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Gene: Ampd2 MGI:88016

Gene Summary

Name:

adenosine monophosphate deaminase 2

Synonyms:

Ampd-2, 1200014F01Rik, m4521Dajl

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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, incomplete penetrance		Ampd2^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00
increased circulating potassium level		Ampd2^{tm1b(EUCOMM)Hmgu}	HET		Early adult	3.59×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 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	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	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)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	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)
Prostate 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)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	50% (1 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	50% (1 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
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Adult LacZ

LacZ Images Wholemount

9 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Human diseases caused by Ampd2 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.

Human diseases associated with Ampd2 (3 diseases)
Human diseases predicted to be associated with Ampd2 (640 diseases)

The table below shows human diseases associated to Ampd2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Recessive Spastic Paraplegia Type 63	Decreased body weight	ORPHA:401805
Spastic Paraplegia 63, Autosomal Recessive		OMIM:615686
Pontocerebellar Hypoplasia, Type 9		OMIM:615809

The table below shows human diseases predicted to be associated to Ampd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hypertriglyceridemia	OMIM:619175
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc...	OMIM:615703
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr...	OMIM:619868
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia	ORPHA:71529
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement	OMIM:617006
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Body Mass Index Quantitative Trait Locus 19	Obesity, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hypert...	OMIM:618620
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes...	OMIM:615812
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ...	ORPHA:567544
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:105200
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Temple Syndrome	Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Overweight, Small for gesta...	OMIM:616222
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina...	OMIM:616828
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Galactokinase Deficiency	Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas...	ORPHA:79237
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia	ORPHA:209902
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Morgagni-Stewart-Morel Syndrome	Obesity, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest...	ORPHA:412
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity	ORPHA:96184
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Cog4-Cdg	Failure to thrive in infancy, Hypercholesterolemia	ORPHA:263501
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Thrombotic Thrombocytopenic Purpura	Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency	ORPHA:54057
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Anti-Glomerular Basement Membrane Disease	Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency	ORPHA:375
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Smith-Magenis Syndrome	Increased body weight, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur...	OMIM:612925
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Tangier Disease	Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612924
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero...	OMIM:278000
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Failure to thrive, Hypertriglyceridemia	ORPHA:528
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod...	ORPHA:444490
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome	OMIM:612926
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria	OMIM:618347
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia, Failure to thrive	ORPHA:2089
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617575
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria	OMIM:616026
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Obesity Due To Congenital Leptin Deficiency	Obesity, Hypertriglyceridemia	ORPHA:66628
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Obesity Due To Leptin Receptor Gene Deficiency	Obesity, Hypertriglyceridemia	ORPHA:179494
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki...	ORPHA:261222
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Membranoproliferative glomerulonephritis	OMIM:619858
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria	OMIM:613404
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase concentrat...	ORPHA:98855
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia	ORPHA:69663
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Galactosemia I	Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine	OMIM:230400
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria	OMIM:301108
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase concentrat...	ORPHA:98863
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase concentrat...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase concentrat...	ORPHA:98853
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Failure to thrive	ORPHA:369
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con...	OMIM:603553
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Preeclampsia	Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Abnormality of the...	ORPHA:275555
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste...	OMIM:210250
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Elevated circulating creatine kinase concentration, Increased body weight, Hyp...	ORPHA:264580
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren...	ORPHA:368
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Liddle Syndrome	Hypokalemia	ORPHA:526
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom...	ORPHA:93126
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight, Elevated circulating creatine kinase concentration, Hypercholesterolemia, ...	ORPHA:79240
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Neuraminidase Deficiency	Proteinuria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosacch...	OMIM:256550
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Gaisböck Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,...	ORPHA:90041
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Fanconi-Bickel Syndrome	Hypophosphatemia, Failure to thrive, Hypertriglyceridemia	ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Free Sialic Acid Storage Disease	Proteinuria, Nephrotic syndrome	ORPHA:834
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N...	OMIM:607426
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria	ORPHA:213
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Hypertriglyceridemia	ORPHA:79083
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re...	OMIM:227810
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia	OMIM:617591
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting	OMIM:613845
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco...	ORPHA:436271
Lysosomal Acid Lipase Deficiency	Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert...	ORPHA:275761
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu...	ORPHA:439232
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Microtriplication 11Q24.1	Obesity, Hyperlipidemia	ORPHA:289522
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem...	ORPHA:90674
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re...	ORPHA:85450
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia	OMIM:620454
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Failure to thrive, Hypertriglyceridemia	OMIM:613327
Lysinuric Protein Intolerance	Failure to thrive, Increased circulating ferritin concentration, Decreased HDL cholesterol concen...	ORPHA:470
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,...	ORPHA:411634
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Papa Syndrome	Proteinuria	ORPHA:69126
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity...	OMIM:176270
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Cryoglobulinemic Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:91138
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco...	OMIM:220110
Bardet-Biedl Syndrome 20	Obesity, Hypercholesterolemia	OMIM:619471
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Werner Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Hyperkalemia	OMIM:617595
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Reduced circulating cortisol-binding globulin concentration	OMIM:611489
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein...	ORPHA:93552
Wild Type Attr Amyloidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria	ORPHA:330001
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron...	ORPHA:1830
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology	OMIM:274150
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Renal Fanconi syndrome, Glycosuria	ORPHA:263455
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98907
Hypocomplementemic Urticarial Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:36412
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Fabry Disease	Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency	OMIM:301500
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury	OMIM:618886
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c...	ORPHA:79102
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Autosomal Recessive Spastic Paraplegia Type 63	Decreased body weight	ORPHA:401805
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyc...	ORPHA:79259
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis...	ORPHA:157
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste...	ORPHA:186
Immunodeficiency 47	Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive	OMIM:300972
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:242900
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Tangier Disease	Hypocholesterolemia, Hypertriglyceridemia	ORPHA:31150
Seckel Syndrome 10	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:617253
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney...	OMIM:619487
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Proteinuria, Nephrotic syndrome, Renal tubular atr...	OMIM:617303
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Moderate proteinuria, Proteinuria, Hyperechogenic kidneys, Hemolytic-uremic syndrome	OMIM:301110
Ohdo Syndrome	Proteinuria	OMIM:249620
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Alstrom Syndrome	Obesity, Hypertriglyceridemia, Hyperuricemia, Truncal obesity, Decreased HDL cholesterol concentr...	OMIM:203800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency	ORPHA:556
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membranoproliferative gl...	ORPHA:91139
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel...	ORPHA:228308
Glycerol Kinase Deficiency	Hyperglycerolemia, Small for gestational age, Hypertriglyceridemia	OMIM:307030
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal...	OMIM:277400
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Majeed Syndrome	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:77297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Failure to thrive, Hypertriglyceridemia	OMIM:619418
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N...	OMIM:617729
Renal Nutcracker Syndrome	Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Legionnaires Disease	Hematuria, Proteinuria, Renal insufficiency	ORPHA:549
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:610717
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Al Amyloidosis	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,...	ORPHA:85443
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia	ORPHA:156
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary...	OMIM:219800
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria	OMIM:251900
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis	ORPHA:183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Proteinuria, Glomerular sclerosis	ORPHA:247691
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232220
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, He...	OMIM:232240
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Lymphatic Filariasis	Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph...	ORPHA:2035
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Martin-Probst Syndrome	Proteinuria, Chordee, Renal insufficiency, Micropenis	OMIM:300519
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heavy proteinuria, Prote...	ORPHA:505248
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Renal insufficiency, Proteinuria, Glomerulonephritis...	ORPHA:90291
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Small for gestational age, Failure to thrive, Hypertriglyceridemia	OMIM:606721
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Small for gestational age, Hy...	OMIM:619573
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis...	OMIM:251300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Nephrotic syndrome, Proximal tubulopathy, Renal cyst	OMIM:212065
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria	OMIM:201475
Wagro Syndrome	Proteinuria, Nephroblastoma	OMIM:612469
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:255120
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Increased body weight, ...	ORPHA:189427
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Hellp Syndrome	Hemoglobinuria, Proteinuria, Acute kidney injury	ORPHA:244242
19P13.12 Microdeletion Syndrome	Obesity, Hyperlipidemia	ORPHA:254346
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra...	ORPHA:340
Spondyloenchondrodysplasia	Chronic kidney disease, Hematuria, Proteinuria	ORPHA:1855
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98908
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria	OMIM:619377
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholeste...	ORPHA:534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst	OMIM:208500
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency	OMIM:610965
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia...	ORPHA:77293
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Elevated circulating creatine kinas...	OMIM:309000
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu...	OMIM:122470
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts	OMIM:214100
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Cockayne Syndrome Type 1	Proteinuria, Renal insufficiency	ORPHA:90321
Melas	Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy	ORPHA:550
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Wilson Disease	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein...	OMIM:277900
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Renal tubular acidosis, Proteinuria, Decreased urin...	ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, F...	OMIM:256040
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ...	ORPHA:447
Adult-Onset Still Disease	Proteinuria	ORPHA:829
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Immunoglobulin A Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:761
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Aromatase Deficiency	Eunuchoid habitus, Obesity, Hyperlipidemia	ORPHA:91
Cocaine Intoxication	Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis	ORPHA:90068
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ...	ORPHA:99885
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Lipodystrophy, Congenital Generalized, Type 2	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:269700
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re...	ORPHA:91500
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Fabry Disease	Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m...	ORPHA:324
Atypical Werner Syndrome	Decreased body weight, Failure to thrive, Hypertriglyceridemia	ORPHA:79474
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Mercury Poisoning	Hypokalemia	ORPHA:330021
Familial Mediterranean Fever	Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria	ORPHA:342
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy	ORPHA:900
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Obesity, Hypertriglyceridemia, Decreased HDL cholesterol concent...	ORPHA:110
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Failure to thrive, Hypertriglyceridemia	OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Bartter Syndrome, Type 3	Hypokalemia, Hyperchloriduria, Increased circulating renin level	OMIM:607364
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Holoprosencephaly	Proteinuria, Hypoplasia of penis, Abnormality of the urinary system	ORPHA:2162
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder...	ORPHA:191
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Pearson Syndrome	Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria	ORPHA:699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Orofaciodigital Syndrome Type 1	Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency	ORPHA:2750
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Postinfectious Vasculitis	Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis	ORPHA:48435
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis	OMIM:617913
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Relapsing Polychondritis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:728
Aymé-Gripp Syndrome	Proteinuria	ORPHA:1272
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Acute kidney injury, Anuria	ORPHA:90038
Wiedemann-Rautenstrauch Syndrome	Slender build, Failure to thrive, Hypertriglyceridemia	ORPHA:3455
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Cockayne Syndrome B	Micropenis, Proteinuria, Renal insufficiency	OMIM:133540
Cockayne Syndrome A	Micropenis, Proteinuria, Renal insufficiency	OMIM:216400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria	OMIM:619269
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:602522
Williams Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi...	ORPHA:904
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Kawasaki Disease	Proteinuria, Sterile pyuria	ORPHA:2331
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Gaucher Disease	Hematuria, Proteinuria	ORPHA:355
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I...	OMIM:241200
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Crimean-Congo Hemorrhagic Fever	Hematuria, Proteinuria	ORPHA:99827
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis	OMIM:619525
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep...	ORPHA:95455
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Obesity, Hyperlipidemia	ORPHA:293987
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Nelson Syndrome	Hypokalemia	ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Scorpion Envenomation	Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co...	ORPHA:466677
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Alström Syndrome	Obesity, Hyperlipidemia, Truncal obesity, Hypertriglyceridemia	ORPHA:64
Pmm2-Cdg	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts	ORPHA:79318
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286
Pontocerebellar Hypoplasia, Type 9		OMIM:615809
Spastic Paraplegia 63, Autosomal Recessive		OMIM:615686

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ampd2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ampd2.

No publications found that use IMPC mice or data for Ampd2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ampd2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ampd2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ampd2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ampd2 MGI:88016

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

X-ray

X-ray

Adult LacZ

Embryo LacZ

Human diseases caused by Ampd2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data