Gene Summary

Name:
MAS1 oncogene
Synonyms:
MasR,  Mas receptor,  Mas-1

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
short tibia Mas1tm1.1(KOMP)Vlcg HOM Early adult 5.04×10-05
abnormal bone structure Mas1tm1.1(KOMP)Vlcg HOM Early adult 7.36×10-08
increased bone mineral content Mas1tm1.1(KOMP)Vlcg HOM Early adult 1.56×10-07

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
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 33.33% (1 of 3)
Jejunum N/A heterozygote 33.33% (1 of 3)
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
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 3)
Prostate gland N/A heterozygote 33.33% (1 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Adult LacZ

LacZ Images Section

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Mas1 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 Mas1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... OMIM:618913
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... ORPHA:567544
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... OMIM:608709
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... ORPHA:839
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... OMIM:230400
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephro... ORPHA:730
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... OMIM:618061
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Amyloidosis, Familial Visceral
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria OMIM:105200
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... OMIM:612933
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia OMIM:245900
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... ORPHA:2260
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... ORPHA:99885
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... ORPHA:329918
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... ORPHA:1802
Eiken Syndrome
Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Metaphyseal irregularity, E... ORPHA:79106
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... ORPHA:93598
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Congestive h... ORPHA:225
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... ORPHA:2364
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... OMIM:123550
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E... ORPHA:275555
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Geniospasm 1
Anxiety OMIM:190100
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Myocardial infarction, Acute kidney injury, Proteinuria, R... ORPHA:54057
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Glycogen Storage Disease Iv
Portal hypertension, Tubulointerstitial fibrosis, Cardiomyopathy OMIM:232500
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing, Increased bone mineral... OMIM:166740
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... OMIM:104200
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomer... ORPHA:347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612926
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndrome, Renal interstitial amyloid depo... ORPHA:85443
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Anti-Glomerular Basement Membrane Disease
Hematuria, Vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome OMIM:249660
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... OMIM:232200
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hyperlipidemia, Hematuria, D... OMIM:232240
Cednik Syndrome
Proteinuria, Congestive heart failure, Nephrotic syndrome ORPHA:66631
Aa Amyloidosis
Nephrotic syndrome, Hypotension, Acute kidney injury, Nephropathy, Chronic kidney disease, Protei... ORPHA:85445
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... OMIM:232220
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:618348
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... ORPHA:18
Myh9-Related Disease
Nephritis, Spontaneous, recurrent epistaxis, Myocardial infarction, Nephropathy, Proteinuria, Ren... ORPHA:182050
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:618347
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Elevated circulati... ORPHA:90291
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Pulmonary arterial hypertension, Hyperuricemia, Hypomagnese... OMIM:613845
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:261222
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy ORPHA:69076
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:243910
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis OMIM:619525
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Nephropathy ORPHA:100024
Xfe Progeroid Syndrome
Hypertension, Proteinuria, Renal insufficiency OMIM:610965
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Tibial Hemimelia
Absent tibia OMIM:275220
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... OMIM:171420
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Elevated circulating creatine kinas... ORPHA:368
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... ORPHA:330001
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephritis, Stage 5 ch... OMIM:301050
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Arrhyt... ORPHA:57
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Hyp... OMIM:145600
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Absent radius, Olig... OMIM:251230
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminuri... OMIM:214100
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color ORPHA:98895
Heme Oxygenase 1 Deficiency
Hypertension, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin concentration, Prot... OMIM:614034
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... ORPHA:95455
Alkaptonuria
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis OMIM:203500
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosis, Epistaxis, Stage 5 c... ORPHA:79259
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney, Hyperlipidemia ORPHA:369
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... OMIM:609049
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Hematuria, Glomer... ORPHA:276621
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration, Acute kidney inj... OMIM:618886
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Renal Agenesis
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... ORPHA:411709
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Nephrotic syndrome, Elevated circulating creatine kinase concentrati... OMIM:607426
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Cystinosis
Portal hypertension, Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Amino... ORPHA:213
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Ohdo Syndrome
Proteinuria OMIM:249620
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:91138
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Myoglobinuria, Cardiomyopathy ORPHA:119
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria, Hypertension OMIM:191830
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney disease OMIM:617056
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Fabry Disease
Hypertension, Lipiduria, Urinary mulberry cells, Myocardial infarction, Transient ischemic attack... OMIM:301500
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Pheochromocytoma
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... OMIM:171300
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Punctate vasculitis skin l... OMIM:192315
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Conjugated hyperbilirubinemia, ... OMIM:210550
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Wilson Disease
Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Aminoacid... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Membranoprolif... ORPHA:251004
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... OMIM:220110
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Transien... OMIM:242900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Free Sialic Acid Storage Disease
Proteinuria, Nephrotic syndrome ORPHA:834
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Renal cell carcin... ORPHA:29072
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... ORPHA:436271
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Raynaud phenomenon OMIM:607944
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Simple Cryoglobulinemia
Hypertension, Pericarditis, Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Raynaud ph... ORPHA:91139
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Decreased plasma free carnitine, Elevated circulating creatine kinase concentratio... ORPHA:228305
Neuraminidase Deficiency
Cardiomyopathy, Proteinuria, Urinary excretion of sialylated oligosaccharides, Increased urinary ... OMIM:256550
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency ORPHA:1307
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:86818
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... OMIM:137920
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... OMIM:277400
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hyperuricemia, Increased total bilirubin OMIM:232800
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Elevated circulating creatinine concentration, Glomerular sclerosis... ORPHA:247691
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... ORPHA:411629
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Myoglobinuria, Palpitations OMIM:255125
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria OMIM:300323
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... ORPHA:33001
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Pulmonary venous hypertension, Elevated circulating creatinine concentration ORPHA:90060
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... ORPHA:47159
Galloway-Mowat Syndrome
Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:2065
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Hematuria, Arrhythmia, Proteinuria, Renal insufficiency,... ORPHA:549
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... ORPHA:1830
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Galloway-Mowat Syndrome 3
Hypertension, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypoalbum... OMIM:617729
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Premature ventricular contraction, Myoglobinuria, Ventricular tachycardia, Supraven... ORPHA:423
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Abnormal circulating fatty-acid concentration, Tachycardia, Glycosuria, P... ORPHA:263455
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hematuria, Proteinuria, Ren... ORPHA:71273
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Hematuria, ... ORPHA:183
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hypertension, Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney dis... OMIM:619487
Hypocomplementemic Urticarial Vasculitis
Hematuria, Small vessel vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:36412
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hyperalaninemia, Increased serum pyruvate, Mild proteinuria, Renal insufficiency OMIM:619147
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Heart murmur ORPHA:2728
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, Nephrotic... OMIM:617303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Abnormality of the urinary system, Hematuria, Nephritis, Raynaud phenomenon, ... ORPHA:93552
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced ejection fraction, Elevated circulating creatine kinase conc... OMIM:201475
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea... ORPHA:94093
Majeed Syndrome
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:77297
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria ORPHA:556
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Tubulointerstitial nephritis, Prolonged QT interval, Ventricul... ORPHA:90068
Denys-Drash Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:194080
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration, Elevat... OMIM:609015
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ... OMIM:617925
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Martin-Probst Syndrome
Telangiectasia, Chordee, Micropenis, Proteinuria, Renal insufficiency OMIM:300519
Hellp Syndrome
Cerebral hemorrhage, Hemoglobinuria, Acute kidney injury, Proteinuria, Hypotension, Internal hemo... ORPHA:244242
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Abnormal left ventric... OMIM:607155
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Renal cyst, Cardiomyopathy, Hypoal... OMIM:212065
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:241530
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve... OMIM:300908
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Prolonged QT interval, Abnorm... ORPHA:71212
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria, Hypokalemia OMIM:619377
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Fabry Disease