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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
Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Short stature, Minim... ORPHA:1830
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of the femoral head, Neutrope... 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
Imbalanced hemoglobin synthesis, Anemia 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
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... 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
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
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
Short stature, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia... OMIM:611555
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Galactosemia I
Hemolytic anemia, Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urin... 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
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Proteinuria, Thrombocytopenia OMIM:189800
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 17
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the ha... OMIM:619269
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Galloway-Mowat Syndrome 2, X-Linked
Arachnodactyly, Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic ki... OMIM:301006
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Preeclampsia
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... ORPHA:275555
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Short stature, Minim... ORPHA:1830
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... OMIM:608940
Galloway-Mowat Syndrome 6
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Rocker bottom foot, Metatarsus adductus, Wide anterior fontanel, Epiphyseal stipplin... OMIM:214100
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Bowing of the legs, Growth delay, Aminoaciduria, Glycosuria, Lo... OMIM:615605
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Al Amyloidosis
Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, Renal interstit... ORPHA:85443
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of the femoral head, Neutrope... OMIM:242900
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Slender long bone, Metacarpal osteolysis, Abnorma... ORPHA:2774
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Proteinuria, Hyperlordosis, Nephrotic syndrome, Nephropathy, Anemia ORPHA:1192
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth d... OMIM:619858
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Short iliac bones, Glomerulonephritis, Metaphyseal wideni... OMIM:614376
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Proteinuria, Ulnar bowing, Nephropathy, Hematuria, Mesomelic short ... ORPHA:1765
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Short stature, Abnormal T cell morphology, Nephrotic synd... OMIM:215250
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Hammertoe, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic kidney ... ORPHA:261222
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Short stature, Proteinuria, Bone-marrow foam ce... OMIM:256550
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Renal insufficiency, Short stature, Bowing of the legs, Delayed epiphyseal oss... OMIM:300554
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis ORPHA:79087
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Renal insufficiency, Proteinuria, Abnormality o... ORPHA:90291
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Galloway-Mowat Syndrome 7
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Short stature, Kyphoscoliosis, Minima... OMIM:618348
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Osteolysis involving tarsal bon... OMIM:166300
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Lumbar hyperlordosis, Postnatal growth retardation, Kyphosis, Hypoplastic iliac wing, Disproporti... OMIM:313400
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Short stature, Proteinuria OMIM:620010
Renal Hypoplasia, Bilateral
Short stature, Small for gestational age, Microscopic hematuria, Proteinuria, Chronic kidney dise... ORPHA:97362
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria OMIM:245900
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Cednik Syndrome
Nephrotic syndrome, Short stature, Proteinuria ORPHA:66631
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Abnormality of the kidney, Proteinuria, Growth delay, Delayed puberty, Failure to ... ORPHA:369
Cernunnos-Xlf Deficiency
Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia ORPHA:169079
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Weight loss, Renal tubul... ORPHA:99885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Majeed Syndrome
Glomerulopathy, Proteinuria, Cachexia, Congenital hypoplastic anemia, Microscopic hematuria, Sple... ORPHA:77297
Amyloidosis, Familial Visceral
Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Immunodeficiency 76
Splenomegaly, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Short stature, Proteinuria, Tapered f... OMIM:617730
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, Aminoaciduria, Glycosuria, ... OMIM:613404
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Clinodactyly, Thrombocytopenia OMIM:603585
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Part... OMIM:616730
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Aminoaciduria, Glycosuria, Tubulointers... OMIM:618913
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Short stature, Abnormal morphology of ulna,... ORPHA:1307
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Thorac... OMIM:223800
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Fanconi Renotubular Syndrome 2
Renal insufficiency, Short stature, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... OMIM:102700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Decreased proportion... OMIM:618048
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia ORPHA:375
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Proteinuria, Aut... ORPHA:1855
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Nail-Patella Syndrome
Renal insufficiency, Lumbar hyperlordosis, Short stature, Glenoid fossa hypoplasia, Proteinuria, ... OMIM:161200
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Hip dislocation, Growth delay, Nephrotic syndrome, ... OMIM:619428
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Abnormal urine p... ORPHA:411634
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, ... OMIM:208500
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Overlapping fingers, T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Micro... OMIM:615966
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia ORPHA:277
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Stage 5 chronic kidney disease, Podocyt... OMIM:619609
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Cystinosis
Renal insufficiency, Short stature, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Delaye... ORPHA:213
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Enlarged kidney, Anemia, Leukopenia, F... OMIM:617303
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Asplenia, Growth delay, Hematuria, Coombs-positive hemolytic anemi... OMIM:614034
Free Sialic Acid Storage Disease
Splenomegaly, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria ORPHA:834
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Sandal gap, Short stature, Proteinuria, Scoliosis ORPHA:2715
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis, Growth delay,... ORPHA:77259
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Short stature, Large for gestational age, Nephrocalcinosis, Amino... OMIM:616026
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... OMIM:227810
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Splenomegaly,... OMIM:619525
Ddost-Cdg
Failure to thrive, Short stature, Nephrotic range proteinuria ORPHA:300536
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... ORPHA:650
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened... OMIM:619487
Donnai-Barrow Syndrome
Wide anterior fontanel, Proteinuria ORPHA:2143
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitia... ORPHA:488627
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Chronic lymphatic leukemia, Growth delay, Increased proportion of tr... OMIM:616005
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Weight loss, Anemia, Hematuria, Thrombocytopenia ORPHA:90060
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Proteinuria, Nephropathy, Nephrotic syndrome, Intrauterin... ORPHA:2065
Nail-Patella Syndrome
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Contracture of... ORPHA:2614
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Sh... OMIM:219800
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Osteootohepatoenteric Syndrome
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral reflux,... OMIM:619377
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Weight loss, Hep... ORPHA:85450
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Growth delay, Mild... OMIM:619147
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Leukopenia, Nephrotic syndrome, Abnormal... ORPHA:93552
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, Radial bowing, B lymphocytopenia, Reduced natural killer ce... OMIM:241600
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Macroscopic hematuria, Obes... ORPHA:251004
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, ... ORPHA:18
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Arachnodactyly, Short stature, Proteinuria, Hip dislocation, Stage 5... OMIM:617729
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... OMIM:308940
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Elliptocytosis, Abnormal metaph... ORPHA:86818
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Ohdo Syndrome
Clinodactyly of the 5th finger, Short stature, Proteinuria OMIM:249620
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic a... ORPHA:508542
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria OMIM:616901
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ... OMIM:309000
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... ORPHA:276621
Activated Pi3K-Delta Syndrome
Splenomegaly, Failure to thrive, B lymphocytopenia ORPHA:397596
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Obesity OMIM:614231
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... OMIM:607426
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria ORPHA:263455
Pseudo-Torch Syndrome 3
Proteinuria, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Abnormal T cell sub... ORPHA:221139
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Scoliosis, Failure to thrive OMIM:610965
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Hemolytic anemia, Myoglobinuria, Acute kidney injury ORPHA:57
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolyt... OMIM:274150
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Proximal placement of thumb, Ectopic kidney, Proteinuria, Hypoplasia ... OMIM:122470
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Bone marrow hypocellu... OMIM:301078
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Anemia OMIM:301500
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, Postnatal grow... OMIM:133540
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Scoliosis OMIM:607155
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Alg12-Cdg
Overlapping fingers, Sandal gap, Hypospadias, Proximal placement of thumb, Long fingers, Short lo... ORPHA:79324
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contract... ORPHA:83617
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Scoliosis, Failure to thrive, Anemia ORPHA:90321
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Short stature, Prote... OMIM:251300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... ORPHA:713
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Tapered finger, Thrombocytopenia, Small hand, Renal h... OMIM:620005
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... ORPHA:2728
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia... ORPHA:505248
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Oculocerebrorenal Syndrome Of Lowe
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Short stature, Multiple rena... ORPHA:534
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo... ORPHA:95455
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Arima Syndrome
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Growth delay, ... OMIM:243910
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... ORPHA:29072
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubuloint... ORPHA:183
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Growth del... ORPHA:264580
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Normochromic... ORPHA:247691
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Wide anterior fontanel, Short sternum, Proteinuria OMIM:222448
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... ORPHA:244242
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Short stature, Proteinuria, Splenomegaly, Kyphosis, Ivory e... OMIM:216400
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Postnatal growth retardation, Splenomegaly, Increased body weight, Renal tubular a... ORPHA:79240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria ORPHA:36412
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... OMIM:602450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... OMIM:300908
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Prea... OMIM:619471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Thrombocytosis, Fail... OMIM:212065
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos... OMIM:232800
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Growth delay, Renal tubular dysfunctio... ORPHA:411629
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Aymé-Gripp Syndrome
Short stature, Rocker bottom foot, Proteinuria, Tapered finger, Postnatal growth retardation, Rad... ORPHA:1272
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Glycogen Storage Disease Ib
Short stature, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Ne... OMIM:232220
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Pearson Syndrome
Reticulocytosis, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Postn... ORPHA:699
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Oroticaciduria, Hepatosplenomegaly, A... ORPHA:470
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Intrauterine growth retardation, Myoglobinuri... ORPHA:71212
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Glycosur... ORPHA:2298
Glycogen Storage Disease Ia
Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, De... OMIM:232200
Cockayne Syndrome
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Cachexia, Un... ORPHA:191
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Decreased glomerular filtration rate, Leukocytosis, Chro... ORPHA:340
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Orofaciodigital Syndrome Type 1
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... ORPHA:2750
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia OMIM:255125
Papa Syndrome
Proteinuria ORPHA:69126
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis ORPHA:254854
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Failure to thrive, Small for gestational age OMIM:609015
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Micropenis OMIM:300519
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... OMIM:277900
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Chronic neutropenia, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis,... ORPHA:79259
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Short stature, Sandal gap, 2-3 t... OMIM:251260
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Fabry Disease
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Abnormal femur morphology, Hemat... ORPHA:324
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Elevated hemoglobin A1c, Sandal gap, Decreased fibular diameter, Postnatal growth ... OMIM:619127
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... OMIM:194380
Melas
Short stature, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy... ORPHA:550
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Glycogen Storage Disease Xii
Normocytic anemia, Short stature, Splenomegaly, Hemoglobinuria, Normochromic anemia, Delayed pube... OMIM:611881
Vater/Vacterl Association
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retard... OMIM:192350
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functional abnormality o... ORPHA:391487
Holoprosencephaly
Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the spleen, Abnorm... ORPHA:2162
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Gaucher Disease Type 3
Pancytopenia, Proteinuria, Splenomegaly, Growth delay, Anemia, Hematuria, Delayed puberty, Thromb... ORPHA:77261
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
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
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, Tubuloint... ORPHA:358
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Orofaciodigital Syndrome I
Syndactyly, Short stature, Proteinuria, Short 2nd toe, Polydactyly, Radial deviation of finger, P... OMIM:311200
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocy... ORPHA:293978
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hematuria, Focal segmental glomeruloscleros... OMIM:232240
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Flexion contracture of finger ORPHA:206549
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney inju... ORPHA:94093
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Hematuria, Chondritis ORPHA:728
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine ORPHA:228305
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Abnormal tubulointerstitial morpholog... ORPHA:904
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, Hematuria, Nephrot... ORPHA:2035
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal neutrophilic tubulitis, Renal interstitial edema, Weight loss, Sterile p... ORPHA:91500
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia ORPHA:536
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Gran... ORPHA:900
Agel Amyloidosis
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Hemoglobinuria, Microangiopathic hemolytic... ORPHA:90038
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Short stature, Absent circulating B cells, Delayed puberty OMIM:307200
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Clinodactyly of the 5th finger, Overlapping toe, Scoliosis, Proteinuria OMIM:616682
Gaucher Disease
Pancytopenia, Short stature, Proteinuria, Splenomegaly, Anemia, Hematuria, Delayed puberty, Throm... ORPHA:355
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury ORPHA:90068
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Leukocytosis, Oliguria, Acute kidney injury, Nephrotic r... ORPHA:544482
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria ORPHA:48435
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Proteinuria, Splenomegaly, Leukocytosis, Hematuria, Leukopenia, Throm... ORPHA:99827
Kawasaki Disease
Leukocytosis, Proteinuria, Sterile pyuria ORPHA:2331
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... OMIM:619381
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Pmm2-Cdg
Proteinuria, Kyphoscoliosis, Long fingers, Nephrotic syndrome, Platyspondyly, Multiple renal cyst... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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