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Gene: Dnal1 MGI:1921462

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Gene Summary

Name:
dynein, axonemal, light chain 1
Synonyms:
Dnal1,  1700010H15Rik,  Dnalc1,  E330027P08Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
polycystic kidney Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00
increased respiratory quotient Dnal1tm1.1(KOMP)Vlcg HET Early adult 1.42×10-07
preweaning lethality, complete penetrance Dnal1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased eosinophil cell number Dnal1tm1.1(KOMP)Vlcg HET Early adult 4.27×10-05
abnormal lung morphology Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00
edema Dnal1tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal ileum morphology Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
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 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system 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)

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)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Dnal1 mutations

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

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

The table below shows human diseases associated to Dnal1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia, Peribronchovascular interstit... ORPHA:244
Ciliary Dyskinesia, Primary, 16
Bronchiectasis OMIM:614017

The table below shows human diseases predicted to be associated to Dnal1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... OMIM:263200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency OMIM:173900
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis... OMIM:615993
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Immunodeficiency 50
Recurrent respiratory infections, Neutropenia, Lymphopenia, Recurrent urinary tract infections OMIM:300988
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Birt-Hogg-Dube Syndrome
Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Multiple pulmonary cysts, Colon can... OMIM:135150
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Lymphatic Malformation 3
Lymphedema OMIM:613480
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
White Sponge Nevus 2
Edema OMIM:615785
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Meckel Syndrome, Type 8
Cleft palate, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Renotubular dysgen... ORPHA:3033
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Peutz-Jeghers Syndrome
Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, R... ORPHA:2869
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Hepatocellular carcinoma, Hepatosple... OMIM:619902
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... ORPHA:1988
Inflammatory Bowel Disease (Crohn Disease) 30
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... OMIM:619079
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... OMIM:113650
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Lymphatic Malformation 10
Lymphedema OMIM:619369
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Pol... OMIM:208540
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis, Villous atrophy, Microvillus inclusions, Microvillar... OMIM:619445
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal cyst, Hypospadias, Short uv... OMIM:614091
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Recurrent respiratory infections, Pulmonary hypopl... OMIM:184260
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Pulmonary hy... OMIM:231680
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... ORPHA:480536
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia ORPHA:3316
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, ... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections, Lacticaciduria OMIM:619063
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Aganglionic megacolon, Hydroureter, Polycystic kidney dysplasia, Pulmonary... OMIM:236700
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Distal Tetrasomy 15Q
Nephroblastoma, High palate, Abnormality of the kidney, Polycystic kidney dysplasia, Pulmonary hy... ORPHA:314588
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Anemia, Splenomegaly ORPHA:100025
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... OMIM:300048
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis OMIM:617100
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Trisomy 17P
High palate, Polycystic kidney dysplasia, Hypoplasia of penis, Macroglossia, Urethral stenosis, C... ORPHA:261290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intest... OMIM:613091
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Eosinophilic Gastroenteritis
Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Eosinophilia, Dysp... ORPHA:2070
Arima Syndrome
Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic k... OMIM:243910
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Narrow palate, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-c... OMIM:608836
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... ORPHA:103907
Syndromic Diarrhea
Hypoplasia of the thymus, Villous atrophy, Polycystic kidney dysplasia, Increased mean platelet v... ORPHA:84064
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Ul... OMIM:618394
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Rectal atresia, Hydronephrosis OMIM:613390
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Cleft palate, Aminoaciduria, Hypoplasia of the thymus OMIM:214110
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Caroli Syndrome
Leukopenia, Liver abscess, Abnormality of the kidney, Polycystic kidney dysplasia, Esophageal var... ORPHA:480520
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Dysphagia, 3-Methylglutaric acidu... ORPHA:26791
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Meckel Syndrome 14
Cyanosis, Polycystic kidney dysplasia, Pneumothorax, Pulmonary hypoplasia OMIM:619879
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... OMIM:615237
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Multiple re... ORPHA:1166
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic cysts, Gastrointestinal atresia, Abnormality of the kidney, Pol... ORPHA:1505
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Genitopalatocardiac Syndrome
Renal cyst, Cleft palate, Hypospadias OMIM:231060
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enterocolitis, Jejunal atresia, Recurrent respiratory infections, Hypoplasia of the thymus, Lymph... OMIM:243150
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycysti... OMIM:606232
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Caroli Disease
Liver abscess, Polycystic kidney dysplasia, Cholangiocarcinoma, Leukocytosis, Esophageal varix, S... ORPHA:53035
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Splenic cyst, Renal cyst, Splenomegaly, Hiatus hernia OMIM:610199
Secondary Short Bowel Syndrome
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... ORPHA:95427
Serkal Syndrome
Hypoplasia of the bladder, Malrotation of small bowel, Renal agenesis, Pulmonary hypoplasia, Hypo... ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Villous atrophy, Steatorrhea, Renal cyst, Protein-losing enteropathy OMIM:602579
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Peripheral pulmonary artery s... OMIM:610205
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, C... ORPHA:2237
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation, Microglossia, Cleft pa... OMIM:263520
Nephronophthisis 4
Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Poly... OMIM:606966
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Anemia, Stage 5 chronic kidney disease, Renal corticomedull... OMIM:256100
Peroxisome Biogenesis Disorder 5A (Zellweger)
High palate, Polycystic kidney dysplasia, Hepatosplenomegaly, Renal cyst, Hypospadias, Renal cort... OMIM:614866
Say Syndrome
Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... OMIM:265300
Cystic Echinococcosis
Abnormal subpleural morphology, Peritoneal abscess, Splenic cyst, Renal cyst, Multiple pulmonary ... ORPHA:400
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopenia, Pulmonary fib... OMIM:619510
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia OMIM:236500
Mungan Syndrome
Vesicoureteral reflux, Barrett esophagus, Hypoperistalsis, Megaduodenum, Renal hypoplasia, Intest... OMIM:611376
Distal Monosomy 12Q
Vesicoureteral reflux, Esophageal atresia, Pyloric stenosis, Polycystic kidney dysplasia, Ectopic... ORPHA:96149
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Infection associated neutropenia, Nephroca... ORPHA:445038
22Q11.2 Deletion Syndrome
Gastroesophageal reflux, Anorectal anomaly, Vesicoureteral reflux, Hypoplasia of the thymus, Agan... ORPHA:567
Alg1-Cdg
Renal insufficiency, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Abnormality o... ORPHA:79327
Meckel Syndrome, Type 1
Lobulated tongue, Asplenia, Hypoplasia of the bladder, Polycystic kidney dysplasia, Cystic renal ... OMIM:249000
Tuberous Sclerosis Complex
Respiratory tract infection, Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of... ORPHA:805
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Polycystic kidney dysplasia, Renal agenesis, Pulmonary hypoplasia, Ab... OMIM:200980
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Pancreatic Colipase Deficiency
Fat malabsorption, Megaloblastic anemia, Steatorrhea ORPHA:309108
Orofaciodigital Syndrome I
Pancreatic cysts, Lobulated tongue, Ovarian cyst, High palate, Bifid tongue, Tongue nodules, Anky... OMIM:311200
Refractory Celiac Disease
Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Abnormal spleen physiology, Increas... ORPHA:398063
Scedosporiosis
Bronchitis, Pleural empyema, Pleuritis, Abnormal jejunum morphology, Pulmonary fibrosis, Pneumoni... ORPHA:449280
Diaphanospondylodysostosis
Cleft palate, Multiple renal cysts ORPHA:66637
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Multicystic kidney dysplasia, Crossed fused renal ectopia, Esophageal at... ORPHA:2538
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Joubert Syndrome 18
Renal cyst, Cleft palate, Lobulated tongue, Horseshoe kidney OMIM:614815
15q26 overgrowth syndrome
Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycystic kidney dysplasia, Renal... DECIPHER:81
Whim Syndrome
Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophil morphology, L... ORPHA:51636
Matthew-Wood Syndrome
Vesicoureteral reflux, Abnormal spleen morphology, Pulmonary hypoplasia, Duodenal stenosis, Horse... ORPHA:2470
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Villous atrophy, Abnormality of small intestinal vil... ORPHA:2290
Penile Agenesis
Anorectal anomaly, Absent penis, Bilateral lung agenesis, Bilateral renal agenesis, Urethral fist... ORPHA:49
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Pulmonary sequestration, Hypoxemia, Pulm... ORPHA:2847
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal pulmonary interstitial morphol... ORPHA:90291
Congenital Tracheal Stenosis
Cyanosis, Morphological abnormality of the gastrointestinal tract, Anomalous origin of left pulmo... ORPHA:141127
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal... ORPHA:97362
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Ogden Syndrome
High palate, Narrow palate, Pulmonary edema, Enlarged kidney, Polycystic kidney dysplasia, Pulmon... OMIM:300855
Hajdu-Cheney Syndrome
High palate, Polycystic kidney dysplasia, Intestinal malrotation, Renal cyst, Hypospadias OMIM:102500
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Joubert Syndrome 20
Renal cyst OMIM:614970
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Hypoplastic colon, Cystic renal dysplasia, Pulmonary hypoplasia, Ex... OMIM:200995
Meckel Syndrome, Type 6
Hepatic cysts, Pulmonary hypoplasia, Renal cyst, Bilobed right lung, Horseshoe kidney, Aplasia of... OMIM:612284
Scleroderma
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal pulmonary i... ORPHA:801
Coach Syndrome 1
Splenomegaly, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral re... OMIM:216360
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea, Renal cyst, Extramedullary hematopoiesis, Dark urine ORPHA:79303
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia OMIM:615583
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Dextrocardia
Abnormal pulmonary situs morphology, Abnormal lung lobation, Abnormality of the pulmonary artery,... ORPHA:1666
Vacterl/Vater Association
Anorectal anomaly, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Renal agenesis,... ORPHA:887
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Stage 5 chronic kidney disease, Rena... OMIM:174000
Meckel Syndrome, Type 10
Bifid uvula, Renal cyst, Hypospadias, Cleft palate, Micropenis OMIM:614175
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Abnormal lung lobation, Cystic renal dysplasia, Pulmonary hypoplasia, ... OMIM:615415
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Microco... ORPHA:2241
Floating-Harbor Syndrome
Gastroesophageal reflux, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Pol... ORPHA:2044
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria OMIM:611773
Immunodeficiency 96
Increased mean corpuscular volume, Multicystic kidney dysplasia, Recurrent lower respiratory trac... OMIM:619774
Congenital Tufting Enteropathy
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... ORPHA:92050
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Meckel Syndrome, Type 2
Intestinal malrotation, Cleft palate, Renal cyst OMIM:603194
Martinez-Frias Syndrome
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop... OMIM:601346
Cat Eye Syndrome
Vesicoureteral reflux, Rectal fistula, Volvulus, Renal agenesis, Anal atresia, Intestinal malrota... OMIM:115470
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Malabsorption, Gastrointestinal carcinoma, Glossitis, Xerostomia, Hamartomatous polyposis... OMIM:175500
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Fryns Syndrome
Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Ectopi... ORPHA:2059
Roberts Syndrome
High palate, Polycystic kidney dysplasia, Long penis, Cleft palate, Thrombocytopenia ORPHA:3103
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Trigonocephaly 1
Meckel diverticulum, High, narrow palate, Long penis OMIM:190440
Braddock-Carey Syndrome 1
Cleft palate, Thrombocytopenia, Multicystic kidney dysplasia, Anteriorly placed anus OMIM:619980
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Mitchell-Riley Syndrome
Jejunal atresia, Malabsorption, Acholic stools, Intestinal malrotation, Anteriorly placed anus, M... OMIM:615710
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Multiple renal cysts, Cleft palate, High, narr... ORPHA:3378
Axial Osteomalacia
Renal cyst OMIM:109130
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Abnormal intestine morphology, Multiple renal cys... ORPHA:1318
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Kleefstra Syndrome
Gastroesophageal reflux, Vesicoureteral reflux, Pyloric stenosis, Hypoplasia of penis, Macrogloss... ORPHA:261494
Meckel Syndrome, Type 5
Renal cyst, Cleft palate OMIM:611561
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Ectopic anus, Renal hypoplas... ORPHA:2473
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megaduodenum, Aganglionic megacolon, Microcolon, Megacy... OMIM:155310
Primary Intestinal Lymphangiectasia
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... ORPHA:90362
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Esophageal stricture, Pneumothorax, Multicystic kidney dysplasia, Urinary retention, Recu... ORPHA:79404
Femoral-Facial Syndrome
Gastroesophageal reflux, Polycystic kidney dysplasia, Renal agenesis, Cleft palate, Abnormal rena... OMIM:134780
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Pulmonary capillary hemangiomatosis, Polycythemia, Epidid... OMIM:193300
Immunodeficiency 31C
Recurrent respiratory infections, Bronchiectasis, Villous atrophy, Intussusception, Lymphopenia, ... OMIM:614162
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Renal cys... ORPHA:284
Cornelia De Lange Syndrome 1
Gastroesophageal reflux, Vesicoureteral reflux, High palate, Pyloric stenosis, Renal cyst, Reduce... OMIM:122470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Glossoptosis ORPHA:2031
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Pleural ... ORPHA:3015
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Nephrogenic rest, Horseshoe kidney... OMIM:608022
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Abnormal lung lobation, Anal atresia, Renal cyst, Anteriorly placed... OMIM:146510
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Polyuria, Renal cyst, Micropenis OMIM:615994
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery stenosis, Cleft palate,... OMIM:265380
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Pleura... ORPHA:464329
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia, Intestinal pseudo-obstruction ORPHA:73246
Ulbright-Hodes Syndrome
Pneumothorax, High palate, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal hypoplasia, A... ORPHA:3404
Fryns Syndrome
Esophageal atresia, Aganglionic megacolon, Polysplenia, Renal agenesis, Anal atresia, Pulmonary h... OMIM:229850
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Anal atresia ORPHA:3301
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Narrow palate, Pulmonary lymphangiectasia, Pleural effusion, Ectopic kidne... OMIM:235510
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Micropenis OMIM:210710
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Multicystic kidney dysplasia, Leukemia, Renal cyst, Hypospadias, Cleft palate, Du... OMIM:257300
Mosaic Trisomy 9
Asplenia, High palate, Renal dysplasia, Abnormal lung lobation, Hypoplasia of penis, Intestinal m... ORPHA:99776
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Anemia, Lymphopenia, Renal cyst, Dysphagia, Renal hypoplasia, Neutropenia,... OMIM:618460
Lymphangioleiomyomatosis
Pneumothorax, Renal angiomyolipoma, Hematuria, Emphysema, Renal neoplasm, Abnormal urinary color,... ORPHA:538
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Neutropenia, Meckel diverticulum, Lymphopenia OMIM:616395
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Pyloric ... ORPHA:93111
Nabais Sa-De Vries Syndrome, Type 2
Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate OMIM:618829
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hemolytic anemia, Hypermagnesiuria, Hyperpho... ORPHA:18
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Thrombocytopenia, Anemia OMIM:608104
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Villous atrophy, Nephrotic syndrome, Steatorrhea, Renal cyst, Thrombocytosi... OMIM:212065
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Abnormality of the ... ORPHA:811
Zellweger Syndrome
Multicystic kidney dysplasia, High palate, Malabsorption, Pyloric stenosis, Hypospadias, Hydronep... ORPHA:912
Mody
Glycosuria, Abnormality of the kidney, Renal cyst, Nephropathy, Elevated hemoglobin A1c, Hepatoce... ORPHA:552
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Anal atresia, Cleft palate, Hydronephrosis ORPHA:261344
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Pulmonary hypoplasia, Renal cyst, Pulmonary artery atre... ORPHA:1692
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, High palate, Pulmonary lymphangiectasia, Cleft palate, Protein-losing enteropathy, ... OMIM:235255
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
High palate, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal age... OMIM:220500
Juvenile Polyposis Of Infancy
Anemia, High, narrow palate, Intussusception, Hematochezia, Intestinal bleeding, Gastrointestinal... ORPHA:79076
Atelosteogenesis Type I
Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Malrotation of colon ORPHA:1190
Meckel Syndrome, Type 3
Cleft palate, Multicystic kidney dysplasia OMIM:607361
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Congenital mega... ORPHA:369837
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Multiple small medullary renal cysts, Parathormone-independent increased renal tubu... OMIM:600740
Oculoskeletodental Syndrome
Renal agenesis, Macroglossia, Mucopolysacchariduria, Protein-losing enteropathy, Splenomegaly, Hy... OMIM:618440
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Protein-losing enterop... ORPHA:1655
Tarp Syndrome
Cyanosis, Tongue nodules, Abnormal duodenum morphology, Pulmonary hypoplasia, Horseshoe kidney, E... ORPHA:2886
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Renal insufficiency, Renal cyst, Partial anomalous pulmonary venous return OMIM:617478
Marden-Walker Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormality of the kidne... ORPHA:2461
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Bifid tongue, Anal atresia, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia,... OMIM:616300
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, High palate, Multicystic kidney dysplasia, Recurrent urinary tract inf... OMIM:614527
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Pulmonary hypoplasia, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, ... OMIM:208500
Meckel Syndrome, Type 4
Renal cyst, Cleft palate OMIM:611134
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Splenomegaly, Acholic stools, Steatorrhea OMIM:607765
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Peptic ulcer, Renal hamartoma, Renal cyst, Dysphagia, Nephrocalcinosis, Renal ins... ORPHA:99880
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma, Splenomegaly OMIM:601847
Zygomycosis
Acute infectious pneumonia, Brain abscess, Enterocolitis, Pneumothorax, Atelectasis, Colon perfor... ORPHA:73263
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Pleural effusion, Polyuria, Recurrent upper respiratory tract infections, Protei... OMIM:618183
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Macroglossia, Renal cyst, Trans... OMIM:617107
Parathyroid Carcinoma
Nephroblastoma, Peptic ulcer, Renal hamartoma, Renal cyst, Dysphagia, Nephrocalcinosis, Renal ins... ORPHA:143
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Stomach cancer, Juvenile colonic polyposis, Brain abscess, Anemia, ... ORPHA:2929
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, High palate ORPHA:2115
Trisomy 20P
Ectopic anus, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal c... ORPHA:261318
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Multicystic kidney dysplasia, Abnormal lung lobation, Acute lymph... ORPHA:1052
Joubert Syndrome 14
Renal cyst, Cleft palate OMIM:614424
Pearson Syndrome
Anemia, Glycosuria, Median cleft lip and palate, Lacticaciduria, Steatorrhea, Renal cyst, Reticul... ORPHA:699
Focal Dermal Hypoplasia
Gastroesophageal reflux, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Renal hyp... ORPHA:2092
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Genitopatellar Syndrome
Gastroesophageal reflux, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis ORPHA:85201
Smith-Lemli-Opitz Syndrome
Bifid uvula, Pulmonary hypoplasia, Cleft palate, Splenomegaly, Microglossia, Hydronephrosis, Gast... OMIM:270400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Anemia, High palate, Renal dysplasia, Stage 5 chronic kidney disease, Acute kid... OMIM:266920
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Cystic renal dysplasia, Pulmonary hypoplasia, Median cleft lip and palate, Inte... OMIM:269860
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Hepatosplenomegal... OMIM:267010
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Pyloric stenosis, Unilateral renal agenesis, Renal cyst, Hypospadias, Pe... ORPHA:464306
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys, Pulmonary hypoplasia OMIM:615636
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, High palate, Renal agenesis, Hydronephrosis ORPHA:1297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Duode... ORPHA:464311
Roberts-Sc Phocomelia Syndrome
High palate, Polycystic kidney dysplasia, Long penis, Hypospadias, Horseshoe kidney, Accessory sp... OMIM:268300
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Cleft palate, Pyloric stenosis, Multicystic kidney dysplasia ORPHA:261197
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea, Acanthocytosis ORPHA:71
Autosomal Recessive Cutis Laxa Type 1
Vesicoureteral reflux, Pneumothorax, Recurrent urinary tract infections, Pyloric stenosis, Pyelon... ORPHA:90349
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
2Q37 Microdeletion Syndrome
Nephroblastoma, Pyloric stenosis, Multicystic kidney dysplasia ORPHA:1001
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, High palate, Dysphagia, Recurrent respiratory infections, Hydroneph... ORPHA:261349
Cerebrocostomandibular Syndrome
Gastroesophageal reflux, High palate, Cleft soft palate, Renal cyst, Anteriorly placed anus, Ecto... OMIM:117650
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst, High palate OMIM:608091
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Multicystic kidney dysplasia ORPHA:2075
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Hydronephrosis OMIM:615989
Schinzel-Giedion Syndrome
Nephroblastoma, Myeloid leukemia, High palate, Aganglionic megacolon, Macroglossia, Pulmonary hyp... ORPHA:798
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Pulmonary hypoplasia, Anteriorly placed anus, Meckel d... ORPHA:1708
Jacobsen Syndrome
Multicystic kidney dysplasia, Abnormality of the anus, Ectopic anus, Recurrent respiratory infect... ORPHA:2308
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele ORPHA:261265
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatosplenomegaly ORPHA:79302
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema, Renal cyst, Polycystic ovaries, Cleft palate ORPHA:137675
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Microphallus, Renal cyst, Renal hypoplasia, Cleft palate, Hydronephrosis OMIM:618454
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Neoplasm of the liver, Nephropathy, Renal insufficiency, Splenomegaly ORPHA:1454
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... ORPHA:500095
Joubert Syndrome 1
Renal cyst, Nephropathy, Protruding tongue, Macroglossia OMIM:213300
Fanconi Anemia
Abnormality of the urinary system, Cleft palate, Thrombocytopenia, Aplasia/Hypoplasia of the uvul... ORPHA:84
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Absence of renal corticomedullary differentiation, Re... OMIM:613254
Tuberous Sclerosis 1
Renal cyst, Renal cell carcinoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma OMIM:191100
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Oculocerebrorenal Syndrome Of Lowe
Gastroesophageal reflux, Glomerulopathy, Aminoaciduria, Narrow palate, Anemia, Malabsorption, Abn... ORPHA:534
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Vesicoureteral reflux, High palate, Renal cyst, Hypospadias, Furrowed to... OMIM:616975
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Multicystic kidney dysplasia, Bifid tongue, Renal hypoplasia/aplasia, Ag... ORPHA:818
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Pulm... ORPHA:991
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Osteopathia Striata With Cranial Sclerosis
Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Bifid uvula, Anal atresia, In... OMIM:300373
D-Bifunctional Protein Deficiency
Renal cyst, High palate, Splenomegaly OMIM:261515
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology,... ORPHA:512
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid tongue, Ectopic anus, Esophageal atresia, Urethrovaginal fistula, Pulmonary hypoplasia, Ana... ORPHA:93271
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Narrow palate, Exaggerated median tongue furrow, Enlarged kidney, Polysplenia, Ab... OMIM:312870
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
1P36 Deletion Syndrome
Gastroesophageal reflux, Abnormality of the anus, Abnormality of the kidney, Pyloric stenosis, Hy... ORPHA:1606
Fraser Syndrome
Urethral atresia, Multicystic kidney dysplasia, High palate, Bifid tongue, Ectopic anus, Abnormal... ORPHA:2052
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Renal hypoplasia/aplasia, Pulmonary... OMIM:219000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Pneumothorax, Nephrotic syndrome, Abnormal duodenum morphology, Intestinal malrotati... OMIM:601776
Townes-Brocks Syndrome 1
Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Ren... OMIM:107480
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Bifid tongue, Ectopic anus, Ankyloglossia, Hypoplasia of penis, Rec... ORPHA:1507
Cranioectodermal Dysplasia 2
High palate, Polysplenia, Renal cyst, Recurrent pneumonia, Cleft palate, Renal insufficiency, Spl... OMIM:613610
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Lobulated tongue, Multicystic kidney dysplasia, High palate, Tongue nodules, Pr... ORPHA:2750
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Splenomegaly, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Hypoplasia ... ORPHA:373
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Large intestinal poly... ORPHA:116
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... OMIM:118450
Hajdu-Cheney Syndrome
Intestinal malrotation, Hypospadias, Multiple renal cysts, Cleft palate, Recurrent respiratory in... ORPHA:955
Williams Syndrome
Peptic ulcer, Colonic diverticula, Abnormality of the bladder, Peripheral pulmonary artery stenos... ORPHA:904
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Asplenia, Aplasia/Hypoplasia of the tongue, Multicystic kidne... ORPHA:564
Trisomy 10P
Gastroesophageal reflux, High palate, Abnormality of the kidney, Multiple renal cysts, Dysphagia,... ORPHA:171929
Genitopatellar Syndrome
Multicystic kidney dysplasia, Malrotation of small bowel, Anal atresia, Pulmonary hypoplasia, Ant... OMIM:606170
Distal Monosomy 15Q
Multicystic kidney dysplasia, Bifid tongue, Pulmonary hypoplasia, Hypospadias, Abnormal localizat... ORPHA:1596
Cerebrocostomandibular Syndrome
Short hard palate, Cleft palate, Multicystic kidney dysplasia, Glossoptosis ORPHA:1393
Von Hippel-Lindau Disease
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Polycythemia, Epididymal... ORPHA:892
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia, Peribronchovascular interstit... ORPHA:244
Liver Disease, Severe Congenital
Aminoaciduria, Anemia, Leukopenia, Pulmonary edema, Recurrent urinary tract infections, Lymphocyt... OMIM:619991
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Gastroesophageal reflux, Hypospadias, Anteriorly placed anus ORPHA:495875
Townes-Brocks Syndrome
Vesicoureteral reflux, Urethral valve, Abnormality of the kidney, Rectoperineal fistula, Hypoplas... ORPHA:857
Peters Plus Syndrome
Intestinal fistula, Abnormal pulmonary vein morphology, Multicystic kidney dysplasia, Renal dupli... ORPHA:709
Tetrasomy 9P
High palate, Renal dysplasia, Recurrent urinary tract infections, Bifid uvula, Pulmonary hypoplas... ORPHA:3310
Spondylocarpotarsal Synostosis Syndrome
Renal cyst, Cleft palate OMIM:272460
Proteus Syndrome
Enlarged polycystic ovaries, Abnormal lung lobation, Long penis, Renal cyst, Bronchogenic cyst, T... ORPHA:744
C Syndrome
Multicystic kidney dysplasia, High palate, Abnormality of the anus, Renal hypoplasia/aplasia, Hor... ORPHA:1308
Robinow Syndrome
Multicystic kidney dysplasia, Bifid tongue, Webbed penis, Ankyloglossia, Micropenis, Hydronephrosis ORPHA:97360
Cornelia De Lange Syndrome
Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Volvul... ORPHA:199
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Branchiooculofacial Syndrome
Gastroesophageal reflux, Pyloric stenosis, Renal agenesis, Renal cyst, Hypospadias, Cleft palate,... OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Aganglionic megacolon, Renal agenesis, Unilateral ... OMIM:308205
Mowat-Wilson Syndrome
Asplenia, Bifid uvula, Pulmonary artery sling, Dysphagia, Cleft palate, Submucous cleft of soft a... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Renal duplication, Vesicoureteral reflux, Multicystic kidney dysplasia, Hyd... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Bifid uvula, Abnormality of the pulmonary artery, Pulmonary artery sling, Duplication o... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:615287
Pallister-Killian Syndrome
Renal dysplasia, Bifid uvula, Anal atresia, Macroglossia, Pulmonary hypoplasia, Intestinal malrot... OMIM:601803
Craniofacial Microsomia
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal agenesis, Pulmonary hypoplasia, Ectopi... OMIM:164210
Pmm2-Cdg
Aspiration pneumonia, High palate, Nephrotic syndrome, Impaired neutrophil chemotaxis, Abnormal r... ORPHA:79318
Ciliary Dyskinesia, Primary, 16
Bronchiectasis OMIM:614017

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dnal1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnal1.

No publications found that use IMPC mice or data for Dnal1.

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MGI Allele Allele Type Produced
Dnal1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnal1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Dnal1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnal1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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