banner
Genes Phenotypes Help, News, Blog

Gene: Nelfa MGI:1346098

Log in to follow

Gene Summary

Name:
negative elongation factor complex member A, Whsc2
Synonyms:
Whsc2,  Nelf-A,  Whsc2h

Order Alleles

IMPC Data Collections

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
prenatal lethality prior to heart atrial septation Nelfaem1(IMPC)Tcp HOM   E15.5 0.00
preweaning lethality, complete penetrance Nelfaem1(IMPC)Tcp HOM   Early adult 0.00
increased red blood cell distribution width Nelfaem1(IMPC)Tcp HET Early adult 2.72×10-05
abnormal skin morphology Nelfaem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Nelfaem1(IMPC)Tcp HOM   E9.5 0.00
enlarged urinary bladder Nelfaem1(IMPC)Tcp HET Early adult 0.00
increased spleen weight Nelfaem1(IMPC)Tcp HET Early adult 1.22×10-05
polycystic kidney Nelfaem1(IMPC)Tcp HET Early adult 0.00
increased heart weight Nelfaem1(IMPC)Tcp HET Early adult 6.94×10-05
abnormal sternum morphology Nelfaem1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

36 Images

View images
Gross Pathology and Tissue Collection

Images

9 Images

View images
Eye Morphology

Images Slit Lamp

3 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Human diseases caused by Nelfa 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 Nelfa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Hypospadias, Abnormality of the kidney, ... ORPHA:280

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p... OMIM:224120
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Campomelia, Cumming Type
Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polysplenia, Polycystic kid... OMIM:211890
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Ethanolaminosis
Cardiomegaly OMIM:227150
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... OMIM:619902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Femoral-Facial Syndrome
Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal rib morphology, Rib fusion, Coxa vara... ORPHA:1988
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, ... OMIM:604273
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Abnormal cardiac septum ... OMIM:608776
Meckel Syndrome, Type 8
Pericardial effusion, Polydactyly, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged ... OMIM:613885
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Metaphyseal widening, Flat acetabular roof, Cone-shaped epiphyse... OMIM:184260
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial... OMIM:614091
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatiti... OMIM:145001
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse OMIM:173900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Horizontal ribs, M... OMIM:613091
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... ORPHA:2091
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... OMIM:615993
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... ORPHA:140976
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Trimethylaminuria OMIM:602079
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Gillessen-Kaesbach-Nishimura Syndrome
Metaphyseal widening, Abnormal heart morphology, Periportal fibrosis, Short long bone, Narrow gre... OMIM:263210
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst, Hepatomegaly OMIM:614870
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preaxial polydactyly, 2-3 toe s... OMIM:617866
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ureteral duplication, Renal insufficiency, Hepatomegaly, Tapered toe, Long-chain dicarb... OMIM:608836
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Metatarsus adductus, Jaundice, Abnormal heart morp... OMIM:214110
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Trisomy 17P
Hypoplasia of penis, Urethral valve, Tapered finger, Urethral stenosis, Hypoplastic left heart, P... ORPHA:261290
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abno... ORPHA:314588
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, ... OMIM:243910
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Renal cyst OMIM:174050
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... OMIM:610199
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Renal... OMIM:614815
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of the kidney, Cholangitis, Portal h... ORPHA:480520
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, C... ORPHA:26791
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Missing ribs, Split... OMIM:200980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:263520
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... OMIM:613390
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Renal cyst, Transposition of the great arteries, Double o... OMIM:231060
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t... OMIM:615415
Joubert Syndrome 39
Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic ki... OMIM:619562
Branchiootorenal Syndrome 1
Renal malrotation, Congenital hip dislocation, Unilateral renal agenesis, Renal steatosis, Polycy... OMIM:113650
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Metatarsus... OMIM:614866
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Trisomy X
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl... ORPHA:3375
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Joubert Syndrome 16
Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
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
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst OMIM:614970
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... OMIM:607361
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... OMIM:267010
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cystic renal ... OMIM:181180
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Dextrocardi... OMIM:615994
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Multiple renal cysts, Abnormal hip bone morp... ORPHA:1166
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Renal agenesis, S... OMIM:134780
Diaphanospondylodysostosis
Narrow pelvis bone, Multiple renal cysts, Missing ribs ORPHA:66637
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... ORPHA:464329
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Prune Belly Syndrome
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ... ORPHA:2970
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ... OMIM:208500
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abnormal abdomen morphology, Multip... OMIM:216360
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Polycystic kidney dys... OMIM:616546
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis... OMIM:249000
15q26 overgrowth syndrome
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... DECIPHER:81
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Foot ... OMIM:616589
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, 2-3 toe syndactyly, Clinodactyly of the 5th... OMIM:606232
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atrial septal defect, Mesocardia, Dislocate... ORPHA:2044
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Mckusick-Kaufman Syndrome
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p... OMIM:236700
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Missing ribs, Abnormality of the spleen, Abnormality of the ureter, Abn... ORPHA:1834
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asy... OMIM:252920
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Distal Deletion 12Q
Broad hallux, Overlapping toe, Ectopic kidney, Biliary atresia, 2-3 toe syndactyly, Annular pancr... ORPHA:96149
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Hydronephrosis, Polycy... ORPHA:2237
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Orofaciodigital Syndrome I
Syndactyly, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Short 2nd toe... OMIM:311200
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Femoral bowing, Atrial septal ... OMIM:210710
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... OMIM:300855
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... OMIM:611560
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Bowing of the long bones, Pancreatic cysts, Abnormali... ORPHA:1318
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil... OMIM:611561
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst OMIM:605231
22Q11.2 Deletion Syndrome
Atrial septal defect, Hypospadias, Arachnodactyly, Abnormality of the tonsils, Ventricular septal... ORPHA:567
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndactyly, Clinod... OMIM:236500
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, In... ORPHA:79277
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Renal cyst, Foot acroosteolysis, Osteolytic defects of th... OMIM:102500
Meckel Syndrome, Type 10
Hypospadias, Postaxial polydactyly, Malformation of the hepatic ductal plate, Postaxial hand poly... OMIM:614175
Verheij Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Renal hypoplasia,... OMIM:615583
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Small hand, Campt... OMIM:619980
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Peritoneal abscess, Abnormality of th... ORPHA:400
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Abnormal rib... ORPHA:3404
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Hip dysplasia, ... ORPHA:30
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst, Hepatomegaly OMIM:614862
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Meckel Syndrome, Type 4
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Bile... OMIM:611134
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... ORPHA:2473
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys... ORPHA:79303
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Multicystic kidney dysplasia, Hepatomegaly, Renal agenesis, At... ORPHA:2538
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, P... ORPHA:284
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, B... ORPHA:445038
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Lymphangiectasis OMIM:602579
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Mosaic Trisomy 1
Long toe, Broad toe, Hepatic agenesis, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campto... ORPHA:1692
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot p... OMIM:615989
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda... OMIM:603194
Trisomy 13
Ventricular septal defect, Postaxial hand polydactyly, Abnormal rib morphology, Abnormality of th... ORPHA:3378
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Rocker bottom foot, Camptodactyl... ORPHA:99776
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis... OMIM:266920
Diaphanospondylodysostosis
Nephrogenic rest, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvis bone, Hammer... OMIM:608022
Meckel Syndrome, Type 6
Absent gallbladder, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot poly... OMIM:612284
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, ... OMIM:269860
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Renal cyst, Abnormal... ORPHA:488618
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of th... OMIM:268300
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis OMIM:601539
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Renal agenesis, Ventricu... OMIM:220500
Pallister-Hall Syndrome
Renal dysplasia, Syndactyly, Hydroureter, Mesoaxial foot polydactyly, Toe syndactyly, Distal uret... OMIM:146510
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... ORPHA:2869
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricula... ORPHA:261344
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal mesentery morphology, Postaxial hand polydact... ORPHA:2075
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Renal cyst, Vesicoureteral reflux, Clinodactyly of t... OMIM:122470
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal ... ORPHA:2031
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Renal c... ORPHA:166035
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis... ORPHA:73246
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Polysplenia, Asc... OMIM:200995
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Metaphyseal ch... OMIM:250410
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,... ORPHA:110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcino... OMIM:615398
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... OMIM:617478
Immunodeficiency 96
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... OMIM:619774
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoure... OMIM:618460
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Renal hypoplasia, Renal cyst, F... OMIM:616300
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Nabais Sa-De Vries Syndrome, Type 2
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hypoplastic left heart, Tapered finger OMIM:618829
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Short sternum, Leukemia, P... OMIM:257300
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Hypoplasia of the radius,... ORPHA:3015
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Rib fusion, Abnormal heart morphology, Hand polydacty... ORPHA:261197
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Abnormal shoulder morphology, Abnormal... ORPHA:2115
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuri... ORPHA:552
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... ORPHA:1454
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... OMIM:117650
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Cranioectodermal Dysplasia 2
Syndactyly, Renal insufficiency, Hepatomegaly, Atrial septal defect, Cholangitis, Splenomegaly, P... OMIM:613610
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Atrial septal defect, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short... OMIM:620076
Chromosome 17Q12 Deletion Syndrome
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... OMIM:614527
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Campt... ORPHA:2092
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Radioulnar syn... ORPHA:85201
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Hepatoblastoma, Clinodacty... ORPHA:373
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Down-sloping shoulders, Renal cyst, Tapered finger OMIM:615560
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Nephrotic syndrome, Ca... OMIM:212065
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, J... ORPHA:93111
Fryns Syndrome
Ureteral duplication, Atrial septal defect, Ectopic pancreatic tissue, Renal agenesis, Hypospadia... OMIM:229850
2Q37 Microdeletion Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Small hand, Sh... ORPHA:1001
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of the legs, Long hal... OMIM:617107
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Jaundice, Epi... ORPHA:912
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Abnormal fibula morpholog... ORPHA:1190
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h... OMIM:193300
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
D-Bifunctional Protein Deficiency
Hepatomegaly, Fetal ascites, Splenomegaly, Split hand, Renal cyst, Cholestasis, Hammertoe, Bile d... OMIM:261515
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... ORPHA:261494
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Atrial septal defect, Hepat... OMIM:312870
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Atrial septal defect, Micr... OMIM:270400
Joubert Syndrome 14
Postaxial polydactyly, Ventricular septal defect, Renal cyst OMIM:614424
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalcinosis, Slender long bone, Abnormal... ORPHA:369837
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Trisomy 20P
Finger syndactyly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Preaxial hand... ORPHA:261318
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Short ribs, Renal cyst OMIM:615636
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Multicystic kidney dysplasia, Abnormal rib morphology, M... ORPHA:3301
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of t... ORPHA:1507
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Hypospadias, Ventricular septal defect, Unilateral renal agenesis,... ORPHA:464311
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... ORPHA:1606
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Ventricula... ORPHA:464306
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, 2-3 toe cutaneous syndactyly, Renal hypoplasia, Renal cyst, Short foot... OMIM:618454
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea... ORPHA:261265
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, P... ORPHA:564
Alagille Syndrome 1
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Hypoplasia of ... OMIM:118450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th... ORPHA:991
Jacobsen Syndrome
Broad hallux phalanx, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Ventricula... ORPHA:2308
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Mitral atresia... ORPHA:1596
Joubert Syndrome 1
Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Hepatic fibrosis, Nephropathy... OMIM:213300
Joubert Syndrome 2
Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Nephrono... OMIM:608091
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology, Clinodactyly of th... ORPHA:2059
Schinzel-Giedion Syndrome
Overlapping fingers, Hypospadias, Overlapping toe, Myeloid leukemia, Abnormality of the ureter, N... ORPHA:798
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Bowed humerus, Tarsal synostosis, Capi... OMIM:272460
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena... ORPHA:49
Orofaciodigital Syndrome Type 1
Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto... ORPHA:2750
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Vesicou... ORPHA:857
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Atrial septal defect, Atrioventricular canal de... ORPHA:818
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Robinow Syndrome
Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Ventricular septal defect, Bifid distal ... ORPHA:97360
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add... ORPHA:261349
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... OMIM:613254
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly... ORPHA:538
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy... OMIM:107480
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas... ORPHA:116
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Hypospadias, Ventricular septal defect, Renal cyst, Hip dysplasia, Clinodactyly of th... OMIM:616975
Hajdu-Cheney Syndrome
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the lon... ORPHA:955
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries ORPHA:137675
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Renal dysplasia, Renal cyst OMIM:617260
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Multicystic kidney dysplasia, Arachnodactyly, Ventricular septal defect, Os... OMIM:300373
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hypoplastic scapulae, Pe... ORPHA:3310
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal rib morphology, Proximal renal tubular... ORPHA:534
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Ventricular septal defect, Posterio... ORPHA:1393
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Displacement of the urethral mea... ORPHA:1556
Trisomy 10P
Thumb contracture, Absent gallbladder, Abnormality of the kidney, Short toe, Abnormal heart morph... ORPHA:171929
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Subvalvular aor... ORPHA:1052
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis bone ossi... ORPHA:93271
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Craniorachischisis
Bifid sternum ORPHA:63260
Proteus Syndrome
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Metatarsus valgus, Enlarged p... ORPHA:744
Cornelia De Lange Syndrome
Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp... ORPHA:199
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def... OMIM:606170
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Hypospadias, Brachydactyly, R... ORPHA:709
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r... ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r... ORPHA:2152
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Renal hypoplasia/aplasia, Horseshoe kidney, Hand po... ORPHA:1308
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r... ORPHA:261552
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly... ORPHA:2052
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Proximal placement of thumb, Short thumb, Preaxial hand polydactyly,... OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Postaxial h... OMIM:308205
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Pallister-Killian Syndrome
11 pairs of ribs, Atrial septal defect, Congenital hip dislocation, Hypospadias, Ventricular sept... OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Partial ... OMIM:164210
Pmm2-Cdg
Pericarditis, Proteinuria, Pericardial effusion, Long fingers, Abnormal liver parenchyma morpholo... ORPHA:79318
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Hypospadias, Abnormality of the kidney, ... ORPHA:280

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 Nelfa

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 Nelfa.

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

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
Nelfatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nelfaem1(IMPC)Tcp Exon Deletion Mice
Nelfatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nelfatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter