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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 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.

Embryo LacZ

LacZ images wholemount

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

2 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
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... 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
Facial edema, Angioedema, 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, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis 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
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Hematem... OMIM:263200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia ORPHA:3032
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... OMIM:135150
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Lymphatic Malformation 3
Lymphedema OMIM:613480
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
White Sponge Nevus 2
Edema OMIM:615785
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Meckel Syndrome, Type 8
Cleft palate, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent pneumonia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen... ORPHA:3033
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Branchiootorenal Syndrome 1
Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala... OMIM:113650
Lymphatic Malformation 10
Lymphedema OMIM:619369
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Cleft palate, Abnormal localization of kidney, Polycystic k... ORPHA:1988
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Pancreatic cysts, Asplenia, Splenomegaly, Ureteral a... OMIM:208540
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar... OMIM:619445
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Pulmonary hypo... OMIM:614091
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Odontochondrodysplasia 1
Recurrent respiratory infections, Polycystic kidney dysplasia, Pulmonary hypoplasia, Nephronophth... OMIM:184260
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... ORPHA:2970
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Hepatoblastoma, Oliguria, Hepatosplenomegaly, Reduced renal corticome... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, High palate, Pulmona... ORPHA:314588
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Cleft palate, Macroglossia, High palate, ... ORPHA:261290
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Pulmonary hypoplasia, Polycystic kidney... OMIM:236700
Alpha-Heavy Chain Disease
Splenomegaly, Abnormal small intestine morphology, Anemia, Malabsorption ORPHA:100025
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst OMIM:617100
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter... ORPHA:1834
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre... OMIM:613091
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
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico... OMIM:243910
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Narrow palate, Hydro... OMIM:608836
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Syndromic Diarrhea
Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Colit... ORPHA:84064
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia OMIM:617866
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts ORPHA:2924
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Fanconi Anemia, Complementation Group O
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis, Anal atresia OMIM:613390
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Caroli Syndrome
Cholangiocarcinoma, Liver abscess, Abnormality of the kidney, Hematemesis, Hypersplenism, Leukocy... ORPHA:480520
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Meckel Syndrome 14
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:619879
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cleft palate, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia OMIM:214110
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, Renal tubular e... ORPHA:228308
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cleft palate, Multiple renal cysts, Vesicoureteral reflux, Abnormality ... ORPHA:1166
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Renal cyst OMIM:231060
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int... OMIM:243150
Caroli Disease
Cholangiocarcinoma, Liver abscess, Splenomegaly, Leukocytosis, Esophageal varix, Polycystic kidne... ORPHA:53035
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Gastroesophageal reflux, High palate, Polycystic kidney dysplasia, Ves... OMIM:606232
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia, Splenic cyst OMIM:610199
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... ORPHA:139466
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d... ORPHA:2237
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Micropenis, Pulmonary hypoplasia, Poly... OMIM:263520
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Splenomegaly, Cleft palate, Renal cyst, Hepatosplenomegaly, High palate, Polycystic ... OMIM:614866
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Say Syndrome
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia OMIM:181180
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, T lymphocytopenia, Pulmonary fibrosis, Decreas... OMIM:619510
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Abscess, Eosinophilia, Peritoneal abscess, Renal cyst, ... ORPHA:400
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric stenosis, Microglossia, Polycyst... ORPHA:96149
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro... ORPHA:79327
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... OMIM:611376
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Cleft palate, Pulmonary hypoplasia, Polycystic kidney dysplasia, Micropenis OMIM:616546
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Inf... ORPHA:445038
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Atelecta... ORPHA:567
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... ORPHA:805
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, High palate, Pu... OMIM:200980
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Asplenia, Sp... OMIM:249000
Joubert Syndrome 18
Lobulated tongue, Cleft palate, Renal cyst, Horseshoe kidney OMIM:614815
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, H... ORPHA:2538
Orofaciodigital Syndrome I
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L... OMIM:311200
Scedosporiosis
Pneumonia, Bronchitis, Abnormal renal morphology, Pleural empyema, Pulmonary fibrosis, Pleuritis,... ORPHA:449280
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Diaphanospondylodysostosis
Multiple renal cysts, Cleft palate ORPHA:66637
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... DECIPHER:81
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:236500
Whim Syndrome
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... ORPHA:51636
Joubert Syndrome 20
Renal cyst OMIM:614970
Matthew-Wood Syndrome
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormal spleen ... ORPHA:2470
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration, Meckel divertic... ORPHA:2847
Ogden Syndrome
Global glomerulosclerosis, Thrombocytopenia, Pulmonary artery stenosis, Narrow palate, Iron defic... OMIM:300855
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Renal cyst, High palate, Polycystic kidney dysplasia OMIM:102500
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Congenital Tracheal Stenosis
Meckel diverticulum, Cyanosis, Abnormality of the kidney, Abnormal stomach morphology, Abnormal l... ORPHA:141127
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... OMIM:200995
Coach Syndrome 1
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Esophageal varix, ... OMIM:216360
Meckel Syndrome, Type 6
Bilobed right lung, Renal cyst, Horseshoe kidney, Cleft palate, Aplasia of the bladder, Pulmonary... OMIM:612284
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Extramedullary hematopoiesis, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... ORPHA:1666
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Celiac disease, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Asplenia, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, En... OMIM:615415
Immunodeficiency 96
Recurrent lower respiratory tract infections, Increased proportion of gamma-delta T cells, Multic... OMIM:619774
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Spontaneous pneumothorax, Protein-losing enteropathy OMIM:618154
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... OMIM:601346
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Renal cyst OMIM:603194
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Horseshoe ... OMIM:115470
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... ORPHA:107
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Roberts Syndrome
Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cleft p... ORPHA:2059
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Meckel Syndrome, Type 10
Hypospadias, Cleft palate, Renal cyst, Micropenis, Bifid uvula OMIM:614175
Braddock-Carey Syndrome 1
Anteriorly placed anus, Thrombocytopenia, Multicystic kidney dysplasia, Cleft palate OMIM:619980
Verheij Syndrome
Cleft palate, Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Trisomy 13
High, narrow palate, Abnormality of the ureter, Abnormal lung lobation, Cleft palate, Multiple re... ORPHA:3378
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Axial Osteomalacia
Renal cyst OMIM:109130
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric ... ORPHA:261494
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts, Abnormal inte... ORPHA:1318
Meckel Syndrome, Type 5
Cleft palate, Renal cyst OMIM:611561
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Urinary retention, ... OMIM:155310
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cleft palate, Gastroesophageal reflu... OMIM:134780
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts... OMIM:193300
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Vil... OMIM:614162
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Chyl... ORPHA:3015
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Malrotation of colon, High, narrow palate, P... OMIM:122470
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Eosinophilia, Pancreatic cysts, Renal cyst, Anemia, Abnormal splee... ORPHA:284
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate OMIM:615398
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Pulmonary hypoplasia, Cyst... OMIM:608022
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Aganglionic megacolon, Intestinal malrotation,... OMIM:229850
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Abnormal lung lobation... OMIM:146510
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Abnormal lung morphology, Splenomegaly, Hepatosplenomegaly, A... ORPHA:464329
Ulbright-Hodes Syndrome
Abnormal penis morphology, Pneumothorax, Renal hypoplasia, High palate, Pulmonary hypoplasia, Pol... ORPHA:3404
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Gastroesophageal reflux, Polycystic kidney dysplasia, Micropenis OMIM:210710
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Neutropenia, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux... OMIM:618460
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Cleft palate, Leukemia, Mi... OMIM:257300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Hypospadias, Esophageal atresia, Pulmonary artery stenosis, Par... OMIM:265380
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Pulmonary lymphangiectasia, Horseshoe kidney, Narrow palate, Hyd... OMIM:235510
Nabais Sa-De Vries Syndrome, Type 2
Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate OMIM:618829
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Anal atresia ORPHA:3301
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Abnormal lung lobation, H... ORPHA:99776
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Renal neop... ORPHA:538
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Lymphopenia, Neutropenia OMIM:616395
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... ORPHA:93111
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuri... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Protein-losing enteropathy, Anemia OMIM:608104
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Steatorrhea, ... OMIM:212065
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, High palate, Hydronep... ORPHA:912
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Pulmonary lymphangiectasia, Cleft palate, Protein-losing enteropathy, High palate, ... OMIM:235255
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys... OMIM:220500
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Cleft palate, Pulmonary hypoplasia, Pulmonary artery atresia, M... ORPHA:1692
Atelosteogenesis Type I
Malrotation of colon, Multiple renal cysts, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Normocytic anemia, Macrocytic anemia, Transient neutro... ORPHA:811
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Abnormal lung lobation, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnorm... ORPHA:369837
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Cleft palate OMIM:607361
Trisomy 1Q
Multicystic kidney dysplasia, Cleft palate, Congenital megaureter, Hydronephrosis, Anal atresia ORPHA:261344
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losing... OMIM:618440
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Abnormal renal morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, High pal... ORPHA:1655
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Tarp Syndrome
Cyanosis, Extramedullary hematopoiesis, Cleft palate, Horseshoe kidney, Glossoptosis, Pulmonary h... ORPHA:2886
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial anomalous pulmonary venous return, Cyanosis, Renal cyst OMIM:617478
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue, Pulmonary hypo... OMIM:616300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kid... OMIM:208500
Meckel Syndrome, Type 4
Cleft palate, Renal cyst OMIM:611134
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... ORPHA:99880
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter,... OMIM:617107
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Bra... ORPHA:2929
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Abnormal lung lobation, Cleft palate, Acute l... ORPHA:1052
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ... ORPHA:143
Harrod Syndrome
High palate, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Renal insufficiency, Gastritis, Hematemesis, Atelecta... ORPHA:73263
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Recurrent upper respiratory tract infections, Hematochezia, Protein-losing enteropathy,... OMIM:618183
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Joubert Syndrome 14
Cleft palate, Renal cyst OMIM:614424
Pearson Syndrome
Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, ... ORPHA:699
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Pulmonary hypoplasia ORPHA:85201
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Aplasia/Hypoplasia of t... ORPHA:2092
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic k... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Renal cyst, Gastroesophageal reflux, Mi... ORPHA:464306
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophageal reflux, Microp... OMIM:270400
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Atelectasis, Splenomegaly, Renal hypoplasia, Lobulat... OMIM:269860
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate ORPHA:261197
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Recurrent respiratory infections, Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney ... OMIM:266920
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Branchio-Oculo-Facial Syndrome
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
2Q37 Microdeletion Syndrome
Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Long penis, Horseshoe kidney, Cleft palate, High palate, Polycysti... OMIM:268300
Chylomicron Retention Disease
Acanthocytosis, Fat malabsorption, Steatorrhea ORPHA:71
Joubert Syndrome 2
Renal insufficiency, High palate, Renal cyst, Nephronophthisis OMIM:608091
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, High palate, Dysphagia, Hydroneph... ORPHA:261349
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Joubert Syndrome 21
Splenomegaly, Renal cyst, Pulmonary hypoplasia, Dysphagia, Hyperechogenic kidneys OMIM:615636
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Abnormal lung morphology, Horseshoe kidne... ORPHA:1708
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Pyelonep... ORPHA:90349
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cleft palate ORPHA:2075
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypospadias, Aganglionic megacolon, Recurrent pneumonia, Abnormality of the ure... ORPHA:798
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed... OMIM:117650
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatosplenomegaly ORPHA:79302
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Cleft palate, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Intestinal malrotation, Pyloric s... ORPHA:2308
Histiocytoid Cardiomyopathy
Cyanosis, Cleft palate, Polycystic ovaries, Renal cyst, Pulmonary edema ORPHA:137675
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Neoplasm of the liver, Nephropathy ORPHA:1454
Joubert Syndrome 1
Macroglossia, Nephropathy, Renal cyst, Protruding tongue OMIM:213300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... ORPHA:500095
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption... ORPHA:534
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... OMIM:613254
Fanconi Anemia
Leukopenia, High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Anemi... ORPHA:84
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis OMIM:191100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Renal cyst, Furrowed tongue, High palate, Gastroesophageal reflux, Vesicoureteral re... OMIM:616975
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Aganglionic megacolon, Renal hypo... ORPHA:818
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Pulmonary arte... ORPHA:991
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... ORPHA:512
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Anal stenosis, Intestinal malrotation, Cleft palate, Gastroesophage... OMIM:300373
D-Bifunctional Protein Deficiency
Splenomegaly, High palate, Renal cyst OMIM:261515
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Renal hypoplasia, Renal cyst, Ec... ORPHA:93271
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Splenomegaly, Abnormal lun... OMIM:312870
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Cle... OMIM:219000
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Abnormality of the... ORPHA:1606
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ectopic anus... ORPHA:1507
Cranioectodermal Dysplasia 2
Renal insufficiency, Splenomegaly, Recurrent pneumonia, Cleft palate, Renal cyst, High palate, Po... OMIM:613610
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Anal stenosis, Re... OMIM:107480
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Abnormal lung loba... ORPHA:2052
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Splenomegaly, Nephrolithiasis, Hypercalciuria, Cleft palate... ORPHA:116
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Nephrotic syndrome, High palat... OMIM:601776
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Pancreatic c... ORPHA:2750
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Splenomegaly, Cleft palate... ORPHA:955
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... ORPHA:904
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the t... ORPHA:564
Trisomy 10P
Abnormality of the kidney, Dysphagia, High palate, Multiple renal cysts, Rectovaginal fistula, Ga... ORPHA:171929
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Cleft palate, Pulmona... ORPHA:1596
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ... OMIM:606170
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... ORPHA:892
Cerebrocostomandibular Syndrome
Glossoptosis, Multicystic kidney dysplasia, Short hard palate, Cleft palate ORPHA:1393
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Pneumonia, Splenomegaly, Anem... OMIM:619991
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Anteriorly placed anus, Gastroesophageal reflux, Hypospadias, Renal cyst ORPHA:495875
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... ORPHA:709
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Cleft palate, Bifid uvula,... ORPHA:3310
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Renal cyst OMIM:272460
Robinow Syndrome
Multicystic kidney dysplasia, Webbed penis, Micropenis, Bifid tongue, Ankyloglossia, Hydronephrosis ORPHA:97360
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal m... ORPHA:199
Proteus Syndrome
Thymus hyperplasia, Enlarged polycystic ovaries, Splenomegaly, Long penis, Abnormal lung lobation... ORPHA:744
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Cleft palate, High pala... ORPHA:1308
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Aganglio... ORPHA:261537
Mowat-Wilson Syndrome
Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vesicoureteral r... ORPHA:2152
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Malrotation of colon, Pyloric stenosis, Renal cyst, Cleft palate, Ga... OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... OMIM:308205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, Webbed penis, Micropeni... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Pallister-Killian Syndrome
Anal stenosis, Hypospadias, Intestinal malrotation, Renal cyst, Cleft palate, Anteriorly placed a... OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Pulmonary hypoplasia,... OMIM:164210
Pmm2-Cdg
Proteinuria, Nephrotic syndrome, Multiple renal cysts, High palate, Aspiration pneumonia, Impaire... 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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