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Gene: Adcy6 MGI:87917

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Gene Summary

Name:
adenylate cyclase 6
Synonyms:
AC6

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
increased circulating alkaline phosphatase level Adcy6tm1.1(KOMP)Vlcg HOM Early adult 1.25×10-05
increased blood urea nitrogen level Adcy6tm1.1(KOMP)Vlcg HOM Early adult 2.81×10-05

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

145 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Adcy6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adcy6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Oral-pharyngeal dysphagia OMIM:616287
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680

The table below shows human diseases predicted to be associated to Adcy6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium... OMIM:613090
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... OMIM:602522
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239510
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Saccharopinuria
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... OMIM:268700
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullar... OMIM:143880
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Edema, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasi... ORPHA:97362
Tiglic Acidemia
Aminoaciduria OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... OMIM:300971
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Phenylketonuria
Aminoaciduria ORPHA:716
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia OMIM:125800
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia OMIM:304800
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Hyper-Beta-Alaninemia
Increased urinary taurine, Hyperbeta-alaninemia OMIM:237400
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Central Diabetes Insipidus
Hyponatremia, Anorexia, Dehydration, Polydipsia, Nocturia ORPHA:178029
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic... ORPHA:488627
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Anorexia, Polyhydramnios, Functional... ORPHA:223
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... OMIM:603358
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... OMIM:617671
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Hyperlysinuria OMIM:238700
Homocarnosinosis
Carnosinuria OMIM:236130
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... OMIM:612780
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test OMIM:229100
Cystinosis
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Hypokale... ORPHA:213
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis OMIM:260005
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
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
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Galactosemia Iii
Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia OMIM:238750
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia OMIM:605899
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232200
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Polyhydramnios, Renal salt wasting,... OMIM:241200
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... OMIM:605850
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Alkaptonuria
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... OMIM:232220
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium ORPHA:231580
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... OMIM:232240
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Anasarca, Hyp... OMIM:618183
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... ORPHA:91500
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid... OMIM:271980
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios OMIM:267430
Argininosuccinic Aciduria
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Galactosemia I
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... OMIM:230400
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... OMIM:616299
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Familial Cold Urticaria
Polydipsia, Dehydration ORPHA:47045
Systemic Capillary Leak Syndrome
Renal insufficiency, Pulmonary edema, Oliguria, Pedal edema, Pleural effusion, Abnormal renal tub... ORPHA:188
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... ORPHA:173
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria ORPHA:95513
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Oliguria, Anorexia ORPHA:514
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... ORPHA:31824
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusio... ORPHA:358
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Acute kidney... ORPHA:542323
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Erdheim-Chester Disease
Renal insufficiency, Polydipsia, Dysuria, Joint swelling, Pleural effusion, Hydronephrosis ORPHA:35687
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Xerostomia, Oliguria, Dysphagia ORPHA:220393
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Lassa Fever
Facial edema, Oliguria, Dysphagia ORPHA:99824
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia ORPHA:537
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... ORPHA:731
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... OMIM:603471
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Whipple Disease
Hyponatremia, Polydipsia, Anorexia, Pedal edema ORPHA:3452
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:208085
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria OMIM:207800
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia, Oligohydramnios ORPHA:525731
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... ORPHA:399
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Dehydration, Hemoglobinuria,... ORPHA:90038
Rabson-Mendenhall Syndrome
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... ORPHA:812
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Bartter Syndrome Type 4
Hyponatremia, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal con... ORPHA:89938
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Edema, Hyperkalemia, Oliguria, Pleural empyema, Hypocalcemia, Acute kidney ... ORPHA:544482
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Facial edema, Periorb... ORPHA:319213
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresis, Self-injurious behavio... ORPHA:293987
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... ORPHA:209905
D-Glyceric Aciduria
Aminoaciduria, Tongue thrusting, Nonketotic hyperglycinemia, Micropenis OMIM:220120
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methyl... OMIM:612073
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Dysphagia, Hypercholesterolemia, Pleural effusion OMIM:606721
Acute Promyelocytic Leukemia
Hematuria, Addictive alcohol use, Anorexia ORPHA:520
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Argininosuccinic Aciduria
Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, ... OMIM:207900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity, Oligohydr... OMIM:619351
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney ORPHA:166119
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Cerebral edema, Elevated circulating C-reactive protein conc... ORPHA:1930
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Acute Lung Injury
Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea... ORPHA:178320
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure, Edema ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Elevated hepatic iron concentration OMIM:614946
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Palpebral edema, Polycys... OMIM:214110
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydramnios, Elevated urine fuma... OMIM:606812
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use ORPHA:31825
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Hype... OMIM:222700
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... ORPHA:57777
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria, Lymphedema OMIM:609242
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Elevated circulating long chain fatty acid co... OMIM:214100
Staphylococcal Necrotizing Pneumonia
Pleural effusion, Addictive alcohol use, Elevated circulating C-reactive protein concentration, P... ORPHA:36238
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behav... ORPHA:534
Alkaptonuria
Joint swelling, Aminoaciduria, Nephrolithiasis ORPHA:56
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Interstitial Lung And Liver Disease
Aminoaciduria, Hyperammonemia OMIM:615486
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Addictive alcohol use ORPHA:90065
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria OMIM:124000
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Oral-pharyngeal dysphagia OMIM:616287
Hypomyelination Neuropathy-Arthrogryposis Syndrome
ORPHA:2680

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 Adcy6

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 Adcy6.

No publications found that use IMPC mice or data for Adcy6.

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MGI Allele Allele Type Produced
Adcy6tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Adcy6tm84069(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adcy6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Adcy6tm84069(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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