Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
basigin
Synonyms:
EMMPRIN,  gp 42,  neurothelin,  CD147,  HT-7,  5A11/Basigin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bsg 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Young Syndrome
Obstructive azoospermia, Recurrent bronchitis, Recurrent sinopulmonary infections, Decreased fert... ORPHA:3471
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Nephrotic syndrome, Recurrent pneumonia, Systemic lupus erythematosus, Mem... OMIM:613779
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, C3 nephritic factor positivity, Glomerular subendothelial electron-dense dep... ORPHA:54370
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antibody... OMIM:619375
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Microcephalic sperm head, Abnorma... OMIM:301101
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Young Syndrome
Azoospermia, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopulmon... OMIM:279000
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, C3 nephritic facto... ORPHA:329918
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Bardet-Biedl Syndrome 16
External genital hypoplasia, Recurrent otitis media, Recurrent respiratory infections, Respirator... OMIM:615993
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Arthritis, Crescentic glomerulonephritis, ... OMIM:616414
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Complement Component 4A Deficiency
Systemic lupus erythematosus, Glomerulonephritis OMIM:614380
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve... OMIM:619611
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase... OMIM:230400
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Ascites, Splenomegaly, Diffuse hepa... ORPHA:2137
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Hepatic steatosis OMIM:615703
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Prot... OMIM:603278
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Dyspnea, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial ... ORPHA:133
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Splenomegaly, Amenorrhea, Hypogonad... OMIM:602390
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated... ORPHA:449395
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Autoimmunity, Hepatic steatosis ORPHA:79087
Deleted in azoospermia
Azoospermia OMIM:400003
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Reduced pr... OMIM:620356
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Pneumocystosis
Chronic oral candidiasis, Exertional dyspnea, Acute infectious pneumonia, Pleural effusion, Dyspn... ORPHA:723
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidos... OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increas... OMIM:304790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory infe... OMIM:618495
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Dys... ORPHA:139402
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Pancreatitis, Decreased glome... ORPHA:93126
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Aspiration pneumonia, Respiratory distress ORPHA:141152
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei... OMIM:619644
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Lymphopenia, Splenomegaly, ... ORPHA:444463
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration... OMIM:614376
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Stt3B-Cdg
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Small scrotum, Crypto... ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Small scrotum, Crypto... OMIM:615597
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M... ORPHA:567546
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, Hypocalcemi... ORPHA:37042
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Elevated cir... ORPHA:49041
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ... OMIM:614455
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Imerslund-Grasbeck Syndrome 2
Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc... OMIM:618882
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
48,Xxyy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadi... ORPHA:10
47,Xyy Syndrome
Congenital stationary night blindness, Male infertility, Hypospadias, Increased serum testosteron... ORPHA:8
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Pleural Mesothelioma
Hepatomegaly, Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung morphology, Weight l... ORPHA:50251
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Lymphadenopa... ORPHA:100024
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Anti-smooth muscle antibody positivity, Increased circulating IgG level, Nephritis,... OMIM:603909
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:618449
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Eczematoid dermatitis, He... OMIM:615952
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... ORPHA:470
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleuritis, Ar... ORPHA:829
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... ORPHA:99867
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Renal Dysplasia
Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco... ORPHA:93108
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency ORPHA:375
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Anti-smooth muscle antibody positivity, Increased circulating IgG level, Antinuclea... OMIM:601859
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator... OMIM:300991
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
48,Xyyy Syndrome
Azoospermia, Acne, Primary gonadal insufficiency, Male hypogonadism, Recurrent upper respiratory ... ORPHA:99329
Trimethylaminuria
Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Ulcer... OMIM:614878
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism ORPHA:3000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Simple Cryoglobulinemia
Abnormality of the kidney, Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Mo... ORPHA:91139
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive... ORPHA:90060
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Male infertili... OMIM:612444
Galactosemia Iii
Hepatomegaly, Jaundice, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Chroni... OMIM:608971
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, L... OMIM:614034
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Azoospermia, Infertility, Chronic rhinitis, Chronic sinusitis OMIM:618300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Splenomegaly, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Systemic Sclerosis
Anti-RNA-polymerase-III-autoantibody positivity, Abnormality of the kidney, Acute kidney injury, ... ORPHA:90291
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Absent inne... OMIM:618801
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Jaundice, Increased circulating antibody level, Abnormal... ORPHA:400
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,... OMIM:232220
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Mercury Poisoning
Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Al Amyloidosis
Renal interstitial amyloid deposits, Abnormality of the kidney, Hepatomegaly, Anemia, Increased c... ORPHA:85443
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Macrosc... ORPHA:251004
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Respiratory distress, Facial diplegia, Hypogonadism, Testicular... OMIM:160900
Systemic Lupus Erythematosus
Cheilitis, Hematuria, Lymphadenopathy, Pyuria, Anti-U1 ribonucleoprotein antibody positivity, Mal... ORPHA:536
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Infertility, Sinusitis, Otitis media, Bronchiectasis, Recurrent respiratory... OMIM:606763
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Chronic rhinitis, Abnormal respiratory motile cilium ... ORPHA:922
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly ORPHA:231154
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle... ORPHA:93552
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... OMIM:617091
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn... ORPHA:2035
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia... OMIM:614470
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, Decreased circulating antibody level, T lymp... OMIM:617514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Respiratory distress, Cerebellar atrophy, Hypothyroidism, Cerebral c... ORPHA:254913
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... OMIM:619466
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Hypospadias, Respiratory distress OMIM:300934
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Recurr... OMIM:613807
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator... OMIM:620197
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr... OMIM:215250
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper respirat... OMIM:263000
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Dyspnea, Hepatic necrosis, Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
8P11.2 Deletion Syndrome
Retinal dystrophy, Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary ax... ORPHA:251066
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria ORPHA:882
Immunodeficiency, Common Variable, 2
Hepatomegaly, Decreased circulating total IgM, Lymphadenopathy, Recurrent otitis media, Partial a... OMIM:240500
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, External genital hypoplasia, Elevated circulating hepatic transaminase concentrati... ORPHA:329178
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Atelectasis, Hypospadias, Respiratory distress, Glandular hypospadias,... OMIM:300219
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I... ORPHA:36234
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Hypophosphatemic ricke... OMIM:276700
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Enterocolitis, Focal segmental glomerulosclerosis OMIM:620425
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
48,Xxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, O... ORPHA:96263
Postinfectious Vasculitis
Gastrointestinal inflammation, Pneumonia, Hematuria, Increased circulating antibody level, Elevat... ORPHA:48435
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi... ORPHA:244
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,... OMIM:232200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Brucellosis
Granuloma, Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... ORPHA:1304
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy... ORPHA:275555
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Megaloblastic anemia, Proteinuria OMIM:261100
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Respiratory distress, Retinal detachment, Failure to thriv... OMIM:607143
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis... OMIM:614874
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:251300
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hepatic steatosis, Respiratory distress ORPHA:26792
Interstitial Lung Disease 2
Cirrhosis, Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:178500
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Central apnea, Respiratory distress, Pulmonary sequestration, Dyspnea, Ab... ORPHA:70589
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Mogs-Cdg
Optic atrophy, Pulmonary edema, Hypoventilation, External genital hypoplasia, Hepatomegaly, Respi... ORPHA:79330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly, Hypogonadism OMIM:615234
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Female infertility, Chronic rhinitis OMIM:617577
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, An... ORPHA:277
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Inflammatory abnormality of the eye, Ar... ORPHA:36412
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology, Resp... ORPHA:1145
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Arthritis, Viral hepatitis,... ORPHA:91138
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
49,Xxxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, T... ORPHA:96264
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm motility, Bronchi... OMIM:619436
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Perching Syndrome
Rod-cone dystrophy, Respiratory distress OMIM:617055
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen c... ORPHA:369
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Vaginal dryness, Arteritis, Abnormality of the periph... ORPHA:289390
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy... OMIM:256550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Acne, Leukocytosis, Synovitis, Micro... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Respiratory distress, Elevated circulating alanine aminotransferase con... OMIM:616974
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Elevated circulating long chain fatty... OMIM:214100
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci... OMIM:618886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Anemi... ORPHA:85450
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Rhe... ORPHA:79128
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Hepatomegaly, Jaundice, Giant cell hepatitis, Renal tubular acidosis, ... OMIM:613404
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Neonatal death, Eczematoid dermatitis OMIM:619751
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Anemia, Glomerular crescent formation, Cyl... OMIM:233450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Failure to thrive, Recurren... ORPHA:60032
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmunity, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Bloom Syndrome
Azoospermia, Malar rash, Type II diabetes mellitus, Recurrent upper respiratory tract infections,... OMIM:210900
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomega... OMIM:618963
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respira... OMIM:613561
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, ... OMIM:615482
H Syndrome
Delayed puberty, Recurrent pharyngitis, Azoospermia, Chronic rhinitis, Decreased testicular size,... ORPHA:168569
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Moebius Syndrome
Respiratory distress, Facial diplegia, Decreased testicular size, Micropenis, Hypogonadotropic hy... OMIM:157900
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Cheilitis, Azoospermia, Bronchitis, Skin rash,... ORPHA:125
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Red... OMIM:615500
Cryptococcosis
Pneumonia, Prostatitis, Cirrhosis, Respiratory distress, Abnormal cranial nerve morphology, Pleur... ORPHA:1546
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurren... OMIM:614935
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Arthritis, Infertility, Decreased libido, Testicul... ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:608799
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran... OMIM:137940
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Enterocoliti... OMIM:301108
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Clitoral hypertrophy, Respiratory distress, Dyspnea, Abnormal optic nerve morpholo... ORPHA:2707
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody l... OMIM:613101
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypopho... OMIM:616026
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid... OMIM:609049
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea OMIM:267450
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364