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Gene: Dnase1 MGI:103157

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Gene Summary

Name:
deoxyribonuclease I
Synonyms:
Dnl1,  DNaseI

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
abnormal auditory brainstem response Dnase1tm1.1(KOMP)Vlcg HOM   Early adult 3.73×10-06
abnormal heart morphology Dnase1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Dnase1tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Dnase1tm1.1(KOMP)Vlcg HOM Early adult 0.00
hydrometra Dnase1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal urinary bladder morphology Dnase1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Epididymis  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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.

Adult LacZ

LacZ Images Section

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Dnase1 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 Dnase1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Lupus nephritis, Nephritis, Pericarditis, Sy... OMIM:152700

The table below shows human diseases predicted to be associated to Dnase1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... OMIM:614420
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupus... OMIM:613779
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis OMIM:216950
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... ORPHA:567544
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
C3 Glomerulopathy
Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute... ORPHA:329918
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Lupus nephritis, Nephritis, Pericarditis, Sy... OMIM:152700
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... ORPHA:228302
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal insufficiency, Unilateral renal hypoplasia, Hydronephrosis, Anti-thyro... ORPHA:49041
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ... OMIM:616414
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... OMIM:615559
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis OMIM:613791
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... OMIM:607665
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... ORPHA:444463
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Alopecia Areata 1
Autoimmunity OMIM:104000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:603909
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... OMIM:162000
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Nail-Patella-Like Renal Disease
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria ORPHA:2613
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Elevated circulating creatinine con... ORPHA:275555
Idiopathic Pulmonary Hemosiderosis
Autoimmune antibody positivity, Rheumatoid factor positive, Hepatosplenomegaly, Glomerulonephriti... ORPHA:99931
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Prote... OMIM:608709
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Xanthinuria, Type Ii
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... OMIM:603592
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosi... ORPHA:2137
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplen... OMIM:619858
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo... OMIM:618999
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Nephrotic Syndrome, Type 17
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618176
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... OMIM:609814
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... OMIM:600995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil ... ORPHA:93126
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:228308
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... OMIM:609057
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephronophthisis
Renal insufficiency ORPHA:655
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... OMIM:617056
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... OMIM:608971
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... OMIM:304790
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... OMIM:618594
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Thyrocerebrorenal Syndrome
Thrombocytopenia, Renal insufficiency, Nephritis ORPHA:3327
Diffuse Alveolar Hemorrhage
Autoimmunity, Hematuria, Rheumatoid factor positive, Antiphospholipid antibody positivity, Elevat... ORPHA:90060
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Nephrosialidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome OMIM:256150
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Abnormality of the kidney, Abnormal renal physiology, Pericarditis, System... OMIM:609939
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... ORPHA:567548
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... ORPHA:79233
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Hepatomegaly OMIM:619175
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Pediatric Systemic Lupus Erythematosus
Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Antinuclear a... ORPHA:93552
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... OMIM:105200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... OMIM:619644
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti... ORPHA:90283
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... ORPHA:411536
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Type 1 Diabetes Mellitus
Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Complement Factor I Deficiency
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... OMIM:610984
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Lesch-Nyhan Syndrome
Renal insufficiency, Hyperuricemia, Hematuria ORPHA:510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Arthralgia/arthritis, Autoimmune antibody positivity ORPHA:411593
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b... OMIM:601859
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity ORPHA:46488
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... OMIM:603278
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... ORPHA:37042
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... OMIM:618495
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Ethylene Glycol Poisoning
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, Hyperkalemia,... ORPHA:31826
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Lcat Deficiency
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... ORPHA:650
Immunoglobulin A Deficiency 1
Autoimmunity OMIM:137100
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Thymoma
Anti-acetylcholine receptor antibody positivity, Rheumatoid arthritis, Pure red cell aplasia, Aut... ORPHA:99867
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Immunodeficiency 42
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... OMIM:616622
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
Immunodeficiency 64 With Lymphoproliferation
Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Decreased proportion of CD4-positive... OMIM:618534
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... OMIM:614227
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Trimethylaminuria
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... OMIM:612933
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... OMIM:619220
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Microscopic hematuria ORPHA:79087
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:261670
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Lymphadenopat... OMIM:614034
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis ORPHA:214
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... ORPHA:182050
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... OMIM:614376
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... OMIM:300555
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Acquired Ichthyosis
Renal insufficiency, Autoimmunity ORPHA:454
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Proteinuria, Hematuria ORPHA:2134
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Autoimmunity, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Portal fibro... OMIM:615862
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... OMIM:240500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... OMIM:617514
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormality of somatosen... ORPHA:320401
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... OMIM:256300
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... ORPHA:2364
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid factor positive, Inflammatory abnormality of the skin, Elevated circulating C-reactive... ORPHA:79099
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Lymphadenopathy, Hepatomega... ORPHA:85414
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Secondary Non-Traumatic Avascular Necrosis
Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis ORPHA:399180
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Macrotia OMIM:300886
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... ORPHA:90036
Megabladder, Congenital
Patent ductus arteriosus, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogen... OMIM:618719
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Autoimmunity, Pancytopenia, Autoimmune thrombocyto... OMIM:614470
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis OMIM:278300
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... ORPHA:443811
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Autoimmunity, Recurrent otitis media, Autoimmune hem... OMIM:615387
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, T lymphocytopenia, Inflammatory a... ORPHA:277
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Rheumatoid factor positive, Lymphadenopathy, Increased inflammatory r... OMIM:209950
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Arthritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... ORPHA:63
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria OMIM:619428
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... OMIM:134600
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:28
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... ORPHA:79404
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration ORPHA:225
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... ORPHA:470
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Amyloidosis, Finnish Type
Renal insufficiency, Nephrotic syndrome OMIM:105120
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Drug-Induced Lupus Erythematosus
Malar rash, Hematuria, Autoimmune antibody positivity, Lupus anticoagulant, Elevated circulating ... ORPHA:231111
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomegal... ORPHA:85447
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... ORPHA:91500
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Stage 5 chronic kidney disease, Minimal change glomeruloneph... ORPHA:1830
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Cytoplasmic antineutrophil antibody... ORPHA:48435
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Pemphigus Erythematosus
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... ORPHA:79480
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Renal insufficiency, Renal hypoplasia, Hydronephrosis OMIM:615996
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Nephronophthisis 13
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Intrahepatic bile ... OMIM:614377
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Systemic Sclerosis
Anti-centromere antibody positivity, Osteomyelitis, Acute kidney injury, Arthritis, Abnormality o... ORPHA:90291
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... OMIM:614455
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... OMIM:613388
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency ORPHA:254857
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Renal insufficiency, Nephrotic syndrome, Stage 5 chroni... OMIM:301050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positiv... OMIM:300853
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Familial Reactive Perforating Collagenosis
Chronic kidney disease ORPHA:79147
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly,... OMIM:617713
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Hem... OMIM:300635
Immunodeficiency, Common Variable, 1
Conjunctivitis, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil anti... OMIM:607594
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... OMIM:616733
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... ORPHA:168563
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Renal insufficiency,... ORPHA:411543
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Recurrent urinary tract in... ORPHA:36234
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, EEG abnormality OMIM:614096
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Eczema, L... OMIM:618935
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:100026
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration OMIM:611773
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Isolated Agammaglobulinemia
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Abnormality of t... ORPHA:229717
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, Lymphopenia, Rheumatoid factor posit... OMIM:615816
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... ORPHA:90033
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia ORPHA:2123
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Nephrotic syndrome, Abnormality of the kidney... ORPHA:2035
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Jaundice, Splenic cys... ORPHA:400
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... OMIM:274150
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... OMIM:235400
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... ORPHA:99879
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... OMIM:191800
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis ORPHA:48377
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Diabetes Mellitus, Transient Neonatal, 3
Reduced C-peptide level, Elevated hemoglobin A1c, Anti-glutamic acid decarboxylase antibody posit... OMIM:610582
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Panniculitis, Splenomegaly OMIM:618398
Goodpasture Syndrome
Glomerular crescent formation, Anti-myeloperoxidase antibody positivity, Cytoplasmic antineutroph... OMIM:233450
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Chronic kidney disease, Macros... ORPHA:567546
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... OMIM:613845
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Autoimmune Hemolytic Anemia
Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Unclassified Myelodysplastic Syndrome
Autoimmunity ORPHA:98827
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Sensorineural hearing impairment, Ventricular septal defect, ... OMIM:618652
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Renal insufficiency, Abnorm... OMIM:137940
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Lymphadenopathy,... OMIM:615513
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction ORPHA:289916
Felty Syndrome
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... ORPHA:47612
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Renal insufficiency, Proteinuria OMIM:134610
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Nephritis, Macrov... OMIM:617303
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Alg1-Cdg
Abnormality of the kidney, Renal insufficiency, Hypoalbuminemia, Nephrotic syndrome ORPHA:79327
Frasier Syndrome
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:136680
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmunity, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmu... OMIM:613011
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... ORPHA:251004
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... OMIM:616100
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Perrault Syndrome 6
Streak ovary, Sensorineural hearing impairment, Hypoplasia of the uterus OMIM:617565
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level, Autoimmunity ORPHA:293964
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Omenn Syndrome
Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Lymphadenopathy, Eosinophili... ORPHA:39041
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Chr... ORPHA:261222
Frasier Syndrome
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... ORPHA:347
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... OMIM:300554
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Perinuclear antineutrophil ant... OMIM:618394
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Leukocyto... OMIM:611762
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis, Hepatomegaly, Splenomegaly ORPHA:33577
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro... OMIM:613101
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Retinitis Pigmentosa 59
Renal insufficiency, Micropenis OMIM:613861
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... ORPHA:439232
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... ORPHA:99845
Purine Nucleoside Phosphorylase Deficiency