banner
Genes Phenotypes Help, News, Blog

Gene: Cfh MGI:88385

Log in to follow

Gene Summary

Name:
complement component factor h
Synonyms:
Sas-1,  Mud-1,  Sas1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Cfhtm1a(EUCOMM)Wtsi HOM Early adult 9.99×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Histopathology

Images

2 Images

View images
Legacy Phenotype Associated Images
Cfhtm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Cfhtm1a(EUCOMM)Wtsi
WT, Male, WTSI
Cfhtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cfhtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cfhtm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI

View all 100 images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Basal Laminar Drusen
Drusen, Progressive visual loss OMIM:126700
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Acute kidney injury, Decreased mean corpuscu... ORPHA:244242
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Purpura, R... OMIM:235400

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Abnorma... ORPHA:567544
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Colitis, Nephrotic syndrome, Minimal change glomer... OMIM:617006
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Nephrotic syndrome OMIM:613913
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Visual impairment, Bone spicule pigmen... OMIM:613809
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Visual impairment, Optic... OMIM:607921
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Progressive Cone Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment ORPHA:1871
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial atrophy, Myopia, Retinal pigment ep... OMIM:304020
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:618348
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Achromatopsia
Abnormal macular morphology, Photophobia, Reduced visual acuity, Attenuation of retinal blood ves... ORPHA:49382
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Retinitis Pigmentosa 46
Abnormality of retinal pigmentation, Attenuation of retinal blood vessels, Constriction of periph... OMIM:612572
Blue Cone Monochromatism
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Blue cone monochromacy ORPHA:16
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Glo... OMIM:607665
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Myopia, Visual impairment ORPHA:1574
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Retinitis Pigmentosa 76
Nyctalopia, Reduced visual acuity, Cystoid macular edema, Retinal thinning, Constriction of perip... OMIM:617123
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, High hypermetropia ORPHA:35612
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Hydroxyprolinemia
Microscopic hematuria, Hydroxyprolinemia OMIM:237000
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Progressive visual loss, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 69
Rod-cone dystrophy, Abnormality of retinal pigmentation, Constriction of peripheral visual field,... OMIM:615780
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Abnormal ... ORPHA:827
Cone-Rod Dystrophy 16
Macular atrophy, Nyctalopia, Beaten bronze macular sheen, Reduced visual acuity, Attenuation of r... OMIM:614500
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:1178
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Myopia, Visual impairment, Chorioretinal dystrophy ORPHA:75373
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Nephrotic syndrome, Proteinuria OMIM:105200
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:2246
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Retinal nonattachment, Abnormality of vi... ORPHA:99000
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visu... OMIM:611040
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Elevated circulating C-reactive protei... OMIM:616414
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Retinal Cone Dystrophy 1
Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visual loss, Phot... OMIM:180020
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Blindness, Optic atrophy, Retinopathy OMIM:610951
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Usher Syndrome, Type Iv
Nyctalopia, Retinal atrophy, Retinal degeneration, Ring scotoma, Constriction of peripheral visua... OMIM:618144
Central Retinal Vein Occlusion
Visual loss, Pigmentary retinopathy, Papilledema, Cystoid macular edema, Blurred vision, Epiretin... ORPHA:411527
Cone-Rod Dystrophy 3
Visual loss, Pigmentary retinopathy, Attenuation of retinal blood vessels, Central scotoma, Color... OMIM:604116
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cystoid macular edema, B... OMIM:618826
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Visual impairment OMIM:614307
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Visual loss, Macular ... ORPHA:179
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Visual impairment, Retinal degeneration OMIM:618513
Galactosemia I
Increased level of galactitol in red blood cells, Albuminuria, Increased level of galactitol in p... OMIM:230400
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy, Hyp... OMIM:172870
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Vitreous hemorrhage, Retinal pigment epithelial atrophy, Mizuo ... OMIM:312700
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia ORPHA:510
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Myopia, Retinal detachment, Visual impairment, Chorioretinal dystrophy OMIM:600790
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Reduced visual acuity, Retinal exudate, Retinal detach... OMIM:605750
Pierson Syndrome
Hypoproteinemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis,... OMIM:609049
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Peripheral Cone Dystrophy
Paracentral scotoma, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Visual impairment,... OMIM:609021
Cone-Rod Dystrophy 5
Reduced visual acuity, Color vision defect, Cone/cone-rod dystrophy, Photophobia, Macular degener... OMIM:600977
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... ORPHA:93126
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Chorioretinal atrophy, Retina... OMIM:120970
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Retinal degeneration, Reduced visual acuity OMIM:617879
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Alport Syndrome 2, Autosomal Recessive
Hematuria, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Stag... OMIM:203780
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Chorioretinal atrophy, Nummular pigmentation of the fundus, Peripheral vi... OMIM:618697
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Visual loss, Cone dystrophy, Retinal detachment OMIM:304030
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Retinitis Pigmentosa 13
Nyctalopia, Cystoid macular edema, Retinal degeneration, Hypopigmentation of the fundus, Constric... OMIM:600059
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Alport Syndrome
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Tubulointerstitial fibro... ORPHA:63
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Bornholm Eye Disease
Protanopia, Abnormality of retinal pigmentation, Amblyopia, High myopia, Optic nerve hypoplasia, ... OMIM:300843
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Nephroblastoma, Stage 5 chronic kidney disease, ... OMIM:194080
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:136680
Lcat Deficiency
Renal insufficiency, Hematuria, Hypertriglyceridemia, Proteinuria ORPHA:650
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Myopia, Posterior vitreous detachment, Progre... OMIM:616468
Cone-Rod Dystrophy 13
Reduced visual acuity, Color vision defect, Cone/cone-rod dystrophy, Visual impairment, Photophob... OMIM:608194
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Interstitial pneu... ORPHA:449395
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Visual loss, Visual field defect, Chorioretinal atrophy, Myopia, Per... OMIM:143200
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Recurrent urin... OMIM:615559
Retinitis Pigmentosa Inversa With Deafness
Blindness, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Color vision defect, Cone/c... OMIM:300476
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Ceroid Lipofuscinosis, Neuronal, 6
Progressive visual loss, Retinal degeneration OMIM:601780
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Cone-Rod Dystrophy 11
Macular atrophy, Photophobia, Cone/cone-rod dystrophy, Slow decrease in visual acuity, Bull's eye... OMIM:610381
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmen... OMIM:136550
Retinitis Pigmentosa 86
Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retina... OMIM:618613
Retinitis Pigmentosa 50
Nyctalopia, Retinal flecks, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal ... OMIM:613194
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Cone-Rod Dystrophy 8
Nyctalopia, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Blindness, Abnormality ... OMIM:605549
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Retinitis Pigmentosa 38
Macular atrophy, Nyctalopia, Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystro... OMIM:613862
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria ORPHA:284400
Diprosopus
Abnormality of vision, Abnormality of retinal pigmentation ORPHA:1681
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Reduced visual acuity, Retinal exudat... OMIM:613310
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy, Nephrotic syndrome OMIM:618999
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy, Myopia ORPHA:2743
Basal Laminar Drusen
Drusen, Progressive visual loss OMIM:126700
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, R... ORPHA:79435
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Absent foveal reflex, Atten... ORPHA:52427
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffus... OMIM:617729
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Severe Early-Childhood-Onset Retinal Dystrophy
Chorioretinal atrophy, Retinal pigment epithelial mottling, Color vision defect, Visual impairmen... ORPHA:364055
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal pigment epithelial atrophy, Myopia, Retinal dystrophy, Visual impa... OMIM:616188
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss, Bone spicule pigmentation of the retina, Macular degene... OMIM:613767
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Retinopathy, Pigmentary, And Mental Retardation
Myopia, Pigmentary retinopathy, Visual impairment, Reduced visual acuity OMIM:268050
Jalili Syndrome
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Optic a... ORPHA:1873
Eem Syndrome
Abnormality of vision, Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Retinitis Pigmentosa 70
Nyctalopia, Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204000
Cystinuria
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis ORPHA:214
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proteinuria OMIM:245900
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Senior-Loken Syndrome
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Retinal dystrophy ORPHA:3156
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Nephropathy, Renal cyst OMIM:611773
Neovascular Glaucoma
Visual acuity test abnormality, Retinal vein occlusion, Visual loss, Abnormal posterior eye segme... ORPHA:94058
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Thyroiditis OMIM:619375
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Constriction of peripheral visual field, B... OMIM:180105
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Recurrent urinary tract infections, H... OMIM:248250
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... OMIM:612933
Non-Functioning Paraganglioma
Palpitations, Tremor, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochro... ORPHA:94080
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Glomerulopathy, Hypercalcemia, Proteinuria ORPHA:2668
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Hyperca... ORPHA:251004
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Cutis Marmorata Telangiectatica Congenita
Purpura, Leukocoria, Multicystic kidney dysplasia, Telangiectasia of the skin, Retinal detachment... ORPHA:1556
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Aminoaciduria, Ataxia, Hepatosplenomegaly ORPHA:33574
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria OMIM:134610
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria OMIM:261670
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Choroidal neovascularization, Macular drusen, Progre... OMIM:603075
Frasier Syndrome
Focal segmental glomerulosclerosis, Glomerulopathy, Nephroblastoma, Nephrotic syndrome, Renal ins... ORPHA:347
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Myopia, Iris coloboma ORPHA:1259
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Vitreoretinochoroidopathy
Nyctalopia, Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Iris coloboma, Corneal opacity, Catarac... ORPHA:1473
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Ischemic stroke, Stress urinary incontinence, Intracranial hemorrhage, Hypertension, ... ORPHA:136
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Pericarditis, Malar rash, Elevated circulating C-reacti... ORPHA:231111
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Pneumonia, Absent specific ant... OMIM:102700
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Myotonia, Dysmetria, Int... OMIM:615491
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrog... OMIM:274150
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Thickened glomerular basement membrane, Nephropathy, Glomer... OMIM:308940
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy, Progressive visual loss OMIM:164500
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Cryoglobulinemic Vasculitis
Hematuria, Proteinuria, Viral hepatitis, Glomerulopathy, Keratoconjunctivitis sicca, Renal insuff... ORPHA:91138
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Nyctalopia, Heterochromia iridis, Myopia, Abnormal retinal v... ORPHA:1390
Denys-Drash Syndrome
Nephroblastoma, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:220
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Progressive night blindness, Blindness, Abnormal retinal vas... ORPHA:791
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy, Renal insufficiency, Exercise-induc... OMIM:300653
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Anem... OMIM:613673
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Progressive night blindness, Retinal degeneration, High myopia, Paracentra... OMIM:210370
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation... ORPHA:79434
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Nyctalopia, Cystoid macular degeneration, Retinal degeneration, Constriction of ... OMIM:267760
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Dark urine, Myoglobinuria OMIM:232600
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Myopia, Generalized hyperpigmentation,... ORPHA:816
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Severely reduced visual acuity ORPHA:65
Aplasia Cutis-Myopia Syndrome
High myopia, Abnormality of retinal pigmentation ORPHA:1117
Narp Syndrome
Retinal pigment epithelial mottling, Abnormal visual field test, Blindness, Constriction of perip... ORPHA:644
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Arthritis, Myosit... ORPHA:69126
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Revesz Syndrome
Leukocoria, Hypertonia, Ataxia, Megalocornea, Aplastic anemia, Exudative retinopathy OMIM:268130
Glycogen Storage Disease Ic
Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hyperuricemia, Decreased glo... OMIM:232240
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate... ORPHA:2364
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Renal insufficiency, Myoglobinuria OMIM:255110
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Autoimmune Hepatitis
Increased total bilirubin, Inflammation of the large intestine, Acute hepatitis, Viral hepatitis,... ORPHA:2137
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Microscopic hematuria, Glomerular basement membrane lamel... OMIM:301050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Renal cyst, Chronic kidney ... OMIM:617056
Systemic Sclerosis
Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Glomerulonephritis, Arthritis, Chr... ORPHA:90291
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Dif... OMIM:251300
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Paralysis, Stroke, Dilatati... ORPHA:36382
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Proteinuria OMIM:166300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria ORPHA:69077
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Dyschromatopsia, Myopia, Peripheral retinal degeneration, Progressive vi... OMIM:264420
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Uveitis, Glomerulopathy, Arthritis, Conjunctivitis, Episcleritis, Renal ins... ORPHA:36412
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Abnormality of the urinary system, Macrothrombocytope... OMIM:600208
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment, Myopia OMIM:609508
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Abetalipoproteinemia
Reticulocytosis, Hypoalbuminemia, Anemia, Upper motor neuron dysfunction, Abnormal circulating ap... ORPHA:14
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Leukocytosis, Congenital throm... OMIM:618886
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Abnormal... ORPHA:3226
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Nyctalopia, Pigmentary retinopathy, Visual impairment OMIM:600151
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Hyperuricemia, Anemia ORPHA:371
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Retinal coloboma, Renal hypoplasia, Lens luxation, Chorioret... OMIM:120330
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Tremor, Elevated urinary dopamine, Hematuria, Retinal capillary hemangioma, Aniridi... ORPHA:29072
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Acute kidney injury, Decreased mean corpuscu... ORPHA:244242
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Canavan Disease
Blindness, Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:141
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Reduced visual acuity, Periphe... OMIM:305390
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Microscopic hematur... ORPHA:1830
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Purpura, R... OMIM:235400
Retinitis Pigmentosa 73
Rod-cone dystrophy, Nyctalopia, Retinal atrophy, Constriction of peripheral visual field OMIM:616544
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Choreoathetosis, Ataxia OMIM:612126
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Retinal detachment, Spasticity ORPHA:2714
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:1466
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Visual loss, Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Ecchymosis, Abnormal bleeding, Acute kidney injury, In... ORPHA:449285
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Myopia, Retinal detachment ORPHA:90654
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Hypertension, Telangiectasia, Retinal detachment OMIM:219250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Dark urine, Abnormality of the urinary system, Discoid lupus rash, Arthriti... ORPHA:93552
Enhanced S-Cone Syndrome
Nyctalopia, Pigmentary retinopathy, Hemeralopia, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal platelet aggregation, Hypertension, Stroke, Thrombocytopenia, Abnor... ORPHA:401945
Al Amyloidosis
Albuminuria, Increased circulating antibody level, Increased circulating NT-proBNP concentration,... ORPHA:85443
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Visual impairment ORPHA:1433
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Nyctalopia, Abnormality of retinal pigmentation, ... ORPHA:5
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Increased inflammatory response, Uveitis, Glomer... ORPHA:727
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Aminoaciduria, Spastic tetraplegia, Hypoalbuminemia, Myoclonus, Elev... OMIM:619055
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Constriction of peripheral visual field, Pigmentary retino... OMIM:616562
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Tetraparesis, Myotonia, Percussion-induced rapid rolling muscle contractions, ... ORPHA:324442
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Wyburn-Mason Syndrome
Iris hypopigmentation, Subarachnoid hemorrhage, Hemiparesis, Epistaxis, Cerebral hemorrhage, Abno... ORPHA:53719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Hyponatremia, Hepatitis, Encephalitis, Pancreatitis, Myoca... ORPHA:549
Hyperkalemic Periodic Paralysis
Arrhythmia, Hypertonia, Periodic hyperkalemic paralysis, Hyponatremia, Myotonia, Hypokalemia, Con... ORPHA:682
Majeed Syndrome
Pustule, Inflammatory abnormality of the skin, Synovitis, Glomerulopathy, Abnormal inflammatory r... ORPHA:77297
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Chronic kidney disease, Nep... ORPHA:85445
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Fasciculations, Elevated circulating creatine kinase concentration OMIM:137200
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Hematuria, Joint hemorrhage, Gastrointestinal hemorrhage, Bleed... ORPHA:35909
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Presenile... ORPHA:182050
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome OMIM:215250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations, Clumsines... ORPHA:488650
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Petechiae... ORPHA:99828
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:618347
Marburg Hemorrhagic Fever
Skin rash, Hematuria, Pancreatitis ORPHA:99826
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Hematuria, Acute kidney injury, Leukocytosis, Hypot... ORPHA:91547
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Endocarditis, Increased inflammatory response, Glomerulopathy, Arthritis, T... ORPHA:183
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Glanzmann Thrombasthenia
Macroscopic hematuria ORPHA:849
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Petechiae, Optic atrophy, Splenomegaly, Anemia, Hepatosplenome... OMIM:611490
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Myotonia Congenita, Autosomal Dominant
Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up pheno... OMIM:160800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Cystathioninuria, Nephropathy, Hemolytic-uremic syndrome, Hypomethioninemia, Methylmal... OMIM:277400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hydronephro... OMIM:214100
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Hematuria, Joint hemo... ORPHA:98879
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Lymphatic Filariasis
Epididymitis, Urethral obstruction, Hematuria, Lymphadenitis, Orchitis, Glomerulonephritis, Knee ... ORPHA:2035
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Ventricular escape rhythm, Myotonia, Hypertr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Ventricular escape rhythm, Myotonia, Hypertr... ORPHA:98853
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Reduced visual acuity, Vitreous hemorrhage, ... OMIM:133780
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Spasticity OMIM:257910
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid, Abnormal anterior eye segment morph... ORPHA:209956
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Paraprote... ORPHA:439232
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Renal insufficiency, Chronic kidney disease, Abnormal r... OMIM:137940
Congenital Disorder Of Glycosylation, Type Iif