Gene Summary

Name:
integrin linked kinase
Synonyms:
ESTM24

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Ilktm1.1(KOMP)Vlcg HET   Early adult 3.81×10-05
embryonic lethality prior to organogenesis Ilktm1.1(KOMP)Vlcg HOM   E9.5 0.00
hyperactivity Ilktm1.1(KOMP)Vlcg HET   Early adult 8.48×10-07
abnormal embryo size Ilktm1.1(KOMP)Vlcg HET E9.5 0.00
preweaning lethality, complete penetrance Ilktm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased vertical activity Ilktm1.1(KOMP)Vlcg HET Early adult 7.57×10-06
increased circulating phosphate level Ilktm1.1(KOMP)Vlcg HET Early adult 1.00×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
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 N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

Sleep Wake

Wake state (bmp file)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Ilk 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 Ilk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
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
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia, Patent d... OMIM:618845
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
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
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
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
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus OMIM:617661
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Redundant neck skin, Neonatal death, Renal ... OMIM:236500
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly OMIM:601355
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Spina b... OMIM:620439
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Renal insufficiency ORPHA:281090
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Purpura, Anuria, Hemolytic-uremic syndrome OMIM:235400
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Attention deficit hyperactivity disorder OMIM:619504
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Anorexia ORPHA:79283
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Umbilical hernia, Micropenis, Hypospadias, Patent ductus arteri... ORPHA:171839
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia ORPHA:85284
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arteriosus OMIM:618142
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Patent ductu... OMIM:609757
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Distal renal tubular acidosis, Pallor, Anorexia, Isothenuria OMIM:611590
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Pseudohypoparathyroidism, Type Ic
Cataract, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Patent ductus arteriosus, F... OMIM:619351
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Fliedner-Zweier Syndrome
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis,... OMIM:620511
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Distal Duplication 6P
Hydronephrosis, Dry skin, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus, Recurrent urinary tract in... OMIM:613680
Ehlers-Danlos Syndrome, Classic-Like, 1
Striae distensae, Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ... OMIM:617914
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Dysphagia OMIM:618494
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Dry skin, Death in infan... OMIM:614576
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Pallor, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Phenylketonuria
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Materna... OMIM:261600
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pseudohypoparathyroidism, Type Ia
Cataract, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Unilateral renal agenesis, Cutis laxa, Premature skin wrinkling OMIM:616603
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Umbilical hernia, Aggressive behavior, Motor stereotyp... OMIM:618914
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Oliguria, Renal insufficiency, Dysphagia ORPHA:220393
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Lassa Fever
Oliguria, Dysphagia, Miscarriage ORPHA:99824
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Branch... OMIM:113650
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Verheij Syndrome
Renal cyst, Renal hypoplasia, Branchial cyst, Renal agenesis OMIM:615583
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Pallor, Abnormal renal morphology OMIM:609053
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Tortuosity of conjunctival vessels OMIM:248510
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Cach Syndrome
Renal hypoplasia, Dysphagia ORPHA:135
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Microscopic Polyangiitis
Erythema, Oliguria, Skin ulcer, Renal insufficiency, Hematuria, Glomerulopathy ORPHA:727
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia OMIM:127000
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux OMIM:619955
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia ORPHA:85321
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Renal ... OMIM:619227
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis OMIM:211900
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Redundant neck skin, Micropenis, Dysphagia, Patent d... ORPHA:96170
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... OMIM:615516
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Peripheral Cone Dystrophy
Pallor OMIM:609021
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor, Pseudobulbar paralysis OMIM:606353
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections, Micropenis, Pate... OMIM:609029
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Isolated Atp Synthase Deficiency
Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux OMIM:619951
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosis, Conjuncti... ORPHA:79444
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Shashi-Pena Syndrome
Unilateral renal agenesis, Patent ductus arteriosus OMIM:617190
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Retinitis Pigmentosa 51
Pallor, Abnormality of the kidney OMIM:613464
Rauch-Steindl Syndrome
Bilateral renal hypoplasia, Hyperechogenic kidneys, Aggressive behavior, Hyperactivity, Motor ste... OMIM:619695
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux OMIM:617660
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Ataxia OMIM:615924
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Cal... ORPHA:79443
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation OMIM:619758
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Dry skin, Umbilical hernia ORPHA:1035
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Cystinosis
Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Corneal opacity, Motor stereotypy ORPHA:213
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Elevat... ORPHA:94080
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Petechiae, Pallor, Purpura ORPHA:90051
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus after premature birth OMIM:620454
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:616541
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Umbilical hernia, Dry skin, Vesicoureteral reflux, P... OMIM:620654
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Pallor OMIM:613561
Lujo Hemorrhagic Fever
Oliguria, Renal insufficiency, Ecchymosis, Microscopic hematuria, Dysphagia, Purpura ORPHA:319213
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cholera
Acute kidney injury, Palmoplantar cutis laxa, Decreased urine output, Abnormality of renal excret... ORPHA:173
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Pallor, Anorexia OMIM:500007
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Spinal dysraphism, Nephroblastoma OMIM:612918
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Patent ductus arteriosus OMIM:616737
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Childhood Absence Epilepsy
Urinary incontinence, Attention deficit hyperactivity disorder, Pallor, Punding ORPHA:64280
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Abnormal urinary color ORPHA:90037
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Patent ductus arteriosus, Pel... OMIM:601186
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Rheumatic Fever
Nephrotic syndrome, Pallor, Erythema, Anorexia ORPHA:3099
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias OMIM:248700
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Cold Agglutinin Disease
Pallor, Abnormal urinary color ORPHA:56425
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Patent ductus arteriosus, Neonatal death OMIM:620024
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Dicarboxylic aciduria ORPHA:159
Breath-Holding Spells
Pallor OMIM:607578
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Agitation ORPHA:276608
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Pallor, Agitation ORPHA:276556
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Patent ductus arteriosus OMIM:603467
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Patent ductus arteriosus, Enlarged kidney, Umbilical hernia OMIM:618188
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Patent ductus arteriosus after premature birth, Hydronep... OMIM:618460
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Hydronephrosis, Aggressive behav... ORPHA:96121
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Yellow Fever
Acute kidney injury, Renal insufficiency, Anuria ORPHA:99829
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Motor stereotypy, Attention d... ORPHA:464311
Optic Atrophy 1
Pallor OMIM:165500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney ORPHA:3109
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Pallor, Agitation ORPHA:276575
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract ORPHA:93325
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Erythema, Umbilical hernia, Hydronephrosis, Stillbirth OMIM:308050
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Abnormal urinary color ORPHA:90036
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Dysphagia OMIM:617913
Hyperlysinemia, Type I
Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Hyperactivity, Dysdiadochokinesis OMIM:238700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Pallor, Agitation ORPHA:276580
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Pallor, Proteinuria, Renal Fanconi syndrome, Agitation ORPHA:263455
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides OMIM:101800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Protei... ORPHA:276621
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Pallor, Agitation ORPHA:324575
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Anorexia ORPHA:49827
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder OMIM:614083
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... ORPHA:31826
Hemoglobin D Disease
Pallor ORPHA:90039
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Motor stereotypy, Hyperactivi... ORPHA:464306
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Bardet-Biedl Syndrome 17
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Renal cy... OMIM:618454
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Pseudotrisomy 13 Syndrome
Micropenis, Encephalocele, Renal hypoplasia, Renal agenesis OMIM:264480
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Proximal tubulopathy, Polyuria, Death in childhood OMIM:560000
Idiopathic Pulmonary Hemosiderosis
Pallor, Glomerulonephritis ORPHA:99931
Helix Syndrome
Hypocalciuria, Polydipsia, Dry skin, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Cerebrofacioarticular Syndrome
Self-injurious behavior, Renal hypoplasia, Hypospadias ORPHA:314679
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Scaling skin, Dry skin OMIM:618419
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Caudal Duplication
Abnormal penis morphology, Myelomeningocele, Renal hypoplasia/aplasia, Spina bifida, Ureteral dup... ORPHA:1756
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Megacystis OMIM:125800
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Megacystis OMIM:304800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system... ORPHA:468631
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Encephalocele, Renal cyst, Stillbirth, Patent ductus arteriosus OMIM:616300
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine... OMIM:246450
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Umbilical hernia, Recurrent urinary tract infections ORPHA:221139
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Attention deficit hyp... ORPHA:261222
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence, Dysphagia, Titubation, Abnormal posturing ORPHA:225147
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the blad... ORPHA:2547
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Patent ductus arteriosus, Abnormal posturing, Methylmalonic aciduria OMIM:614857
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... ORPHA:731
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Spina bifida, Nephroblastoma ORPHA:2874
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Protei... ORPHA:29072
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Kinsship Syndrome
Renal hypoplasia, Horseshoe kidney, Bruxism, Death in infancy, Motor stereotypy OMIM:619297
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Dry skin, Pyelonephritis, Renal insufficiency OMIM:181270
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... ORPHA:3077
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Abnormal urinary color ORPHA:90033
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Neonatal death, Anencephaly, Patent ductus arteriosus, Cystic renal dysplasia OMIM:269860
Cornelia De Lange Syndrome 1
Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesico... OMIM:122470
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Beta-Ketothiolase Deficiency
Ketonuria, Pallor, Oral aversion, Anorexia, Agitation ORPHA:134
Dravet Syndrome
Pallor, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ... OMIM:270400
Leishmaniasis
Pallor, Skin ulcer, Anorexia ORPHA:507
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Premature skin wrinkling, Pyelonephritis, Redundant skin, Redundant ne... ORPHA:90348
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Patent ductus arteriosus, Se... OMIM:213980
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Cutis laxa, Nephrotic syndrome... OMIM:105120
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... ORPHA:93930
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hyperactivity ORPHA:457284
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Restlessness, Dysphagia, Agitation ORPHA:13
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Umbilical hernia, Renal hypoplasia/aplasia ORPHA:1770
Primary Myelofibrosis
Pallor, Petechiae, Ecchymosis, Anorexia, Purpura ORPHA:824
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Branchial fistula, Patent du... ORPHA:261337
Van Maldergem Syndrome 2
Micropenis, Renal hypoplasia, Hypospadias OMIM:615546
Hereditary Folate Malabsorption
Anorexia, Pallor, Recurrent urinary tract infections ORPHA:90045
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:300971
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype... ORPHA:466650
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia OMIM:600081
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea...