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 embryo size Ilktm1.1(KOMP)Vlcg HET E9.5 0.00
embryonic lethality prior to organogenesis Ilktm1.1(KOMP)Vlcg HOM   E9.5 0.00
hyperactivity Ilktm1.1(KOMP)Vlcg HET   Early adult 8.10×10-07
increased vertical activity Ilktm1.1(KOMP)Vlcg HET Early adult 7.37×10-06
preweaning lethality, complete penetrance Ilktm1.1(KOMP)Vlcg HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

Sleep Wake

Wake state (bmp file)

6 Images

X-ray

XRay Images Forepaw

13 Images

Embryo LacZ

LacZ images wholemount

8 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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Electroretinography 2

Rod and cone PDF

3 Images

Auditory Brain Stem Response

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

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
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Branchial cyst, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Death in infancy, Patent ductus arteriosus, Unilateral renal agenesis, ... OMIM:618845
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Redundant neck skin, Renal cyst, U... OMIM:236500
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Hemolytic-uremic syndrome, Proteinuria OMIM:612926
Sotos Syndrome 3
Hyperactivity OMIM:617169
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis OMIM:267430
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Bladder duplication, Penile hypospadias, Rectourethral fist... ORPHA:237
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Acute kidney injury, Purpura OMIM:235400
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Unilateral renal agenesis, Premature skin wrinkling OMIM:616603
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Stillbirth OMIM:274210
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Dysphagia, Hydronephrosis OMIM:618494
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Vesicoureteral reflux ORPHA:85284
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Patent ductus arteriosus, Unilateral renal agenesis OMIM:618142
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Umbilical hernia, Hypospadias, Microp... ORPHA:171839
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Patent ductus arteriosus OMIM:608406
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal in... OMIM:614922
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Dry skin ORPHA:1745
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Retinitis Pigmentosa 42
Pallor OMIM:612943
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Anuria, Patent ductus arteriosus, F... OMIM:619351
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Death in infancy, Patent ductus arteriosus, Unilateral renal agenesis, Hype... OMIM:614576
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia OMIM:222100
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Retinitis Pigmentosa 81
Pallor OMIM:617871
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Dysmetria, Attention deficit hyperactivity disorder, Ataxia OMIM:619191
Retinitis Pigmentosa 60
Pallor OMIM:613983
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output, Pallor ORPHA:544482
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Pallor, Distal renal tubular acidosis OMIM:611590
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scaling skin, Unilateral renal agenesis, Dry skin OMIM:618419
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Pallor OMIM:609053
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Unilateral renal agenesis, Umbilical hernia, Multicystic kidney dysplasia, Renal dy... OMIM:308205
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis OMIM:609757
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Polyuria, Hydronephrosis OMIM:304900
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Renal insufficiency, Skin ulcer, Oliguria ORPHA:220393
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Hydronephrosis, Aminoaciduria OMIM:617913
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus ar... ORPHA:363444
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal dysplasia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Emanuel Syndrome
Renal hypoplasia, Dysphagia, Patent ductus arteriosus, Unilateral renal agenesis, Redundant neck ... ORPHA:96170
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Optic Atrophy 9
Pallor OMIM:616289
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Hemoglobinuria, Acute kidney injury ORPHA:90038
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Peripheral Cone Dystrophy
Pallor OMIM:609021
Microscopic Polyangiitis
Hematuria, Erythema, Glomerulopathy, Oliguria, Renal insufficiency, Skin ulcer ORPHA:727
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Cach Syndrome
Renal hypoplasia, Dysphagia ORPHA:135
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter ORPHA:1046
Hypercalcemia, Infantile, 1
Hypercalciuria, Nephrocalcinosis, Polyuria, Nephrolithiasis OMIM:143880
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Senior-Loken Syndrome 8
Nephronophthisis, Pallor OMIM:616307
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia OMIM:616817
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Spina bifida occulta OMIM:619227
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Umbilical hernia, Abnormality of the ureter ORPHA:1035
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor OMIM:606353
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux, Spinal dysraphism OMIM:617660
Emanuel Syndrome
Renal hypoplasia, Renal agenesis, Micropenis, Patent ductus arteriosus OMIM:609029
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Oliguria, Abnormal tubulointerstitial morphology, Renal insuffi... ORPHA:340
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Ectopic kidney, Unilateral renal agenesis OMIM:616541
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Recurrent urinary tract infections,... OMIM:248250
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia ORPHA:75389
Yellow Fever
Renal insufficiency, Proteinuria, Nephropathy, Oliguria ORPHA:99829
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid in urine, 3-Methylglutaric ... OMIM:246450
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Optic Atrophy 1
Pallor OMIM:165500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Umbilical hernia OMIM:618914
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Pemphigus Erythematosus
Pruritus, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Sepsis In Premature Infants
Purpura, Reversible renal failure, Oliguria, Petechiae, Pallor ORPHA:90051
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Patent ductus arteriosus, Umbilical hernia, Vesicoureteral reflux... OMIM:618454
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Retinitis Pigmentosa 70
Pallor OMIM:615922
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri... ORPHA:94080
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... ORPHA:2842
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis OMIM:614083
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 70
Attention deficit hyperactivity disorder OMIM:618402
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis OMIM:616737
Exstrophy-Epispadias Complex
Bladder duplication, Spina bifida, Horseshoe kidney, Renal hypoplasia, Penoscrotal transposition,... ORPHA:322
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Patent ductus arterios... ORPHA:2970
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Acute kidney injury ORPHA:542323
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Marden-Walker Syndrome
Renal hypoplasia, Hypospadias, Micropenis OMIM:248700
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Pelvic kidney OMIM:156810
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Cholera
Palmoplantar cutis laxa, Decreased urine output, Acute kidney injury, Abnormality of renal excretion ORPHA:173
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Dysphagia, Patent ductus arteriosus, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis, Dry skin OMIM:617671
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Vesicouretera... OMIM:607323
Histidinemia
Hyperactivity ORPHA:2157
Retinitis Pigmentosa 27
Pallor OMIM:613750
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Fanconi Anemia, Complementation Group F
Microphallus, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Pelvic kidney OMIM:603467
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor ORPHA:90037
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Dicarboxylic aciduria ORPHA:159
Cold Agglutinin Disease
Abnormal urinary color, Pallor ORPHA:56425
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Patent ductus arteriosus, Renal dysplasia, Neonatal death, Renal c... OMIM:146510
Breath-Holding Spells
Pallor OMIM:607578
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Renal insufficiency, Dec... ORPHA:31826
7Q11.23 Microduplication Syndrome
Polyphagia, Patent ductus arteriosus, Unilateral renal agenesis, Enuresis, Hydronephrosis, Hyposp... ORPHA:96121
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor ORPHA:98375
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Myelomeningocele, Hydronephrosis, Spina bifida occulta OMIM:183802
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Retinitis Pigmentosa 73
Pallor OMIM:616544
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor ORPHA:90036
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Patent ductus arteriosus, Hydronephrosis, ... OMIM:601186
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Hydronephrosis, Pelvic kidney, H... ORPHA:464311
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Umbilical hernia, Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Urinary retention, ... ORPHA:90324
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Polyphagia ORPHA:276556
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Caudal Duplication
Spina bifida, Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication, Myelomen... ORPHA:1756
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Micropenis OMIM:264480
Caudal Regression Sequence
Renal agenesis, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney, Renal insuffici... ORPHA:3027
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Hydronephrosis, Pelvic kidney, H... ORPHA:464306
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Rheumatic Fever
Erythema, Pallor, Nephrotic syndrome ORPHA:3099
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis OMIM:300971
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Patent ductus arteriosus, Abnormality of the bladder, Abnormality of the upper urina... ORPHA:2547
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Polyphagia ORPHA:276575
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Abnormal posturing OMIM:614857
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys, Proteinuria OMIM:613845
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Polyphagia ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Polyphagia ORPHA:324575
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Dysphagia, Pallor, Hemoglobinuria ORPHA:447
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Van Maldergem Syndrome 2
Renal hypoplasia, Hypospadias, Micropenis OMIM:615546
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Renal sodium wast... OMIM:612780
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Proteinuria, Pallor, Renal Fanconi syndrome ORPHA:263455
Renal Dysplasia-Limb Defects Syndrome
Renal hypoplasia, Renal dysplasia, Neonatal death OMIM:266910
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Renal agenesis, Pyelonephritis OMIM:181270
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Abnormal renal collecting system morphology, Unilateral renal agenesis, Pelvic kidn... ORPHA:468631
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... ORPHA:93930
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis, Spina bifida occulta OMIM:151100
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Patent ductus arteriosus, Ureteropelvic junction obs... OMIM:270400
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Umbilical hernia, Abnormality of the ureter ORPHA:1770
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence, Dysphagia, Abnormal posturing, Titubation ORPHA:225147
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Pallor ORPHA:90033
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Patent ductus arteriosus OMIM:154400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Nephroblastoma, Congenital posterior urethral valve, H... OMIM:180860
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Abnormality of the urinary system, Unilateral renal agenesis, Vesicoureteral reflux, ... ORPHA:95699
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Premature skin wrinkling, Renal hypoplasia, Unilat... ORPHA:191
Myoclonus, Intractable, Neonatal
Dysphagia, Pallor OMIM:617235
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Stillbirth OMIM:243605
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Cardiogenic Shock
Oliguria ORPHA:97292
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Unilateral renal agenesis, Patent ductus arteriosus ORPHA:261337
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal renal morphology, Horseshoe kidney, Duplicated collecting system, Ectopic... OMIM:600901
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Ulnar-Mammary Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:3138
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Neonatal death, Absence of renal corticomedullary d... OMIM:263200
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus, Polyuria OMIM:617140
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Neonatal death, Patent ductus arteriosus, Cystic renal dysplasia OMIM:269860
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal renal morphology, Horseshoe kidney, Duplicated collecting system, Ectopic... OMIM:227650
Syndromic Diarrhea
Renal hypoplasia, Patent ductus arteriosus, Polycystic kidney dysplasia, Dry skin ORPHA:84064
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis ORPHA:487796
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wasting, Decreased glomerular f... OMIM:613090
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Trisomy 13
Multiple renal cysts, Patent ductus arteriosus, Abnormality of the ureter, Hydronephrosis, Displa... ORPHA:3378
Gand Syndrome
Hyperactivity OMIM:615074
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis ORPHA:2155
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Dysphagia, Unilateral renal agenesis, Recurrent urinary tract infections, Hypospadias, M... ORPHA:268261
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria, Oro... ORPHA:30
Childhood Absence Epilepsy
Urinary incontinence, Pallor ORPHA:64280
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting... OMIM:607364
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Salt craving, Renal magnesi... OMIM:263800
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Polydipsia OMIM:239200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Horseshoe kidney, Renal agenesis, Renal hypoplasia, Pelvic kidney, Hypospadias ORPHA:508498
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Renal agenesis, Recurrent urinary tract infections, Patent ductus arteriosus OMIM:613680
Poland Syndrome
Renal hypoplasia, Duplicated collecting system, Vesicoureteral reflux, Spina bifida occulta, Hypo... ORPHA:2911
Mental Retardation, Autosomal Recessive 61
Hyperactivity OMIM:617773
Prune Belly Syndrome
Hydroureter, Urethral valve, Patent ductus arteriosus, Hydronephrosis, Congenital posterior ureth... OMIM:100100
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Beta-Ketothiolase Deficiency
Ketonuria, Pallor, Oral aversion ORPHA:134
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Death in infancy OMIM:619297
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Renal hypoplasia, Renal cyst, Micropenis, Dry skin OMIM:210710
Beta-Thalassemia Intermedia
Proximal tubulopathy, Pallor, Skin ulcer ORPHA:231222
Fumarase Deficiency
Pallor, Aminoaciduria OMIM:606812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Hemoglobinuria OMIM:300908
Digeorge Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Umbilical hernia, Renal dysplasia, Hydroneph... OMIM:188400
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Plummer-Vinson Syndrome
Dysphagia, Pallor, Geophagia ORPHA:54028
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor, Hemoglobinuria OMIM:194380
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Vesicoureteral r... ORPHA:93929
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury, Dry skin ORPHA:466650
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Renal insuf... ORPHA:223
Evans Syndrome
Petechiae, Pallor ORPHA:1959
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Diamond-Blackfan Anemia 1
Renal hypoplasia, Pallor OMIM:105650
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapy