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Gene: Fbxw15 MGI:3505701

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Gene Summary

Name:
F-box and WD-40 domain protein 15
Synonyms:
Fbxo12J

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
abnormal zygomatic bone morphology Fbxw15em1(IMPC)Ccpcz HOM Early adult 8.12×10-05
preweaning lethality, incomplete penetrance Fbxw15em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating phosphate level Fbxw15em1(IMPC)Ccpcz HOM Early adult 4.67×10-06
single kidney Fbxw15em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lung morphology Fbxw15em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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XRay Images Hind Leg and Hip

32 Images

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XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Fbxw15 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxw15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Pulmonary fibrosis,... OMIM:618913
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna... ORPHA:2260
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... OMIM:612462
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administrati... OMIM:103580
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Abnormal dental enamel morphology, Microgn... ORPHA:2323
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Denta... OMIM:613680
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures OMIM:241410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Unilateral renal agenesis, Micrognathia, Micropenis, Retrognathia OMIM:618142
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Braddock Syndrome
Pulmonary fibrosis, Unilateral renal agenesis, Micrognathia ORPHA:52047
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Burn-Mckeown Syndrome
Mandibular prognathia, Renal hypoplasia, Unilateral renal agenesis, Micrognathia OMIM:608572
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... ORPHA:94089
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... OMIM:101800
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Micrognathia OMIM:609757
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Emanuel Syndrome
Broad jaw, Recurrent respiratory infections, Recurrent urinary tract infections, Unilateral renal... OMIM:609029
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... OMIM:239000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Chronic kidney disease, Elevated circulating ... ORPHA:340
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Proximal tubulopat... OMIM:614576
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Unilateral renal agenesis, Micrognathia ORPHA:245
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... ORPHA:79444
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Broad jaw, Unilateral renal agenesis... ORPHA:96170
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Micrognathia ORPHA:1064
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Pseudohypoparathyroidism Type 1A
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP re... ORPHA:79443
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d... ORPHA:2237
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Renal agenesis, Unilateral renal agenesis OMIM:619227
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis, Micrognathia OMIM:619951
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic... ORPHA:93325
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Shashi-Pena Syndrome
Retrognathia, Unilateral renal agenesis OMIM:617190
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic... OMIM:614527
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Enamel hypomineralization, Renal phosphate wasting, R... OMIM:307800
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Hypophosphatemia ORPHA:2611
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... ORPHA:79284
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... OMIM:619743
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Micropenis, Abnormal circulating lip... OMIM:616541
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Micrognathia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol... OMIM:308050
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Micrognathia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis, Dental malocclusion OMIM:616737
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... ORPHA:31824
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... OMIM:264700
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Micrognathia, Conjugated hyperbilirubinemia... OMIM:620305
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Microretrognathia, Hypospadias,... OMIM:270400
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Pulmonary hypoplasia, Hypophosphat... OMIM:259775
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:277440
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Micrognathia, Dental malocclusion, Enuresis, Retrognathia... ORPHA:96121
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Hypoplasia of the premaxilla, Unilateral renal agenesis ORPHA:2673
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Hypospadias, Unilateral renal agenesis, Retrognathia, Microphallus, Abnormal r... ORPHA:468631
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Nephrolithiasis, Hypophosphatemia ORPHA:93160
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent aspiration pneumonia, Unilateral renal agenesis ORPHA:221139
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... ORPHA:289157
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Micrognathia OMIM:614083
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, R... ORPHA:90324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypoplasia of the maxilla, Unilateral renal agenesis, Recurrent sinusitis, Micrognathia OMIM:213980
Cystinosis, Nephropathic
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... OMIM:219800
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Dental malocclusion, Total anomalous pulmonary venous ret... ORPHA:487796
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Retrognathia, Unilateral renal agenesis, Hydroureter OMIM:619194
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Unilateral renal agenesis OMIM:620024
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoac... ORPHA:534
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar... ORPHA:95699
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Micrognathia, Trismus, Temporomandibular joint ankylosis, Retrognathia OMIM:154400
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Hydronephrosis, Abnormal localization of kidney, Micrognathia ORPHA:1920
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonep... OMIM:181270
Zttk Syndrome
Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Hypoplasia of the maxilla, Horsesh... OMIM:617140
Treacher Collins Syndrome 3
Hypoplasia of the zygomatic bone, Micrognathia OMIM:248390
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Supernumerary tooth, ... ORPHA:268261
Leopard Syndrome 1
Mandibular prognathia, Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Bronchiolitis, E... ORPHA:90348
8Q24.3 Microdeletion Syndrome
Microretrognathia, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplas... ORPHA:508488
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone ORPHA:3074
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Micrognathia, Atelectasis, Recur... OMIM:188400
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, Chylothorax... ORPHA:3015
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Unilateral renal agenesis, Micrognathia ORPHA:261337
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Opsismodysplasia
Renal phosphate wasting, Recurrent respiratory infections, Hypophosphatemia OMIM:258480
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Mccune-Albright Syndrome
Hyperphosphaturia, Dental malocclusion, Renal phosphate wasting, Renal tubular dysfunction, Hypop... ORPHA:562
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate... ORPHA:289176
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoplasia of the zygoma... ORPHA:2715
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Micrognathia, Urinar... OMIM:619503
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:672
Fibrous Dysplasia Of Bone
Abnormal maxilla morphology, Hypercalcemia, Abnormal mandible morphology, Hypophosphatemia ORPHA:249
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary artery stenosis, Bilateral lung... OMIM:611812
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Bilateral renal dysplasia, Unilateral renal agenesis, Hypoplasia of the... ORPHA:500150
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Aplasia/Hypoplasia of the maxilla, Unilateral ren... ORPHA:141099
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... ORPHA:699
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Acro-Renal-Mandibular Syndrome
Micrognathia, Renal hypoplasia/aplasia, Abnormal lung lobation, Hypoplasia of the zygomatic bone,... ORPHA:958
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Carious teeth,... ORPHA:3253
X-Linked Hypophosphatemia
Odontodysplasia, Renal phosphate wasting, Hypocalciuria, Hypophosphatemia, Tooth abscess, Abnorma... ORPHA:89936
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone ORPHA:2835
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Recurrent u... OMIM:308205
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... ORPHA:93111
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1131
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary artery stenosis, Hypocalce... ORPHA:667
Prolidase Deficiency
Recurrent respiratory infections, Recurrent cystitis, Micrognathia, Carious teeth, Hypoplasia of ... ORPHA:742
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Hypoplasia of the zygomatic bone ORPHA:1295
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Carious teeth ORPHA:1110
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Hypoplasia of the zygomatic bone ORPHA:319171
Cleidocranial Dysplasia
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Abnormal dent... ORPHA:1452
Acrofacial Dysostosis, Catania Type
Microretrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Hypospadias ORPHA:1786
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone ORPHA:1778
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone ORPHA:710
Antley-Bixler Syndrome
Abnormal renal morphology, Hypoplasia of the zygomatic bone ORPHA:83
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morph... ORPHA:1812
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... ORPHA:1798
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Recurrent pneumonia, Retrognathia, Unilateral renal agenesis ORPHA:99646
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia OMIM:613717
Flat Face-Microstomia-Ear Anomaly Syndrome
Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1968
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:560
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypoplasia of the zygomatic bone OMIM:614800
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Aplasia/Hypoplasia of the lungs, Abnormality of t... ORPHA:2162
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Hypoplasia of the zygomatic bone OMIM:613603
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:193
Pancreatic Agenesis-Holoprosencephaly Syndrome
Reduced C-peptide level, Hypoplasia of the zygomatic bone, Hypoamylasemia ORPHA:556955
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Hydronephrosis ORPHA:1340
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology... ORPHA:2750
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypoplasia of the zygomatic bone ORPHA:1555
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal t... ORPHA:904
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hypospadias, Micrognathia, Abnormal mandible morphology, Hypopl... ORPHA:955
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:861
Hypoglossia-Hypodactyly Syndrome
Hypoplasia of the zygomatic bone, Micrognathia ORPHA:989
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of penis, Hypoplasia of the zygomatic bone ORPHA:920
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Neonatal death, Hypoplasia of the zygomatic bone OMIM:618500
Charge Syndrome
Delayed eruption of teeth, Horseshoe kidney, Hypoplasia of the zygomatic bone, Vesicoureteral ref... ORPHA:138
Ablepharon-Macrostomia Syndrome
Micropenis, Hypoplasia of the zygomatic bone OMIM:200110

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 Fbxw15

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 Fbxw15.

No publications found that use IMPC mice or data for Fbxw15.

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MGI Allele Allele Type Produced
Fbxw15em1(IMPC)Ccpcz Exon Deletion Mice

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