Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 5.11×10-06

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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 0.53% (3 of 571)
aorta 0.18% (1 of 564)
blood vessel 0.0%
bone 0.0%
brain 0.71% (4 of 562)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 562)
cerebellum 0.53% (3 of 571)
cerebral cortex 0.35% (2 of 570)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 570)
hippocampus 0.52% (3 of 573)
hypothalamus 0.35% (2 of 568)
kidney 3.55% (20 of 563)
large intestine 1.59% (9 of 566)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.18% (1 of 563)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 570)
ovary 0.0%
oviduct 0.0%
pancreas 0.88% (5 of 568)
parathyroid gland 0.19% (1 of 538)
peripheral nervous system 0.35% (2 of 566)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 563)
prostate gland 2.1% (12 of 572)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 570)
small intestine 1.59% (9 of 567)
spinal cord 0.35% (2 of 569)
spleen 0.53% (3 of 564)
stomach 2.13% (12 of 564)
striatum 0.35% (2 of 571)
testis 1.07% (6 of 563)
thymus 0.17% (1 of 573)
thyroid gland 2.99% (17 of 568)
trachea 0.52% (3 of 572)
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

5 Images

Legacy Phenotype Associated Images

View all 73 images

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.

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
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... 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
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... OMIM:618728
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
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
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Proteinuria, Nephropathy, Severe short stature ORPHA:2820
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Galactosur... OMIM:230400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Avascular necrosis of the capi... OMIM:611555
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria, Intrauterine growth retardation OMIM:189800
Nail-Patella-Like Renal Disease
Short stature, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Short stature, Stage 5 chronic kidney disease, Steroid-resist... OMIM:618176
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Growth delay, Proportionate short stature, Platyspondyly, S... OMIM:619269
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... OMIM:617006
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Bowing of the legs, Glycosuria, Aminoaciduria, Pr... OMIM:615605
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Galloway-Mowat Syndrome 2, X-Linked
Intrauterine growth retardation, Minimal change glomerulonephritis, Nephrotic syndrome, Short sta... OMIM:301006
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Intrauterine growth ... OMIM:242900
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Increased body mass index, Acute kidn... ORPHA:275555
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Dent Disease 1
Short stature, Metaphyseal irregularity, Microscopic hematuria, Femoral bowing, Chronic kidney di... OMIM:300009
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Short stature, Microscopic hematuria, Sha... ORPHA:1830
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Metatarsus adductus, Hydronephrosis, Rocker bottom foot, Epiphyseal stippling, Failu... OMIM:214100
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Hammertoe, Stage 5 chronic kidney disease, Split hand, Protei... OMIM:614455
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Osteolysis involving tarsal bones, Nephropathy, Car... OMIM:166300
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Galloway-Mowat Syndrome 6
Short stature, Nephrotic syndrome, Clinodactyly of the 5th finger, Decreased body weight, Protein... OMIM:618347
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Abnormality of epiphysis morphology, Metacarpal osteolysis, Slender long bone, Nephropa... ORPHA:2774
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Al Amyloidosis
Nephrotic syndrome, Weight loss, Anemia, Renal interstitial amyloid deposits, Albuminuria, Howell... ORPHA:85443
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Weight loss, Anemia, Splenomegaly, Nephropathy ORPHA:100024
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Short stature, Anemia, Hyperlordosis, Nephropathy, Proteinuria ORPHA:1192
Dyschondrosteosis-Nephritis Syndrome
Mesomelic short stature, Radial bowing, Intrauterine growth retardation, Short stature, Hematuria... ORPHA:1765
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Short stature, Metaphy... OMIM:614376
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Small for gestational age, Nephrotic syndrome,... OMIM:215250
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Tibial bowing, Fibular bowing, Short stature, Nephrocalcinosis, Bowing of the leg... OMIM:300554
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Dent Disease
Tubulointerstitial fibrosis, Metaphyseal irregularity, Non-acidotic proximal tubulopathy, Hyperur... ORPHA:1652
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Lymphocytosis, Proteinuria ORPHA:79087
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Arachnodactyly, Kyphosis, Vesicoureteral reflux, Chronic kidney disease, Obesity,... ORPHA:261222
Neuraminidase Deficiency
Short stature, Epiphyseal stippling, Vacuolated lymphocytes, Urinary excretion of sialylated olig... OMIM:256550
Saul-Wilson Syndrome
Neutropenia, Intrauterine growth retardation, Short stature, Short metatarsal, Platyspondyly, Sho... OMIM:618150
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Hallux valgus, Focal segmental glomerulosclerosis, Minimal change glomerul... OMIM:618348
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... ORPHA:567544
Xfe Progeroid Syndrome
Cachexia, Severe short stature, Scoliosis, Proteinuria, Renal insufficiency OMIM:610965
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Acute kidney injury, Albuminuria, Finger swelli... ORPHA:90291
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Metaphyseal dysplasia, Intrauterine growth retardation, Epiphyseal dysplasia, Microp... OMIM:614732
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... ORPHA:99885
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria OMIM:245900
Cednik Syndrome
Proteinuria, Short stature, Nephrotic syndrome ORPHA:66631
Ohdo Syndrome
Clinodactyly of the 5th finger, Proteinuria, Short stature OMIM:249620
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Short stature, Failure to thrive, Delayed puberty, Proteinuria, Abnormality of the ... ORPHA:369
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Failure to thrive, Abnormality of pelvic girdle bone morphology, Reduced red c... OMIM:102700
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Tapered finger, Short stature, Glomerular sclerosis, Stage 5 chronic kidney d... OMIM:617730
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Congenital hypoplastic ... ORPHA:77297
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Immunodeficiency 76
B lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Three M Syndrome 1
Hypospadias, Intrauterine growth retardation, Growth delay, Small for gestational age, Short stat... OMIM:273750
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... ORPHA:567546
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Genu valgum, Aminoacidur... OMIM:618913
Dent Disease 2
Short stature, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic ... OMIM:300555
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn... ORPHA:93101
Dyggve-Melchior-Clausen Disease
Genu varum, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening, Iliac crest serrati... OMIM:223800
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Proteinuria, Thrombocytopenia, Aminoaciduria, Macrothrombocytopenia, Clinodactyly OMIM:603585
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Short stature, Aplasia/Hypoplasia o... ORPHA:1307
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Failure to thrive, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidney... OMIM:613845
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Short stature, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria,... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Short stature, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoa... OMIM:616026
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Nephrolithiasis, Hip dysplasia, Postnatal growth retardation, Vesicoureteral refl... OMIM:617219
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Short stature, Bowing of the legs, Chronic kidney disease, H... ORPHA:1855
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Growth delay, Small for gestational age, Congenital nephrotic syndrome, Gl... OMIM:256300
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Omenn Syndrome
B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B ly... OMIM:603554
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Nephrotic syndrome, Iliac horns, Short stature, Hematu... OMIM:161200
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Growth delay, Failure to thrive, Proximal tubulopathy, Abnormality of lon... ORPHA:411634
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Small epiphyses, Hypoplastic iliac wing, Tapered metacarpals, Tapered phalanx of finger, Short ph... OMIM:611717
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Short stature, Hypoplastic ... OMIM:208500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Stage 5 chronic kidney disease, Arachnodactyly, Diffuse mesangi... OMIM:619609
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia, Nephrotic syn... OMIM:617303
Cystinosis
Renal tubular dysfunction, Short stature, Failure to thrive, Nephropathy, Aminoaciduria, Proteinu... ORPHA:213
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, ... OMIM:210720
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Heme Oxygenase 1 Deficiency
Thrombocytosis, Growth delay, Asplenia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, P... OMIM:614034
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Anemia, Renal insufficiency ORPHA:2668
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612926
Gaucher Disease Type 1
Growth delay, Leukopenia, Hematuria, Anemia, Splenomegaly, Kyphosis, Hypersplenism, Vertebral com... ORPHA:77259
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Failure to thrive, Anemia, Splenomegaly, Microscopic hematuria, Microcytic ... OMIM:619525
Severe Oculo-Renal-Cerebellar Syndrome
Short stature, Sandal gap, Scoliosis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2715
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Growth delay, Nephrotic syndrome, Glomerular sclerosis, Hip dislocation, Glomerulone... OMIM:619428
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Anemia, ... OMIM:220110
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Weight loss, Anemia, Glomerular sclerosis, St... OMIM:619487
Nephronophthisis 13
Renal hypoplasia, Polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glycosuria, Hip dislocat... OMIM:210550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Anemia, ... ORPHA:436271
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... ORPHA:85445
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Failure to thrive, Hematuria, Megaloblasti... OMIM:277400
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... ORPHA:488627
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Short stature ORPHA:300536
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Weight loss, Anemia, Thrombocytopenia, Proteinuria ORPHA:90060
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Nephrotic syndrome, Short stature, Failure to thrive, Glomerular... OMIM:617729
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Failure to thrive, Avascular necrosis of the capital femoral epip... OMIM:619377
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Donnai-Barrow Syndrome
Wide anterior fontanel, Proteinuria ORPHA:2143
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Tapered finger, Abnormality of the metaphysis, Microscopic hematuria, Glomerulopathy, Proteinuria... ORPHA:86818
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Small for gestational age, Growth delay, Failure to t... OMIM:619147
Pediatric Systemic Lupus Erythematosus
Leukopenia, Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary sys... ORPHA:93552
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Bicarbonate-wasting renal tu... ORPHA:47159
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Failure to thrive, Proximal tu... ORPHA:18
Galloway-Mowat Syndrome
Intrauterine growth retardation, Adducted thumb, Nephrotic syndrome, Short stature, Nephropathy, ... ORPHA:2065
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... ORPHA:85450
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Short stature, Episodic hemolytic anemia, Membranoproliferative glomerulon... ORPHA:251004
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Nail-Patella Syndrome
Abnormality of tibia morphology, Patellar aplasia, Abnormality of femur morphology, Nephrotic syn... ORPHA:2614
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... OMIM:308940
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Short stature, Failure to thrive, Proximal renal tubul... OMIM:309000
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Cl... OMIM:614700
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Short stature, Bone marrow hypocellularity, Anemia, S... ORPHA:508542
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Proteinuria, Nephrotic syndrome, Splenomegaly ORPHA:834
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Wild Type Attr Amyloidosis
Nephrotic syndrome, Weight loss, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Cystinosis, Nephropathic
Renal Fanconi syndrome, Failure to thrive in infancy, Generalized aminoaciduria, Growth delay, Sh... OMIM:219800
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Protein... OMIM:277900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary epinephrine, Hematuria, Weight loss, Glomerular sclerosis, Elevated urinary nore... ORPHA:276621
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis OMIM:134610
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Cone-shaped epiphysis, Clinodactyly of the 3rd finger, Short distal phalanx of... ORPHA:221139
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Glycosuria, Large for gestational age, Proteinuria, Increased body weight ORPHA:263455
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hemolytic anemia, Growth delay ORPHA:57
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... ORPHA:2728
Fabry Disease
Lipiduria, Anemia, Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty OMIM:301500
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... ORPHA:347
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Cockayne Syndrome B
Intrauterine growth retardation, Small for gestational age, Hypoplastic iliac wing, Ivory epiphys... OMIM:133540
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Nephrotic syndrome, Failure to thrive, Proximal tubulopathy, Renal cyst, Kyphosis... OMIM:212065
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Cornelia De Lange Syndrome 1
Hypospadias, Renal hypoplasia, 2-3 toe syndactyly, Hand oligodactyly, Intrauterine growth retarda... OMIM:122470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Bone marrow hypocellularity, Lumbar hy... ORPHA:505248
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Legionnaires Disease
Hematuria, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Proteinuria, Renal insufficiency ORPHA:549
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Weight loss, Nephritis, Mesangial hypercellularit... ORPHA:91139
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Alg12-Cdg
Hypospadias, B lymphocytopenia, Intrauterine growth retardation, Failure to thrive, Long fingers,... ORPHA:79324
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Cockayne Syndrome Type 1
Failure to thrive, Anemia, Postnatal growth retardation, Scoliosis, Proteinuria, Renal insufficiency ORPHA:90321
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Hematuria, Weight loss, Glomerulopathy, Eosinophilia, Proteinuria, ... ORPHA:183
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Nephrotic syndrome, Small fo... OMIM:251300
Cryoglobulinemic Vasculitis
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:91138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Growth delay, Short stature, Failure to thrive, Renal tubular acidosis, Anemia, In... ORPHA:264580
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4+CD... OMIM:606367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria OMIM:123550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Avascular necrosis of the capital femoral epiphysis, Glom... ORPHA:247691
Oculocerebrorenal Syndrome Of Lowe
Short stature, Proximal renal tubular acidosis, Oligosacchariduria, Hypercalciuria, Nephrocalcino... ORPHA:534
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Chronic kidney disease, Recurren... ORPHA:368
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Weight loss, Glomerular sclerosis,... ORPHA:29072
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Short stature, Renal tubular acidosis, Anemia, Splenomegaly, Postnatal growth reta... ORPHA:79240
Hypocomplementemic Urticarial Vasculitis
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:36412
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Arachnodac... ORPHA:83617
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Growth delay,... OMIM:616084
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Neutropenia, Hematuria, Dysuria, Anemia, Acute k... ORPHA:95455
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Exer... OMIM:232800
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial polydactyly, Micropenis, Postaxial hand polydactyly, Obesity, Prote... OMIM:619471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Hellp Syndrome
Hemoglobinuria, Microangiopathic hemolytic anemia, Increased body weight, Acute kidney injury, Pr... ORPHA:244242
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Neutropenia, Short stature, Decreased glomerular filtration r... OMIM:232220
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Growth delay, Failure to th... ORPHA:411629
Aymé-Gripp Syndrome
Rocker bottom foot, Tapered finger, Short stature, Postnatal growth retardation, Camptodactyly, C... ORPHA:1272
Renal Nutcracker Syndrome
Hematuria, Weight loss, Anemia, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Cockayne Syndrome A
Intrauterine growth retardation, Severe postnatal growth retardation, Hypoplastic iliac wing, Ivo... OMIM:216400
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Donnai-Barrow Syndrome
Wide anterior fontanel, Low-molecular-weight proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Pearson Syndrome
Neutropenia, Growth delay, Small for gestational age, Lacticaciduria, Anemia, Bone marrow hypocel... ORPHA:699
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Weight loss, Nephritis, Glycosuria, Thrombocytopenia, Dec... ORPHA:2298
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Myoglobinuria, Growth delay, Failure to thrive, Renal tubular acidosis, Splenomegaly, Delayed pub... ORPHA:370
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Anemia, Pancytopenia, Recurrent myoglobinuria OMIM:607426
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Hemoglobinuria, Leukopenia, Erythroid hyperplasia, Chronic kidney disease... ORPHA:447
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Hematuria, Weight loss, Stage 5 chronic kidney disease, Nephropathy, Chronic k... ORPHA:1018
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Proportionate short stature, D... ORPHA:71212
Cockayne Syndrome
Renal hypoplasia, Cachexia, Growth delay, Nephrotic syndrome, Abnormality of epiphysis morphology... ORPHA:191
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Orofaciodigital Syndrome I
Polydactyly, Short stature, Abnormality of toe, Radial deviation of finger, Polycystic kidney dys... OMIM:311200
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Proteinuria ORPHA:69126
Martin-Probst Syndrome
Short stature, Chordee, Micropenis, Pancytopenia, Proteinuria, Renal insufficiency OMIM:300519
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... ORPHA:340
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Leukopenia, Failure to thrive, Ornithinuria, Decrea... ORPHA:470
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine OMIM:171420
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Hydronephrosis, Cone-shaped epiphysis, Short toe, Finger syndactyly, Foot poly... ORPHA:2750
Pure Mitochondrial Myopathy
Scoliosis, Lumbar hyperlordosis, Recurrent myoglobinuria ORPHA:254854
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Myoglobinuria, Small for gestational age OMIM:609015
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... ORPHA:99845
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Short stature, Decreased glomerular filtration rate, Nephroli... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Growth delay, Short stature, Nephrocalcinosis, Abnormal myeloid leukocyte mo... ORPHA:79259
Melas
Focal segmental glomerulosclerosis, Short stature, Failure to thrive, Proximal tubulopathy, Anemi... ORPHA:550
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocy... ORPHA:293978
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Short stature, Decreased fibular diameter, Dysplasia of the f... OMIM:619127
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Hemoglobinuria, Splenomegaly, Exercise-induced hemo... OMIM:194380
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Sideroblastic anemia OMIM:255125
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Holoprosencephaly
Abnormality of the spleen, Failure to thrive in infancy, Hypoplasia of penis, Abnormality of the ... ORPHA:2162
Gaucher Disease Type 3
Growth delay, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Delay... ORPHA:77261
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Glomerulopat... ORPHA:33001
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Nephritis, Bone marrow hypocel... ORPHA:2442
Fabry Disease
Abnormality of femur morphology, Nephrotic syndrome, Short stature, Hematuria, Anemia, Abnormal r... ORPHA:324
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Vater/Vacterl Association
Hypospadias, Patent urachus, Hydronephrosis, Renal agenesis, Triphalangeal thumb, Intrauterine gr... OMIM:192350
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Chr... ORPHA:439232
Nijmegen Breakage Syndrome
B lymphocytopenia, Hydronephrosis, Intrauterine growth retardation, Short stature, Recurrent urin... OMIM:251260
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
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
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Iron de... ORPHA:358
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Growth delay, Short stature, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... ORPHA:411709
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... OMIM:137920
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:728
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Myoglobinuria, Urinary incontinence, Acute kidney injury, Thrombocy... ORPHA:94093
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... ORPHA:157
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Malakoplakia
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria ORPHA:556
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Myoglobinuria ORPHA:228305
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Williams Syndrome
Hallux valgus, Short stature, Abnormal form of the vertebral bodies, Abnormality of pelvic girdle... ORPHA:904
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Dicarboxyli... ORPHA:228308
Lymphatic Filariasis
Nephrotic syndrome, Hematuria, Urethral obstruction, Hypereosinophilia, Glomerulonephritis, Prote... ORPHA:2035
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology ORPHA:85448
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Acute ki... ORPHA:90038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria OMIM:201475
Granulomatosis With Polyangiitis
Hydronephrosis, Hematuria, Weight loss, Ureteral stenosis, Glomerulopathy, Granulomatosis, Protei... ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephr... ORPHA:91500
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hematuria, Decreased glomerular filtration rate, Proteinuria,... OMIM:232240
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Short stature, Delayed puberty, Absent circulating B cells OMIM:307200
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:609049
Goodpasture Syndrome
Macroscopic hematuria, Weight loss, Anemia, Cylindruria, Erythrocyte cylindruria, Glomerulonephri... OMIM:233450
Gaucher Disease
Short stature, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Dela... ORPHA:355
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Cocaine Intoxication
Tubulointerstitial nephritis, Hematuria, Acute kidney injury, Glomerulonephritis, Proteinuria ORPHA:90068
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephr... ORPHA:544482
Familial Mediterranean Fever
Nephrotic syndrome, Nephrocalcinosis, Splenomegaly, Nephropathy, Proteinuria ORPHA:342
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency ORPHA:761
Postinfectious Vasculitis
Weight loss, Hematuria, Membranoproliferative glomerulonephritis, Glomerulonephritis, Proteinuria ORPHA:48435
Acquired Generalized Lipodystrophy
Proteinuria ORPHA:79086
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Hematuria, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia, ... ORPHA:99827
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Kawasaki Disease
Sterile pyuria, Leukocytosis, Proteinuria ORPHA:2331
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Weight loss, Anemia, Splenomegaly, Redu... OMIM:619381
Pmm2-Cdg
Nephrotic syndrome, Failure to thrive, Long fingers, Kyphoscoliosis, Platyspondyly, Abnormal rena... 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)