Gene Summary

Name:
adenylate cyclase 6
Synonyms:
AC6

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Adcy6tm1.1(KOMP)Vlcg HOM Early adult 2.74×10-05
increased circulating alkaline phosphatase level Adcy6tm1.1(KOMP)Vlcg HOM Early adult 1.54×10-05

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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
blood 0.0%
bone marrow 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.71% (21 of 368)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
chest bone Unavailable
colon 16.06% (22 of 137)
diaphragm 0.0%
duodenum 3.73% (5 of 134)
epididymis 13.89% (20 of 144)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.34% (2 of 581)
hindlimb 0.0%
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
ileum 13.77% (19 of 138)
jejunum 8.89% (12 of 135)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
stomach pyloric region 0.0%
striatum 0.52% (3 of 578)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
tongue 3.65% (5 of 137)
trachea 0.52% (3 of 579)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.68% (18 of 385)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

145 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Azotemia, Familial
Azotemia OMIM:109160
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis, Polydipsia OMIM:304900
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease OMIM:618061
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239510
Saccharopinuria
Histidinuria, Citrullinuria, Elevated circulating sacchoropine concentration, Hyperlysinuria, Sac... OMIM:268700
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Tiglic Acidemia
Aminoaciduria OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi... ORPHA:2260
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Polyhydramnios, Hyponat... OMIM:300971
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level OMIM:613677
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... ORPHA:93101
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Camptodactyly 1
Increased urinary taurine OMIM:114200
Phenylketonuria
Aminoaciduria ORPHA:716
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... OMIM:248250
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:125800
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Dehydration, Increased circula... OMIM:607364
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:304800
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Dehydration, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis OMIM:143880
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... OMIM:612780
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Helix Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficienc... OMIM:617671
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... OMIM:603358
Distal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, De... ORPHA:18
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Homocarnosinosis
Carnosinuria OMIM:236130
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis,... OMIM:239200
Nephrogenic Diabetes Insipidus
Polydipsia, Hyposthenuria, Hydroureter, Hypernatremic dehydration, Hypernatremia, Functional abno... ORPHA:223
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... ORPHA:567548
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
East Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Increased circulating renin level, Renal m... ORPHA:199343
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Central Diabetes Insipidus
Dehydration, Polydipsia, Nocturia, Hyponatremia ORPHA:178029
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydration,... ORPHA:213
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circ... ORPHA:320
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:601678
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... OMIM:232200
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increas... OMIM:263800
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Polydipsia, Increased urinary potassium, Ren... OMIM:241200
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Edema, Stag... OMIM:615573
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Alkaptonuria
Nephrolithiasis, Elevated urinary homogentisic acid, Decreased glomerular filtration rate OMIM:203500
Glycogen Storage Disease Ic
Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Focal segmental glomeruloscleros... OMIM:232240
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Polyhydramnios, Hy... OMIM:618183
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... OMIM:605850
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... OMIM:232220
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Oral aversion, Decreased glomerular filtration rate... ORPHA:470
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pulmonary edema, Decreased glomerular filtration rate, Glomerulonephritis... ORPHA:340
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Polyuria, Proximal tubulopathy OMIM:560000
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydration,... ORPHA:411629
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Hypercalciuria ORPHA:251274
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Polydipsia, Hypokalemia, Increased urinary potassium ORPHA:231580
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Hyperlysinuria, Abnormality of circula... ORPHA:3124
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, ... OMIM:219800
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Proximal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Hyperuricosuria, Dehydration, Glycosuria... ORPHA:47159
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Polyphagia, Cystinuria ORPHA:163690
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... ORPHA:84081
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Focal segmental ... OMIM:614748
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Oligohydramnios, Renotubular dysgenesis OMIM:267430
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia ORPHA:23
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria... ORPHA:91500
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia ORPHA:369929
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Re... ORPHA:93111
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal ... ORPHA:99880
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Parathyroid Carcinoma
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal ... ORPHA:143
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Chronic kidney disease, Hypophosphatemia, Bica... ORPHA:3337
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Methylmalonic acidemi... OMIM:612073
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... OMIM:211900
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... OMIM:227810
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Aminoaciduria OMIM:604273
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Systemic Capillary Leak Syndrome
Pulmonary edema, Abnormal renal tubule morphology, Oliguria, Pedal edema, Renal insufficiency, Pl... ORPHA:188
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria ORPHA:1933
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Dehydration, Abnormal blood ion concen... ORPHA:173
Familial Cold Urticaria
Dehydration, Polydipsia ORPHA:47045
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyperbilirubinemia, Pr... OMIM:613404
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Dysphagia, Renal hypoplasia, Hydronephrosis, Calcinosis OMIM:617913
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Panhypophysitis
Hyposthenuria, Hyponatremia, Polydipsia ORPHA:95513
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dehydration, Oliguria, Abnormal bloo... ORPHA:31824
Wolfram Syndrome
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... ORPHA:3463
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney ... ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Polydipsia, Salt craving, Noct... ORPHA:358
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Erdheim-Chester Disease
Dysuria, Joint swelling, Polydipsia, Renal insufficiency, Hydronephrosis, Pleural effusion ORPHA:35687
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Dysphagia, Xerostomia, Renal insufficiency ORPHA:220393
Lassa Fever
Oliguria, Dysphagia, Facial edema ORPHA:99824
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, E... ORPHA:731
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Hypertriglyceridemia, Elevated plasm... OMIM:603471
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Toxic Epidermal Necrolysis
Dysuria, Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia ORPHA:537
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... ORPHA:2088
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary differentiation, Am... OMIM:208085
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Pulmonary edema, Hematuria, Renal insufficiency, Decreas... ORPHA:31826
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Acute Monoblastic/Monocytic Leukemia
Oliguria, Periorbital edema ORPHA:514
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Whipple Disease
Polydipsia, Pedal edema, Hyponatremia ORPHA:3452
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Dehydration, Elevated circulating creatinine concentration, Unconjug... ORPHA:90038
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid concentration, Generalized a... OMIM:231680
Microscopic Polyangiitis
Glomerulopathy, Oliguria, Hematuria, Renal insufficiency ORPHA:727
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Increased C-peptide level, Long penis, Nephrocalcinosis ORPHA:769
Bartter Syndrome Type 4
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Hypokalemia... ORPHA:89938
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Aminoaciduria, Increased urinary O-linked sialo... ORPHA:812
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... OMIM:220110
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
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Oligohydramnios ORPHA:525731
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Generalized edema, Pleural empyema, Hyperkalemia, Olig... ORPHA:544482
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Netherton Syndrome
Dehydration, Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Facial edema, Generalized edema, Oliguria,... ORPHA:319213
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Horseshoe kidney OMIM:617140
Lipodystrophy, Familial Partial, Type 7
Polyuria, Hypertriglyceridemia, Pleural effusion, Hypercholesterolemia, Dysphagia OMIM:606721
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia, Hy... OMIM:207900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Fetal megacystis, Pyelonephritis, Oligohydramnios, Anuria, Mega... OMIM:619351
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Brain-Lung-Thyroid Syndrome
Hypospadias, Abnormal eating behavior, Abnormal drinking behavior, Vesicoureteral reflux, Megacystis ORPHA:209905
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Aminoaciduria, Micropenis OMIM:220120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Polyphagia, Hyponatremia, Enuresis ORPHA:293987
Sepsis In Premature Infants
Oliguria, Elevated circulating C-reactive protein concentration, Edema, Reversible renal failure ORPHA:90051
Fumarase Deficiency
Hyperbilirubinemia, Aminoaciduria OMIM:606812
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fatt... OMIM:214110
Kanzaki Disease
Lymphedema, Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Proteinuria, Renal insuff... OMIM:309000
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria OMIM:124000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia OMIM:619055
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Oliguria, Hyperphosphatemia, Ac... ORPHA:466650
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Dysphagia, ... OMIM:214100
Alkaptonuria
Nephrolithiasis, Joint swelling, Aminoaciduria ORPHA:56
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Oroticaciduria, Aminoaciduria, Hyperammonemia, Stag... OMIM:222700
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... ORPHA:447
Interstitial Lung And Liver Disease
Aminoaciduria, Hyperammonemia OMIM:615486
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
X-Linked Intellectual Disability, Armfield Type
Organic aciduria, Aminoaciduria, Galactosuria ORPHA:85276
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Joint swelling, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria... ORPHA:534
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Pulmonary edema, Aminoaciduria, Hyper... OMIM:619991
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Lethal Congenital Contracture Syndrome 8
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
Adcy6tm84069(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adcy6tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
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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