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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	Allele	Zyg	Life Stage	P Value
increased circulating cholesterol level	Ampd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Ampd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating amylase level	Ampd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.22×10^-12
increased circulating potassium level	Ampd2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.72×10^-05
decreased circulating fructosamine level	Ampd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.37×10^-05
increased circulating HDL cholesterol level	Ampd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.11×10^-16

Download data as: TSV XLS

Select physiological systems to view:

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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	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Vascular system	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
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)
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)
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)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
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.

Embryo LacZ

LacZ images wholemount

8 Images

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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

MicroCT E18.5

Embryo reconstruction

4 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 (635 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, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole...	OMIM:616222
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Galactokinase Deficiency	Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole...	ORPHA:79237
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Obesity	ORPHA:329249
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Obesity	ORPHA:77296
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity	ORPHA:96184
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Preeclampsia	Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney	ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration, Decreased ...	ORPHA:444490
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Obesity	ORPHA:66628
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Obesity	ORPHA:179494
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia, Failure to thrive	ORPHA:2089
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Obesity	ORPHA:69663
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Liddle Syndrome	Hypokalemia	ORPHA:526
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Fanconi-Bickel Syndrome	Failure to thrive, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Truncal obesity, Hyperuricemia	OMIM:203800
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia	OMIM:617591
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration	ORPHA:98907
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper...	ORPHA:90674
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Papa Syndrome	Proteinuria	ORPHA:69126
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Cryoglobulinemic Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:91138
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Microtriplication 11Q24.1	Hyperlipidemia, Obesity	ORPHA:289522
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	ORPHA:1830
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology	OMIM:274150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Fabry Disease	Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria	OMIM:301500
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia	OMIM:307030
Hypocomplementemic Urticarial Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:36412
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Autosomal Recessive Spastic Paraplegia Type 63	Decreased body weight	ORPHA:401805
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t...	ORPHA:79259
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero...	OMIM:242900
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re...	ORPHA:33001
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr...	OMIM:617303
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Ohdo Syndrome	Proteinuria	OMIM:249620
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232200
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619418
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:77297
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Legionnaires Disease	Hematuria, Renal insufficiency, Proteinuria	ORPHA:549
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232220
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Proteinuria	ORPHA:247691
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration	ORPHA:98908
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer...	OMIM:232240
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Systemic Sclerosis	Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d...	ORPHA:90291
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g...	ORPHA:505248
Martin-Probst Syndrome	Renal insufficiency, Micropenis, Chordee, Proteinuria	OMIM:300519
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr...	ORPHA:2035
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:606721
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst	OMIM:212065
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Spondyloenchondrodysplasia	Hematuria, Chronic kidney disease, Proteinuria	ORPHA:1855
Gaucher Disease Type 1	Hematuria, Proteinuria	ORPHA:77259
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti...	ORPHA:340
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterole...	ORPHA:534
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria	OMIM:610965
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Melas	Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis	ORPHA:550
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria	ORPHA:90321
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu...	ORPHA:358
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Elevated circul...	OMIM:256040
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Immunoglobulin A Vasculitis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:761
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury	ORPHA:90068
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:342
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn...	ORPHA:324
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Atypical Werner Syndrome	Failure to thrive, Hypertriglyceridemia, Decreased body weight	ORPHA:79474
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob...	ORPHA:91500
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Obesity	ORPHA:91
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis	ORPHA:900
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:264090
Mercury Poisoning	Hypokalemia	ORPHA:330021
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Holoprosencephaly	Hypoplasia of penis, Abnormality of the urinary system, Proteinuria	ORPHA:2162
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Postinfectious Vasculitis	Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis	ORPHA:48435
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Relapsing Polychondritis	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:728
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Aymé-Gripp Syndrome	Proteinuria	ORPHA:1272
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Slender build	ORPHA:3455
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Cockayne Syndrome B	Renal insufficiency, Micropenis, Proteinuria	OMIM:133540
Cockayne Syndrome A	Renal insufficiency, Micropenis, Proteinuria	OMIM:216400
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Kawasaki Disease	Proteinuria, Sterile pyuria	ORPHA:2331
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Williams Syndrome	Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr...	ORPHA:904
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Gaucher Disease	Hematuria, Proteinuria	ORPHA:355
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
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	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	Hyponatremia, Hypokalemia	OMIM:618426
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria	OMIM:619525
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Nelson Syndrome	Hypokalemia	ORPHA:199244
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Alström Syndrome	Truncal obesity, Hyperlipidemia, Hypertriglyceridemia, Obesity	ORPHA:64
Pmm2-Cdg	Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria	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

Embryo LacZ

X-ray

X-ray

Adult LacZ

MicroCT E18.5

Human diseases caused by Ampd2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data