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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
increased respiratory quotient Dnal1tm1.1(KOMP)Vlcg HET Early adult 1.42×10-07
polycystic kidney Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased eosinophil cell number Dnal1tm1.1(KOMP)Vlcg HET Early adult 4.29×10-05
abnormal ileum morphology Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00
edema Dnal1tm1.1(KOMP)Vlcg HOM E15.5 0.00
preweaning lethality, complete penetrance Dnal1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal lung morphology Dnal1tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Gross Pathology and Tissue Collection

Images

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

2 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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 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
Atelectasis, Pulmonary situs ambiguus, Asplenia, Intestinal malrotation, Respiratory tract infect... 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
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Esophagea... OMIM:263200
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts OMIM:173900
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia, Lymphopenia OMIM:300988
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Pulmonary hypoplasia, Intestinal malrotation, Multicystic kidney dysplasia ORPHA:3032
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Renal cyst, Renal agenesis, Renal dysplasia, Sta... OMIM:615993
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst, Spontaneous pneumothorax, Large intestinal poly... OMIM:135150
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Lymphatic Malformation 3
Lymphedema OMIM:613480
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
White Sponge Nevus 2
Edema OMIM:615785
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Hyperechogenic kidneys OMIM:613885
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent pneumonia, Protein-losing enteropathy, Neutropenia OMIM:613502
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Pulmonary hypoplasia, Multiple renal cysts, Renotubular dysgen... ORPHA:3033
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia OMIM:211890
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Neut... OMIM:617056
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal cyst, Hyperechogenic... OMIM:619902
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Cleft palate, Abnormal localiz... ORPHA:1988
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Polycystic kidney dysplasia, Pulmonary hypoplasia OMIM:263210
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Asplenia, Intestinal malrotation,... OMIM:208540
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Respiratory tract infection, Bronchiectasis, Microvi... OMIM:619445
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Recurrent respiratory infections, Nephronophthisis, Pulmonary hypopl... OMIM:184260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short uvula, Polycystic kidney dysplasia, High palate, Renal cyst, Renal hypoplasia,... OMIM:614091
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Splenomegaly, Villous atrophy OMIM:608776
Prune Belly Syndrome
Hydroureter, Intestinal atresia, Renal insufficiency, Abnormality of the bladder, Recurrent urina... ORPHA:2970
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate ORPHA:3316
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Splenomegaly, Oliguria, Stage 5 chronic kidney dise... ORPHA:731
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, High palate, Hydronephrosis, Pulmonary hy... ORPHA:314588
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C... ORPHA:480536
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, Polycystic kidne... OMIM:236700
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, High palate, Urethral valve, Hydronephrosis, Cl... ORPHA:261290
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal t... ORPHA:1834
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft palate,... OMIM:613091
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Anemia, Tubulointerstitial fibrosis, Polycystic kidney dys... OMIM:243910
Syndromic Diarrhea
Villous atrophy, Gastritis, Polycystic kidney dysplasia, Hypoplasia of the thymus, Renal hypoplas... ORPHA:84064
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis OMIM:617100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycysti... OMIM:608836
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Recurrent sinopulmonary infections, Sple... OMIM:618394
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Multiple renal cysts, Gastroesophageal reflux ORPHA:2924
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Caroli Syndrome
Hematemesis, Abnormality of the kidney, Liver abscess, Melena, Polycystic kidney dysplasia, Esoph... ORPHA:480520
Meckel Syndrome 14
Pneumothorax, Polycystic kidney dysplasia, Cyanosis, Pulmonary hypoplasia OMIM:619879
Fanconi Anemia, Complementation Group O
Anal atresia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Rectal atresia OMIM:613390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Recurrent lower respiratory tract infections, Pancytopenia, Abnormally low T cell re... OMIM:618986
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Anemia, Splenomegaly ORPHA:100025
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Myoglobinuria, Pol... ORPHA:228308
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Cleft palate, Hypoplasia of the thymus, Aminoaciduria OMIM:214110
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Anal atresia, Tracheoesophageal ... ORPHA:2973
Attenuated Familial Adenomatous Polyposis
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... ORPHA:220460
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Cleft palate, Multiple renal cysts, Abnormality ... ORPHA:1166
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Caroli Disease
Liver abscess, Polycystic kidney dysplasia, Esophageal varix, Leukocytosis, Splenomegaly, Cholang... ORPHA:53035
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Leuko... ORPHA:2070
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Renal cyst OMIM:231060
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Gastroesophageal reflux, Polycystic kidney dysplasia, Vesicoureteral r... OMIM:606232
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenic cyst, Polycystic kidney dysplasia, Renal cyst, Splenomegaly, Pancreatic cysts, Hiatus hernia OMIM:610199
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Peripheral pulmonar... OMIM:610205
Serkal Syndrome
Hypospadias, Renal agenesis, Pulmonary hypoplasia, Malrotation of small bowel, Hypoplasia of the ... ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Proximal tubulopathy, Renal cyst, Villous atrophy OMIM:602579
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Intestinal malrotation, Cleft palate, Pulmonary hypoplasia, Microglo... OMIM:263520
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Cl... ORPHA:2237
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... OMIM:606966
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Renal cortical microcysts, Cle... OMIM:614866
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu... OMIM:256100
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Cystic Echinococcosis
Splenic cyst, Abnormal subpleural morphology, Peritoneal abscess, Renal cyst, Eosinophilia, Ovari... ORPHA:400
Say Syndrome
Cystic renal dysplasia, Cleft palate, Proximal renal tubular acidosis OMIM:181180
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Distal Deletion 12Q
High, narrow palate, Ectopic kidney, Esophageal atresia, Polycystic kidney dysplasia, Vesicourete... ORPHA:96149
3-Methylglutaconic Aciduria Type 7
Pneumothorax, 3-Methylglutaconic aciduria, Infection associated neutropenia, Renal cyst, Nephroca... ORPHA:445038
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue, Micropenis OMIM:616546
Scedosporiosis
Abnormal jejunum morphology, Pleuritis, Abnormal renal morphology, Bronchitis, Pleural empyema, P... ORPHA:449280
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Enterocolitis, Volvulus, Abnorm... ORPHA:95427
Alg1-Cdg
Abnormality of the kidney, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... ORPHA:79327
Mungan Syndrome
Intestinal pseudo-obstruction, Vesicoureteral reflux, Barrett esophagus, Renal hypoplasia, Hypope... OMIM:611376
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Respira... ORPHA:805
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Gastrointestinal hemorrhage, Aganglionic megacolon, Atelectasis, Hypospad... ORPHA:567
Acrorenal-Mandibular Syndrome
Narrow palate, Polycystic kidney dysplasia, Aplasia of the bladder, High palate, Abnormality of t... OMIM:200980
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Renal hypoplasia/aplasia, Esophageal atresia, Rectovaginal fistula, Gastr... ORPHA:2538
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, High palate, Ankyloglossia, Cleft palate, Ovarian cyst, Proteinuria,... OMIM:311200
Joubert Syndrome 18
Cleft palate, Lobulated tongue, Horseshoe kidney, Renal cyst OMIM:614815
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Anal atresia, Abnormality of the ureter, Renal age... OMIM:249000
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Whim Syndrome
Atelectasis, Parotitis, Lymphopenia, Abnormal neutrophil morphology, Bronchiectasis, Recurrent pn... ORPHA:51636
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Diaphanospondylodysostosis
Cleft palate, Multiple renal cysts ORPHA:66637
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:236500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, High palate, Renal... DECIPHER:81
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Pulmonary sequestration, Intesti... ORPHA:2847
Matthew-Wood Syndrome
Vesicoureteral reflux, Abnormal spleen morphology, Renal hypoplasia, Abnormal lung morphology, Du... ORPHA:2470
Penile Agenesis
Rectal fistula, Hydroureter, Bilateral lung agenesis, Anorectal anomaly, Abnormality of the bladd... ORPHA:49
Joubert Syndrome 20
Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Ogden Syndrome
Narrow palate, Pulmonary edema, Enlarged kidney, Iron deficiency anemia, Polycystic kidney dyspla... OMIM:300855
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormality of the kidney, Anomalous origin of left pulmonary artery from... ORPHA:141127
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... OMIM:155310
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiology, Villous... ORPHA:2290
Renal Hypoplasia, Bilateral
Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re... ORPHA:97362
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Intestinal malrotation OMIM:102500
Systemic Sclerosis
Abnormality of the kidney, Acute kidney injury, Abnormal pulmonary interstitial morphology, Abnor... ORPHA:90291
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Extrapulmonary lobar sequestration, Hypoplasia of the sm... OMIM:200995
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Cleft palate, Pulmonary hypoplasia, Hepatic cysts, Horseshoe ... OMIM:612284
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Esophageal varix, Renal cyst, Splenomegaly, Stage 5 ... OMIM:216360
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Dextrocardia
Abnormal lung lobation, Meckel diverticulum, Abnormal renal morphology, Abnormality of the ureter... ORPHA:1666
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Renal cyst, Dark urine, Extramedullary hematopoiesis, Fat malabsorption ORPHA:79303
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico... OMIM:301111
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Anorectal anomaly, Tracheoesophageal fistula, A... ORPHA:887
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Enlarged kidney, Asplenia, Pulmonary hypoplasia, Hepatic cysts, Cystic re... OMIM:615415
Floating-Harbor Syndrome
Hypospadias, Gastroesophageal reflux, Polycystic kidney dysplasia, Renal cyst, Celiac disease, Re... ORPHA:2044
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Hypop... ORPHA:2241
Meckel Syndrome, Type 2
Intestinal malrotation, Cleft palate, Renal cyst OMIM:603194
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Total anomalous pulmon... OMIM:115470
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Martinez-Frias Syndrome
Hypospadias, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal at... OMIM:601346
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Ectopic anus, Vesicoureteral reflux,... ORPHA:2059
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, High palate, Cleft palate, Thrombocytopenia ORPHA:3103
Trigonocephaly 1
Meckel diverticulum, High, narrow palate, Long penis OMIM:190440
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Cleft palate, Bifid uvula, Micropenis OMIM:614175
Braddock-Carey Syndrome 1
Thrombocytopenia, Cleft palate, Multicystic kidney dysplasia, Anteriorly placed anus OMIM:619980
Fliedner-Zweier Syndrome
Unilateral renal agenesis, High palate, Tracheoesophageal fistula, Anal atresia, Hydronephrosis, ... OMIM:620511
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Trisomy 13
Abnormal lung lobation, High, narrow palate, Abnormality of the ureter, Hydronephrosis, Displacem... ORPHA:3378
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate, Renal cyst OMIM:615583
Kleefstra Syndrome
Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Pul... ORPHA:261494
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
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
Multicystic kidney dysplasia, Abnormal intestine morphology, Cleft palate, Multiple renal cysts, ... ORPHA:1318
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Renal tubular epithelial necrosis, Hydroureter, Anem... ORPHA:79404
Immunodeficiency 31C
Autoimmune hemolytic anemia, Protein-losing enteropathy, Impaired lymphocyte transformation with ... OMIM:614162
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Aganglionic megacolon, Glandular hypospadias, Ectopic anus, Urogenital ... ORPHA:2473
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Functional abn... ORPHA:90362
Meckel Syndrome, Type 5
Cleft palate, Renal cyst OMIM:611561
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointes... OMIM:175500
Radio-Renal Syndrome
High, narrow palate, Renal hypoplasia/aplasia, Chylothorax, Pleural effusion, Renal agenesis, Ren... ORPHA:3015
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Gastroesophageal reflux, Polycystic kidney dysplasia... OMIM:134780
Alveolar Echinococcosis
Liver abscess, Anemia, Abnormal bladder morphology, Abnormal spleen morphology, Renal cyst, Eosin... ORPHA:284
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Polycythemia, Mult... OMIM:193300
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Rec... ORPHA:538
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypoplasia, Cleft palate, Horse... OMIM:608022
Cornelia De Lange Syndrome 1
Pneumonia, High, narrow palate, Ectopic kidney, Hypospadias, Gastroesophageal reflux, Abnormal re... OMIM:122470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, High palate, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Pleural effusion, Abnormal spleen morphology, Abnormal lung morphology, ... ORPHA:464329
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Fryns Syndrome
Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Chylothorax, Meckel... OMIM:229850
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Ulbright-Hodes Syndrome
Pneumothorax, Polycystic kidney dysplasia, High palate, Renal hypoplasia, Pulmonary hypoplasia, A... ORPHA:3404
Mody
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Elevated hemoglobin A1... ORPHA:552
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia, Intestinal pseudo-obstruction ORPHA:73246
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Ectopic ... OMIM:235510
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation... OMIM:265380
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Micropenis OMIM:210710
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Cleft palate, Nephroblastoma, Micropenis, ... OMIM:257300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis... OMIM:618460
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Nabais Sa-De Vries Syndrome, Type 2
Bilateral cleft palate, High palate, Multicystic kidney dysplasia, Gastroesophageal reflux OMIM:618829
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Anal atresia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs ORPHA:3301
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mosaic Trisomy 9
Abnormal lung lobation, Hypoplasia of penis, High palate, Asplenia, Intestinal malrotation, Hydro... ORPHA:99776
Mitchell-Riley Syndrome
Meckel diverticulum, Intestinal malrotation, Acholic stools, Jejunal atresia, Anteriorly placed a... OMIM:615710
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Protein-losing enteropathy, Anemia OMIM:608104
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis, Neutropenia, Lymphopenia OMIM:616395
Pallister-Hall Syndrome
Abnormal lung lobation, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Ana... OMIM:146510
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria, Thrombocytosis, V... OMIM:212065
Atelosteogenesis Type I
Cleft palate, Pulmonary hypoplasia, Multiple renal cysts, Malrotation of colon ORPHA:1190
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Multiple bladder diverticula, Emphysema, Recurrent urinary tract infections, Vesico... ORPHA:90349
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate, Hydronephrosis, Splenomegaly, Pulmonary ly... OMIM:235255
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Cleft palate, Pulmonary hypoplasia, P... ORPHA:1692
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
High palate, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cleft palate, Cys... OMIM:220500
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly, ... OMIM:618440
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n... ORPHA:79076
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormal renal morphology, High palate, Hydronephrosis, Hepatosplenom... ORPHA:1655
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, High, narrow palate, Congenital megaureter, Gastroesophageal reflux, Hype... ORPHA:369837
Meckel Syndrome, Type 3
Cleft palate, Multicystic kidney dysplasia OMIM:607361
Trisomy 1Q
Congenital megaureter, Anal atresia, Hydronephrosis, Cleft palate, Multicystic kidney dysplasia ORPHA:261344
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Renal insufficiency, Renal cyst, Partial anomalous pulmonary venous return OMIM:617478
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Zygomycosis
Pneumothorax, Hematemesis, Gastrointestinal hemorrhage, Atelectasis, Gastritis, Melena, Acute inf... ORPHA:73263
Tarp Syndrome
Cyanosis, Glossoptosis, Tongue nodules, Hydronephrosis, Pulmonary hypoplasia, Abnormal duodenum m... ORPHA:2886
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, High palate, Renal cyst, Renal hyp... OMIM:614527
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Anal atresia, Renal hypoplasia, Cleft palate, Lobulated tongue, Pulmonary hypoplasia,... OMIM:616300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Pulmonary hypoplasia, Proteinuria, Chronic kidney diseas... OMIM:208500
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Protein-losing enteropathy, Pleural effusion, Hematochezia, Recurrent upper respiratory... OMIM:618183
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Protein-losing enteropathy, Anemia, Stomach cancer, Hamartomatous st... ORPHA:2929
Meckel Syndrome, Type 4
Cleft palate, Renal cyst OMIM:611134
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Dys... ORPHA:99880
Zellweger Syndrome
Hypospadias, High palate, Pyloric stenosis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Transient neutropenia, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblasto... OMIM:617107
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Intestinal polyposis, Stomach cancer, Acute lymphoblastic leukemia, Cleft... ORPHA:1052
Parathyroid Carcinoma
Peptic ulcer, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Dys... ORPHA:143
Harrod Syndrome
High palate, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Gastroesophageal reflux, Hydr... ORPHA:2092
Trisomy 20P
Abnormality of the kidney, Hypospadias, Ectopic anus, Abnormality of the ureter, Hydronephrosis, ... ORPHA:261318
Genitopatellar Syndrome
Pulmonary hypoplasia, Hydronephrosis, Multicystic kidney dysplasia, Gastroesophageal reflux ORPHA:85201
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney, Renal cyst, Pylor... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Pelvic kidney, Renal cyst, Hydro... ORPHA:464311
Pearson Syndrome
Steatorrhea, Neutropenia, Anemia, Pancytopenia, Renal cyst, Reticulocytosis, Median cleft palate,... ORPHA:699
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Joubert Syndrome 14
Cleft palate, Renal cyst OMIM:614424
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Multicystic kidney dysplasia, Gastroesophageal reflux ORPHA:261197
Short-Rib Thoracic Dysplasia 12
Atelectasis, Median cleft palate, Intestinal malrotation, Renal hypoplasia, Pulmonary hypoplasia,... OMIM:269860
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Anemia, Recurrent respiratory infect... OMIM:266920
Smith-Lemli-Opitz Syndrome
Intestinal malrotation, Bifid uvula, Splenomegaly, Aganglionic megacolon, Hypospadias, Cleft pala... OMIM:270400
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidn... OMIM:267010
Branchio-Oculo-Facial Syndrome
Renal agenesis, High palate, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
2Q37 Microdeletion Syndrome
Nephroblastoma, Pyloric stenosis, Multicystic kidney dysplasia ORPHA:1001
Joubert Syndrome 2
High palate, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
2P15P16.1 Microdeletion Syndrome
High palate, Hydronephrosis, Dysphagia, Recurrent respiratory infections, Multicystic kidney dysp... ORPHA:261349
Roberts-Sc Phocomelia Syndrome
Hypospadias, Accessory spleen, Long penis, Polycystic kidney dysplasia, High palate, Cleft palate... OMIM:268300
Joubert Syndrome 21
Renal cyst, Pulmonary hypoplasia, Dysphagia, Hyperechogenic kidneys, Splenomegaly OMIM:615636
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Meckel diverticulum, Abnormal lung morpho... ORPHA:1708
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypospadias, Anteriorly placed anus, High palate, Nephrolithiasis, Renal c... ORPHA:798
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Genitopalatocardiac Syndrome
Cleft palate, Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Cerebrocostomandibular Syndrome
Anal stenosis, Ectopic kidney, Cleft soft palate, Gastroesophageal reflux, Short hard palate, Glo... OMIM:117650
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Cleft palate OMIM:618454
Histiocytoid Cardiomyopathy
Pulmonary edema, Renal cyst, Cleft palate, Polycystic ovaries, Cyanosis ORPHA:137675
Jacobsen Syndrome
Ectopic anus, Intestinal malrotation, Pyloric stenosis, Hydronephrosis, Thrombocytopenia, Abnorma... ORPHA:2308
Joubert Syndrome 1
Macroglossia, Nephropathy, Renal cyst, Protruding tongue OMIM:213300
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Neoplasm of the liver, Nephropathy ORPHA:1454
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis, Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Tuberous Sclerosis 2
Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Pulmonary lymphangiomyomatosis, Absence o... OMIM:613254
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Renal hypoplasia/aplasia, Aganglionic megacolon, Hypospadias, Gastroesoph... ORPHA:818
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Pagod Syndrome
Renal hypoplasia/aplasia, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality of the s... ORPHA:991
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, High palate, Furrowed tongue, Renal ... OMIM:616975
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Narrow palate, Glomerulopathy, Hematuria, Atelectasis, Anemia, ... ORPHA:534
Metachromatic Leukodystrophy
Urinary incontinence, Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach... ORPHA:512
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Gastroesophageal reflux, High palate, Anal atresia, Intestinal malrotation, Bifid ... OMIM:300373
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
D-Bifunctional Protein Deficiency
High palate, Splenomegaly, Renal cyst OMIM:261515
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Hypoplasia of penis, Ectopic anus, Renal cyst, Anal atresia, Renal hypoplasia... ORPHA:93271
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Narrow palate, Enlarged kidney, Hypospadias, Meckel diverticulum, Exagger... OMIM:312870
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Abnormal in... ORPHA:1606
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, High palate, Nephrotic syndrome, Intestinal malrotation, Hydronephrosis, Cleft pala... OMIM:601776
Cranioectodermal Dysplasia 2
High palate, Renal cyst, Recurrent pneumonia, Cleft palate, Splenomegaly, Renal insufficiency, Po... OMIM:613610
Fraser Syndrome 1
Renal hypoplasia/aplasia, Hypospadias, Renal hypoplasia, Cleft palate, Pulmonary hypoplasia, Abno... OMIM:219000
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Ectopic anus, Ankyloglossia, Hydronephrosis, Recurrent respiratory infection... ORPHA:1507
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Asplenia, Intestinal malrotation, Respiratory tract infect... ORPHA:244
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Townes-Brocks Syndrome 1
Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Gastroesophageal reflux, V... OMIM:107480
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Cleft palate, Splenomegaly, Multiple renal cysts, Recurrent ... ORPHA:955
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, High palate, Hydronephrosis, Cleft palate, Pro... ORPHA:2750
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydrone... ORPHA:373
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Bardet-Biedl Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Hypoplasia of penis, Neurogenic... ORPHA:110
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Cleft palate, Pulmonary hypoplasia, Abnormal localizat... ORPHA:1596
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Furrowed tongue, Asplenia, ... ORPHA:564
Williams Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal cysts, Urethral ... ORPHA:904
Trisomy 10P
Abnormality of the kidney, Rectovaginal fistula, Gastroesophageal reflux, High palate, Multiple r... ORPHA:171929
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Anal atresia, Hydronephrosis, Pulmonary hypoplasia, ... OMIM:606170
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Renal cell carcinoma, Polycythemia, Multiple renal cysts, E... ORPHA:892
Liver Disease, Severe Congenital
Pulmonary edema, Protein-losing enteropathy, Anemia, Hypospadias, Lymphocytosis, Recurrent urinar... OMIM:619991
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Cleft palate, Multicystic kidney dysplasia ORPHA:1393
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Abnormal pulmonary vein morphology, ... ORPHA:709
Autosomal Dominant Cutis Laxa
Emphysema, Unilateral renal agenesis, Bronchiolitis, Small bowel diverticula, Bladder diverticulu... ORPHA:90348
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Anteriorly placed anus, Hypospadias, Renal cyst ORPHA:495875
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Pulmonary bulla, Long penis, Enlarged... ORPHA:744
Tetrasomy 9P
Recurrent urinary tract infections, High palate, Median cleft palate, Hydronephrosis, Pulmonary h... ORPHA:3310
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Rectovaginal fistula... ORPHA:857
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Renal cyst OMIM:272460
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Gastroesophageal reflux, Vesicour... ORPHA:199
Robinow Syndrome
Multicystic kidney dysplasia, Ankyloglossia, Hydronephrosis, Webbed penis, Micropenis, Bifid tongue ORPHA:97360
C Syndrome
Renal hypoplasia/aplasia, High palate, Cleft palate, Abnormality of the anus, Multicystic kidney ... ORPHA:1308
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Aganglionic megacolon, Hypospadias, Multicystic kidney dysplasia, Cleft har... ORPHA:261537
Mowat-Wilson Syndrome
Urinary incontinence, Bifid uvula, Dysphagia, Abnormality of the kidney, Aganglionic megacolon, H... ORPHA:2152
Branchiooculofacial Syndrome
Hypospadias, Gastroesophageal reflux, Renal cyst, Renal agenesis, Pyloric stenosis, Cleft palate,... OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Bifid uvula, Dysphagia, Duplication of renal pelvis, Aganglionic megacolon,... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Renal agenesis, Cleft palate, Recu... OMIM:308205
Pallister-Killian Syndrome
Anal stenosis, Hypospadias, Renal cyst, Anal atresia, Intestinal malrotation, Bifid uvula, Pulmon... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Pulmon... OMIM:164210
Pmm2-Cdg
Abnormal renal tubule morphology, High palate, Aspiration pneumonia, Nephrotic syndrome, Proteinu... 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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