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Gene: Smarcal1 MGI:1859183

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Gene Summary

Name:
SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Synonyms:
Mharp,  6030401P21Rik

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
increased hemoglobin content Smarcal1tm1a(EUCOMM)Wtsi HOM   Early adult 7.16×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Ambiguous
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images
Legacy Phenotype Associated Images
Smarcal1tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Smarcal1tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Smarcal1tm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Smarcal1tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Smarcal1tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 73 images

Smarcal1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Smarcal1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Smarcal1 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 Smarcal1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Dispropor... ORPHA:1830
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Disproportionate short-trunk short stature,... OMIM:242900

The table below shows human diseases predicted to be associated to Smarcal1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Clinodactyly of the 5th finger, Nephropathy, Proteinuria ORPHA:2820
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Avascular necrosis ... OMIM:611555
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Galactosemia I
Aminoaciduria, Galactosuria, Failure to thrive, Reduced erythrocyte galactose-1-phosphate uridyly... OMIM:230400
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... OMIM:618882
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Moderate albuminuria, Growth delay, Short toe, Obesity, Proportionate short statur... OMIM:619269
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard... OMIM:301006
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Impaired lympho... OMIM:617006
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Dispropor... ORPHA:1830
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Fibular bowing,... OMIM:300009
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Intrauterine growth retardation, Decrease... OMIM:618347
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:615605
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Renal cortical microcysts, Epiphyseal stippling, Hydronephrosis... OMIM:214100
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Al Amyloidosis
Howell-Jolly bodies, Renal insufficiency, Proteinuria, Weight loss, Renal interstitial amyloid de... ORPHA:85443
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Disproportionate short-trunk short stature,... OMIM:242900
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly o... ORPHA:2774
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Renal hypoplasia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease... OMIM:614376
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Proteinuria, Anemia, Hyperlordosis, Short stature, Nephrotic syndrome ORPHA:1192
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Proteinuria, Me... OMIM:619858
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neu... OMIM:301110
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Short stature, Nephrotic syndrome... OMIM:215250
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Mesomelic short stature, Intrauteri... ORPHA:1765
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Hammertoe OMIM:614455
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Weight loss, Anemia ORPHA:100024
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Hematuria, Tubu... ORPHA:1652
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Increased urinary O-linke... OMIM:256550
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Arachnodactyly, Proteinur... ORPHA:261222
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi... OMIM:300554
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Clinodactyly, IgA depositi... OMIM:618348
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... ORPHA:567544
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Finger swelling, Abnormal phalangeal joint morpholog... ORPHA:90291
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Stage 5... OMIM:166300
Cholestasis, Progressive Familial Intrahepatic, 12
Short stature, Proteinuria, Splenomegaly OMIM:620010
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Intrauterine growth retardation, ... ORPHA:99885
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Cachexia, Weight loss, Microscopic he... ORPHA:77297
Cednik Syndrome
Short stature, Nephrotic syndrome, Proteinuria ORPHA:66631
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Proteinuria, Delayed puberty, Abnormality of the kidney, Short stature, Growth... ORPHA:369
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency, Hemolytic anemia, Normochromic anemia OMIM:245900
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Preeclampsia
Chronic kidney disease, Acute kidney injury, Intrauterine growth retardation, Renal insufficiency... ORPHA:275555
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay ORPHA:169079
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay OMIM:619164
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Clinodactyly, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology OMIM:613501
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal tubular acidos... OMIM:613404
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Abnormally low T cell receptor excision circle level, B lymphocytop... OMIM:618987
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Genu valgum, Proteinuria, Tubulointers... OMIM:618913
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Oligodactyly, Renal insufficiency, Abnormal m... ORPHA:1307
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Postnatal growth retardation, Genu valgum, Multicen... OMIM:223800
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Failure to thrive, Ly... OMIM:102700
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Leukopenia, Pancytopenia, Prot... OMIM:613845
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Clinodactyly, Brachydactyly, Thrombocy... OMIM:618048
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Overtubulated ... OMIM:618150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... OMIM:601457
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia ORPHA:375
Spondyloenchondrodysplasia
Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Chronic kidney disease, Granulom... ORPHA:1855
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Nephrotic Syndrome, Type 1
Growth delay, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial ... OMIM:256300
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Nail-Patella Syndrome
Nephrotic syndrome, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Lumbar hyperl... OMIM:161200
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Growth de... OMIM:619428
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Failure to ... ORPHA:411634
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... OMIM:619824
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvi... OMIM:208500
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Intrauterine growth retardation, Overlapping fingers, B ... OMIM:615966
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, Failure to thrive, B lymphocytopenia ORPHA:277
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Podocyte foot process effacement, Arachnodactyly, Proteinuria, Di... OMIM:619609
Hypomagnesemia 3, Renal
Chronic kidney disease, Genu valgum, Hematuria, Macroscopic hematuria, Short metacarpal, Renal ma... OMIM:248250
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... ORPHA:213
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephrotic syndrome, Nephritis, L... OMIM:617303
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Severe Oculo-Renal-Cerebellar Syndrome
Sandal gap, Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Scoliosis ORPHA:2715
Heme Oxygenase 1 Deficiency
Nephritis, Growth delay, Hematuria, Proteinuria, Coombs-positive hemolytic anemia, Thrombocytosis... OMIM:614034
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies... OMIM:608940
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lymphopenia, Stage 5 ch... OMIM:617575
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobulinuria, Po... OMIM:227810
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... OMIM:618108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Adult-Onset Still Disease
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Proteinuria, Weight loss, Cartilage dest... ORPHA:829
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Microcytic anemia, Splenomegaly, Microscopic hematuria, ... OMIM:619525
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Ddost-Cdg
Short stature, Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Donnai-Barrow Syndrome
Proteinuria, Wide anterior fontanel ORPHA:2143
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tract infections, Hy... OMIM:619487
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Genu ... ORPHA:488627
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Cystinosis, Nephropathic
Genu valgum, Hematuria, Weight loss, Aminoaciduria, Generalized aminoaciduria, Failure to thrive ... OMIM:219800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Osteootohepatoenteric Syndrome
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral r... OMIM:619377
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Nephrotic syn... OMIM:301108
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... ORPHA:18
Galloway-Mowat Syndrome
Nephropathy, Camptodactyly of finger, Intrauterine growth retardation, Proteinuria, Adducted thum... ORPHA:2065
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Decreased glomerular... ORPHA:85450
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Nail-Patella Syndrome
Thickened glomerular basement membrane, Proximal finger joint hyperextensibility, Nephrotic syndr... ORPHA:2614
Galloway-Mowat Syndrome 3
Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disease, Arachnodactyl... OMIM:617729
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Renal insufficiency, Hypochromic microcytic anemia, Anemia, Growth delay, Smal... OMIM:619147
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anemia, Macroscopic hematuria, Membrano... ORPHA:251004
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Hypernatriuria, Low-molecular-wei... ORPHA:47159
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Immunodeficiency 43
Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc... OMIM:241600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal metaphysis morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis,... ORPHA:86818
Ohdo Syndrome
Short stature, Clinodactyly of the 5th finger, Proteinuria OMIM:249620
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased proportion ... OMIM:614700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, A... ORPHA:508542
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Failure to thrive, Cystathioninuria, Methylmalo... OMIM:277400
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Aminoaciduria, Hip dislocation, Finger swelling, Failure to thrive, Camptodactyly ... OMIM:309000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Activated Pi3K-Delta Syndrome
Splenomegaly, Failure to thrive, B lymphocytopenia ORPHA:397596
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Proteinuria, Glomerular sclerosis, Recurrent my... OMIM:607426
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Xfe Progeroid Syndrome
Severe short stature, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Scoliosis OMIM:610965
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Increased body weight, Proteinuria, Renal Fanconi syndrome ORPHA:263455
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Proteinuria, Congenital thrombocytopenia, Anemia OMIM:618886
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Unilateral renal agenesis, Reduced natural killer cell count, Con... ORPHA:221139
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly OMIM:620282
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome ORPHA:330001
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hemolytic anemia, Myoglobinuria, Growth delay ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Cockayne Syndrome B
Severe short stature, Small for gestational age, Square pelvis bone, Failure to thrive, Ivory epi... OMIM:133540
Cornelia De Lange Syndrome 1
Finger aplasia, Hypospadias, Renal hypoplasia, Hypoplastic radial head, Intrauterine growth retar... OMIM:122470
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... OMIM:274150
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Anemia, Urinary mulberry cells OMIM:301500
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Small hand, Severe B lymphocytopenia, Renal hypoplasia, Lymphopenia, Intrauteri... OMIM:620005
Cockayne Syndrome Type 1
Failure to thrive, Postnatal growth retardation, Renal insufficiency, Proteinuria, Anemia, Scoliosis ORPHA:90321
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Alg12-Cdg
Hypospadias, Sandal gap, Failure to thrive, Overlapping fingers, Intrauterine growth retardation,... ORPHA:79324
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Postnatal growth retardation, Overlapping toe, Contracture of the distal inter... ORPHA:83617
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria ORPHA:549
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce... ORPHA:713
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Slender finger, Intrauterine growth retardation, Renal insuff... OMIM:251300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Lumbar hyperlordosis, Hepatosple... ORPHA:505248
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Intrauterine growth retardation, Multiple bladder dive... ORPHA:2728
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Arima Syndrome
Postaxial foot polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wastin... OMIM:243910
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hematuria, Proximal renal tubular acidosis, Hip dislocation, Aminoaciduria, Renal in... ORPHA:534
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Eosinophilia, Weight loss, Glomerulopathy, Tubuloint... ORPHA:183
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Cryoglobulinemic Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy ORPHA:91138
Cockayne Syndrome A
Square pelvis bone, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:216400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Renal tubular acidosis, Increased body weight, Anemia, Abnormal ... ORPHA:264580
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nephropathy, Avascular necrosis of the capital femoral epiphysis, Proteinuria,... ORPHA:247691
Simple Cryoglobulinemia
Nephritis, Renal insufficiency, Mesangial hypercellularity, Chronic lymphatic leukemia, Proteinur... ORPHA:91139
Donnai-Barrow Syndrome
Proteinuria, Short sternum, Non-acidotic proximal tubulopathy, Wide anterior fontanel OMIM:222448
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy ORPHA:36412
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, ... ORPHA:244242
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, Hepatosplenom... OMIM:606367
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Splenomegaly, Renal tubular acidosis, Increased body weight, Myoglo... ORPHA:79240
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Growth delay, Dicarboxylic aciduria OMIM:231530
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Proteinuria, Posta... OMIM:619471
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria ORPHA:71273
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Failure to thrive, Proteinuria, Renal cyst, Thrombocytosis, Nephrotic syndr... OMIM:212065
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Splenomegal... OMIM:602450
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... ORPHA:411629
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Aymé-Gripp Syndrome
Postnatal growth retardation, Proteinuria, Radioulnar synostosis, Short stature, Camptodactyly, C... ORPHA:1272
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Reticul... OMIM:232800
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria... ORPHA:1018
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia OMIM:251900
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Intrauterine growth retardation, ... OMIM:620133
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Pearson Syndrome
Bone marrow hypocellularity, Glycosuria, Postnatal growth retardation, Pancytopenia, Renal insuff... ORPHA:699
Cockayne Syndrome
Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Abnormal epiphysis morphology,... ORPHA:191
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Hemophagocytosis, Failure to thrive, Oroticaci... ORPHA:470
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Renal insufficiency, Proteinuria, Glom... ORPHA:93126
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dicarboxylic aciduria, Intrauterine growth retardation, Proportionate short st... ORPHA:71212
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Abnormality of body weight, Leukopenia, Decreased body weight, Increased b... ORPHA:2298
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype... ORPHA:447
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Papa Syndrome
Proteinuria ORPHA:69126
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor... ORPHA:2750
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia, Myoglobinuria OMIM:255125
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis, Short stature OMIM:300519
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis, Recurrent myoglobinuria ORPHA:254854
Vater/Vacterl Association
Abnormal vertebral morphology, Hypospadias, Failure to thrive, Short thumb, Preaxial polydactyly,... OMIM:192350
Glycogen Storage Disease Xii
Normocytic anemia, Splenomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activit... OMIM:611881
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Small for gestational age, Failure to thrive OMIM:609015
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria... ORPHA:79259
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Nijmegen Breakage Syndrome
Sandal gap, Recurrent urinary tract infections, Intrauterine growth retardation, Autoimmune hemol... OMIM:251260
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Sandal gap, Decreased fibular diameter, Postnatal growth reta... OMIM:619127
Fabry Disease
Nephropathy, Abnormal femur morphology, Renal insufficiency, Hematuria, Proteinuria, Anemia, Abno... ORPHA:324
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... OMIM:194380
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Protein... ORPHA:550
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Holoprosencephaly
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Failure to thrive in in... ORPHA:2162
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Wagro Syndrome
Proteinuria, Obesity, Nephroblastoma OMIM:612469
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Delayed puberty, Thrombocytopenia, Anemia, Gr... ORPHA:77261
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Failure to... ORPHA:293978
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Polydactyly, Proteinuria, Brachydactyly, Short 2nd toe,... OMIM:311200
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly, Renal artery stenosis, Au... ORPHA:391487
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Ren... OMIM:232240
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Renal tubular acidosis, Proteinu... ORPHA:358
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... ORPHA:35078
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Flexion contracture of finger ORPHA:206549
Neuroleptic Malignant Syndrome
Acute kidney injury, Leukocytosis, Proteinuria, Myoglobinuria, Thrombocytopenia, Thrombocytosis, ... ORPHA:94093
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Williams Syndrome
Genu valgum, Radioulnar synostosis, Failure to thrive in infancy, Obesity, Renal insufficiency, R... ORPHA:904
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Wilson Disease
Aminoaciduria, Glycosuria, Splenomegaly, Hyperphosphaturia, Renal tubular dysfunction, Nephrolith... OMIM:277900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Thrombocytopenia, Hemolytic ane... ORPHA:536
Lymphatic Filariasis
Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Abnormality ... ORPHA:2035
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Ataxia-Telangiectasia
Failure to thrive, Leukemia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Ab... OMIM:208900
Relapsing Polychondritis
Chondritis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Chondritis of pinna ORPHA:728
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency ORPHA:556
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent urinary tract infections, Absent circulating B cells, Delayed pu... OMIM:307200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology ORPHA:85448
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Hydr... ORPHA:900
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia OMIM:601495
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Reduced hematocrit, D... ORPHA:91500
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Sc... ORPHA:90038
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Delay... ORPHA:355
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Leukocytosis, Splenomegaly, Proteinuria, Nephrotic syndrome ORPHA:342
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Clinodactyly of the 5th finger, Overlapping toe, Scoliosis OMIM:616682
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Decreased urine output, Throm... ORPHA:544482
Cocaine Intoxication
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis ORPHA:90068
Immunoglobulin A Vasculitis
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:761
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Postinfectious Vasculitis
Hematuria, Proteinuria, Weight loss, Glomerulonephritis, Membranoproliferative glomerulonephritis ORPHA:48435
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, N... ORPHA:99827
Kawasaki Disease
Proteinuria, Leukocytosis, Sterile pyuria, Thrombocytosis ORPHA:2331
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, Weight lo... OMIM:619381
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Pmm2-Cdg
Platyspondyly, Failure to thrive, Kyphoscoliosis, Proteinuria, Impaired neutrophil chemotaxis, Ab... ORPHA:79318

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 Smarcal1

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 Smarcal1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BRCA1 and 53BP1 regulate reprogramming efficiency by mediating DNA repair pathway choice at replication-associated double-strand breaks. Cell reports (March 2024) Smarcal1tm1a(EUCOMM)Wtsi 38554279
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Smarcal1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Smarcal1tm1a(EUCOMM)Wtsi PMC6459510

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
Smarcal1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Smarcal1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smarcal1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Smarcal1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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