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Gene: Wnt11 MGI:101948

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Gene Summary

Name:
wingless-type MMTV integration site family, member 11
Synonyms:
N/A

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
hydrometra Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased blood urea nitrogen level Wnt11tm1.1(KOMP)Vlcg HOM Early adult 1.76×10-05
abnormal heart morphology Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Wnt11tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 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
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 50% (1 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 50% (1 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 50% (1 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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.

X-ray

XRay Images Forepaw

8 Images

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Adult LacZ

LacZ Images Section

103 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Hind Leg and Hip

8 Images

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Human diseases caused by Wnt11 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 Wnt11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Ethanolaminosis
Cardiomegaly OMIM:227150
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruc... OMIM:154230
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia ORPHA:85284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Renal agenesis ORPHA:171839
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Renal hypoplasia OMIM:620439
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... ORPHA:231111
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... OMIM:158330
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Acute kidney injury, Impotence, Elevated circulating creatinine concentration, Unilat... ORPHA:49041
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperuricemia, Hyponatremia, Proteinuria, Increased blood... OMIM:613845
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux OMIM:619955
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Cach Syndrome
Renal hypoplasia ORPHA:135
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... ORPHA:2237
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Isolated Atp Synthase Deficiency
Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Renal dysplasia ORPHA:85321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology ORPHA:85447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux OMIM:609053
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula... OMIM:223360
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... ORPHA:251004
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections OMIM:609029
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen... ORPHA:465508
Cockayne Syndrome Type 1
Male hypogonadism, Renal insufficiency, Cryptorchidism, Proteinuria, Increased blood urea nitroge... ORPHA:90321
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia OMIM:269920
Emanuel Syndrome
Micropenis, Unilateral renal agenesis, Renal hypoplasia ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:619051
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Rauch-Steindl Syndrome
Miscarriage, Bilateral renal hypoplasia, Hyperechogenic kidneys OMIM:619695
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia OMIM:619064
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma OMIM:612918
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Hyperkalemia... ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Pelvic kidney, Microphallus OMIM:603467
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... OMIM:300280
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrop... OMIM:222300
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... ORPHA:230
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... ORPHA:42
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Pseudotrisomy 13 Syndrome
Micropenis, Renal hypoplasia, Renal agenesis OMIM:264480
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy... OMIM:201475
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis OMIM:617913
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... ORPHA:228308
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia, Neonatal death OMIM:269860
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux OMIM:620654
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Van Maldergem Syndrome 2
Micropenis, Renal hypoplasia, Hypospadias OMIM:615546
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... OMIM:620609
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... OMIM:601005
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma ORPHA:2874
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... OMIM:122470
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... OMIM:616897
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Death in infancy OMIM:619297
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... OMIM:130650
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... OMIM:266500
Ulnar-Mammary Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... OMIM:617713
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia OMIM:614083
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Testicular atrophy OMIM:300322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... OMIM:608836
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hyperammonemia, Hypertrophic ... ORPHA:391428
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... ORPHA:57777
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pelvic kidney ORPHA:508498
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... OMIM:620306
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ... OMIM:270400
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypoplasia/aplasia, Duplicated collec... ORPHA:2911
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia ORPHA:264200
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia, Single ventricle OMIM:619879
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Proteinuria, Neurogenic bladder... ORPHA:191
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Sickle Cell Disease
Cholelithiasis, Priapism, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly OMIM:603903
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol... ORPHA:991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Death in childhood, Death in infancy, Renal cyst, Stillbirth, Micropenis, Polyc... OMIM:210710
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia OMIM:620005
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Renpenning Syndrome 1
Renal hypoplasia, Hypospadias, Death in childhood, Phimosis OMIM:309500
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,... OMIM:309801
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Renal hypoplasia, Ureteral stenosis OMIM:270100
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Elevated circulating creatine ... OMIM:614921
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
22Q11.2 Deletion Syndrome
Renal hypoplasia, Vesicoureteral reflux, Multiple renal cysts, Polycystic kidney dysplasia, Hypos... ORPHA:567
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Renal hypoplasia OMIM:619321
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... OMIM:300257
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Williams Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Death in early adulthood,... ORPHA:904
Fucosidosis
Hepatomegaly, Hypothyroidism, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Fraser Syndrome 1
Micropenis, Renal hypoplasia, Hypospadias, Renal hypoplasia/aplasia OMIM:219000
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Diamond-Blackfan Anemia 1
Renal hypoplasia OMIM:105650
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:308552
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Renal hypoplasia, Recurrent urinary tract infections OMIM:617157
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Townes-Brocks Syndrome
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... ORPHA:857
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery stenosis, Ve... OMIM:194050
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Hypophosphatemic rickets, Renal artery stenosis, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Ii
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... OMIM:232300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Unilateral renal hypoplasia OMIM:619950
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Hypospadias OMIM:135900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy, Elevated circulating creatine kinase c... ORPHA:268
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... OMIM:619991
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatomegaly, Visceromegaly, Abnormal pancreas morphology, Hypertrop... ORPHA:116
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux ORPHA:2363
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Ureth... OMIM:107480
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Okamoto Syndrome
Aortic valve stenosis, Urinary incontinence, Abnormal heart morphology, Unilateral renal hypoplas... ORPHA:2729
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria OMIM:619259
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepatomegaly ORPHA:137675
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Abnormality of the ... ORPHA:508488
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Elevated circulating C-r... OMIM:620376
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Ogden Syndrome
Secundum atrial septal defect, Decreased testicular size, Hyperbilirubinemia, Cryptorchidism, Pat... OMIM:300855
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Alport Syndrome 3A, Autosomal Dominant
Nephritis, Nephrocalcinosis, Stage 5 chronic kidney disease, Renal insufficiency, Hematuria, Prot... OMIM:104200
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atrioventricular canal defect, Vesicou... OMIM:274000
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Micropenis, Renal hypoplasia, Vesicoureteral reflux, Hypospadias OMIM:309580
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hydronephrosis, Micropenis OMIM:214800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty OMIM:615866
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Renal hypoplasia, Hypospadias OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Goodpasture Syndrome
Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Glomerulonephritis, Incre... OMIM:233450
Orofaciodigital Syndrome Xiv
Micropenis, Unilateral renal hypoplasia, Epispadias OMIM:615948
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular septal defect, Hy... OMIM:236680
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hy... OMIM:618419
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Ectopic kidney ORPHA:3063
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... ORPHA:581
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt... ORPHA:273
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... ORPHA:3472
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc... OMIM:252500
Fucosidosis
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Cryptorchidism, Patent foramen ovale OMIM:620371
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Microphthalmia, Syndromic 6
Renal hypoplasia OMIM:607932
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... OMIM:256040
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru... OMIM:618278
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho... ORPHA:97297
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Hypothyroidism, Micropenis, Diabet... ORPHA:51
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cervical ins... OMIM:130050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:365
Neu-Laxova Syndrome 1
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter... OMIM:256520
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Ventricular septal defect, Aplasia of the uterus, Atrial sept... OMIM:194190
Microphthalmia, Syndromic 1
Renal hypoplasia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia OMIM:309800
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Congenital hypothyroidism, Cryptorchidism, ... ORPHA:709
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... ORPHA:75565
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Adrenal calcification, Medu... ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Uterine prolapse, Mi... ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Supernumerary nipple, Hypertrophic cardiomyopathy, Cryptorc... OMIM:601803
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250

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 Wnt11

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 Wnt11.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Image-based modeling of kidney branching morphogenesis reveals GDNF-RET based Turing-type mechanism and pattern-modulating WNT11 feedback. Nature communications (January 2019) Wnt11tm1a(KOMP)Wtsi PMC6484223
Wnt11 directs nephron progenitor polarity and motile behavior ultimately determining nephron endowment. eLife (December 2018) Wnt11tm1a(KOMP)Wtsi PMC6281319

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Wnt11tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Wnt11tm299234(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Wnt11tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wnt11tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Wnt11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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