMIM:618845
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Mosaic Trisomy 1
Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, Micropenis, Depressed... ORPHA:1692
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
C3 Glomerulopathy
Hematuria, Acute kidney injury, Membranoproliferative glomerulonephritis, Chronic kidney disease,... ORPHA:329918
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Abnormality of the pinna, Umbilical hernia, ... OMIM:618164
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Camptodactyly, Pectus excavatum,... OMIM:179613
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephrolithiasis, Nephroblastoma, Polycystic kidney dysplasia, Hyp... OMIM:145001
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Microphthalmia, Syndromic 12
Cryptorchidism, Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal b... OMIM:615524
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Trisomy 13
Cryptorchidism, Abnormality of the antihelix, Atrial septal defect, Multiple renal cysts, Postaxi... ORPHA:3378
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Choanal atresia, Patent ductus arteriosus, Long toe, T... ORPHA:163979
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria ORPHA:284400
Nephronophthisis
Renal insufficiency ORPHA:655
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Dextrocardia, Double outlet right ... OMIM:605376
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Decreased response to growth... OMIM:220210
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:147770
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Syndactyly, B... OMIM:616589
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Dextrocardia, Microphthalmia, Anophthalmia, Prominent nose OMIM:221950
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria ORPHA:510
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Holoprosencephaly, Low-set,... ORPHA:1908
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy ORPHA:79087
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis ORPHA:214
Indomethacin Embryofetopathy
Renal insufficiency, Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Pineal cyst, Ventricular septal defect, 2-3 toe syndactyly, P... OMIM:617516
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proteinuria OMIM:245900
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Broa... OMIM:601927
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Underdeveloped nasal... OMIM:192430
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... ORPHA:228190
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... OMIM:612933
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cryptorchidism, Atrial septal defect, Macrotia, 2-3 toe syndactyly, Patent d... ORPHA:3304
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Floating-Harbor Syndrome
Cryptorchidism, Atrial septal defect, Cone-shaped epiphyses of the phalanges of the hand, Conduct... OMIM:136140
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Abnormality of the metacarpal bones,... ORPHA:2538
Lcat Deficiency
Renal insufficiency, Hematuria, Proteinuria ORPHA:650
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Secundum atri... OMIM:156810
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular... OMIM:609029
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Dextrocardia
Abnormal renal morphology, Situs inversus totalis, Congenital hip dislocation, Congenital malform... ORPHA:1666
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Floating-Harbor Syndrome
Cryptorchidism, Short thumb, Short clavicles, Broad fingertip, Precocious puberty, Hip dysplasia,... ORPHA:2044
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia OMIM:173900
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Pelvic kidney, Preaxial hand polydactyly, Truncus arteriosus, Pectus excavatum, Bicu... ORPHA:508498
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Crossed Polysyndactyly
Postaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pen... ORPHA:2935
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the optic nerve, Abn... ORPHA:40366
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Keutel Syndrome
Short hallux, Recurrent bronchitis, Epiphyseal stippling, Premature fusion of phalangeal epiphyse... OMIM:245150
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome OMIM:256150
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... OMIM:604381
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Glomerulopathy, Hypercalcemia, Proteinuria ORPHA:2668
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Preaxial hand polydactyly, Toe syndactyly, Ventricular s... ORPHA:261344
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Ulnar deviation o... OMIM:616145
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency, Hearing impa... ORPHA:251076
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Hematuria, Acute kidney injury, Proteinuria ORPHA:54057
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Atresia of the external auditory canal, Choana... OMIM:146510
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Bilateral single... ORPHA:3033
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle, Chronic s... ORPHA:244
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, Hydrocephalus, Ectrodactyly, 2-3 finge... ORPHA:2437
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae OMIM:611867
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Duplicated collecting system, Double outlet right ventricle, Vesicoureteral reflu... OMIM:301056
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal renal morphology, Abnormal heart morphology, Ven... ORPHA:477817
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Hypoplastic helices, Ventricular septal defect, Absent pulmonary artery, Split ha... OMIM:600460
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Pseudotrisomy 13 Syndrome
Cryptorchidism, Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly, Adrenal hypo... OMIM:264480
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... ORPHA:2364
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... ORPHA:93323
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteri... ORPHA:77298
Charge Syndrome
Cryptorchidism, Abnormality of tibia morphology, Overfolded helix, Choanal atresia, Patent ductus... ORPHA:138
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Broad thumb, Patent ductus arteriosus, Neutropenia, Cor triatriatum, Leukopenia, ... OMIM:612541
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Vent... OMIM:617992
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:971
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Short nose, Fused fourth and fifth metacarpals, Foot ... OMIM:206920
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Hemifacial Microsomia
Anotia, Branchial anomaly, Ventricular septal defect, Conductive hearing impairment, Coarctation ... OMIM:164210
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Hyperechogenic kidneys, Polydactyly, Microphthalmia, Anop... OMIM:613885
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Pectus excavatum, Coarctation ... ORPHA:261243
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Adams-Oliver Syndrome
Absent hand, Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Abnormal pulmona... ORPHA:974
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Maternal Phenylketonuria
Abnormal renal morphology, Hypoplastic helices, Abnormal heart morphology, Ventricular septal def... ORPHA:2209
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Hydrocephal... ORPHA:96170
22Q11.2 Deletion Syndrome
Cryptorchidism, Small earlobe, Bulbous nose, Overfolded helix, Choanal atresia, Patent ductus art... ORPHA:567
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, C... OMIM:617022
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Choanal atresia, Recurrent urinary tract infections, Sandal gap, Short... ORPHA:261330
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Hepatomegaly, Nephrocalcinosis, Prote... OMIM:616026
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Hyperca... ORPHA:251004
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Microphallus, Perineal hypospadias, Testicular dysgenesis, Tetralogy of Fallot, M... OMIM:615542
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polydactyly, Syndactyly, Nephroblastoma, Microphthalmia, Leukemia, Hyd... OMIM:602501
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Midshaft hypospadias, Patent ductus arteriosus, Wide nas... ORPHA:2863
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Abnormal tricuspid valve morphology, Microcytic anemia, Upper li... ORPHA:90308
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Short phalanx of finger, Bulbous nose, Ventricular septal defec... OMIM:613458
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Split foot, Microphthalmia, Triphalangeal thumb ORPHA:3434
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Congenital hypothyroidism, Pancreatic hypoplasia, Neonatal insulin-depe... ORPHA:2255
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Enlarged kidney, Dec... OMIM:608836
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Renal hypoplasia, Ab... ORPHA:75389
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Renal hypoplasia, 2-3 toe syndactyly, Single transverse palmar crease, ... OMIM:236500
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Hydroureter, Patent ductus arteriosus, Symphalangism affecti... ORPHA:2547
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Renal insufficiency, Hematuria, Nephropathy, Glomerular basement membr... OMIM:308940
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, R... OMIM:248250
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... ORPHA:1330
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Multicentric Carpotarsal Osteolysis Syndrome
Renal ins