banner
Genes Phenotypes Help, News, Blog

Gene: Lamb2 MGI:99916

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
laminin, beta 2
Synonyms:
Lams,  Lamb-2,  npht

Order Alleles

IMPC Data Collections

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

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.

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 Lamb2 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 Lamb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915

The table below shows human diseases predicted to be associated to Lamb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Uraciluria, Optic atrophy OMIM:274270
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... ORPHA:329918
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... OMIM:618347
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Intrauteri... ORPHA:26792
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Congenital Glaucoma
Retinal detachment ORPHA:98976
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cednik Syndrome
Short stature, Proteinuria, Optic atrophy, Nephrotic syndrome, Abnormality of peripheral nerve co... ORPHA:66631
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... OMIM:613779
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney ORPHA:79327
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Stage 5 chronic kidney disease, Renal... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Methylmalonic Acidemia With Homocystinuria
Skin rash, Lethargy, Retinopathy ORPHA:26
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal chorioretinal morphology, Proteinuria, Macular dyst... ORPHA:225
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Growth delay, Lethargy, Pancreatitis ORPHA:289916
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... OMIM:620010
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... ORPHA:247598
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Coloboma Of Macula
Macular coloboma OMIM:120300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Failure to thrive OMIM:602579
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria, Arthritis ORPHA:375
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis ORPHA:2315
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Severe Canavan Disease
Lethargy, Optic atrophy ORPHA:314911
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Increased level of galactitol... ORPHA:79237
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Proteinuria, Abnormality of the kidney, Renal agenesis,... ORPHA:261222
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Renal insufficiency, Optic atrophy, Pancreatitis ORPHA:79312
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Short stat... OMIM:120330
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Isolated Atp Synthase Deficiency
Short stature, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, Lethargy, Rod-cone d... ORPHA:254913
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Facial palsy, Macular coloboma OMIM:107550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Chorioretinal atrophy, Lethargy, Acute hepatitis, Homocitrul... OMIM:238970
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney ORPHA:369
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Abnormal retinal morphology... ORPHA:251004
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Optic atrophy, Retinal dystrophy, Short stature ORPHA:49827
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Growt... OMIM:619858
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Optic atrophy, Pancreatitis ORPHA:27
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Lethargy, Hyperlysinuria, Growth delay OMIM:238750
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Glycine Encephalopathy 1
Lethargy, Hyperglycinuria OMIM:605899
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase c... OMIM:615895
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Hypospadias, Patent ductus arteriosus, Pigmentary retinopathy, Aminoaciduria, ... OMIM:214100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Optic atrophy, Lethargy OMIM:618228
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... OMIM:617093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Glomerulopathy, Proteinuria, Short stat... ORPHA:2715
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia OMIM:235255
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... OMIM:616026
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Hypoalbuminemia, Small for gestational age OMIM:617021
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... OMIM:603471
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:619487
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... ORPHA:436271
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... ORPHA:1667
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Optic atrophy OMIM:603896
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Idiopathic Intracranial Hypertension
Papilledema, Lethargy, Depression ORPHA:238624
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, In... ORPHA:90041
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Lethargy, Optic atrophy OMIM:618226
Dihydropyrimidinase Deficiency
Growth delay, Lethargy, Uraciluria OMIM:222748
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Hyperlipidemia, Ketonuria, Glycosuria ORPHA:2089
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... ORPHA:29073
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Nephronophthisis 14
Retinal degeneration OMIM:614844
Dengue Fever
Hypoproteinemia ORPHA:99828
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria, Lethargy, Pancreatitis OMIM:619386
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... OMIM:616222
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Truncal obesity ORPHA:633
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Meningococcal Meningitis
Papilledema, Renal insufficiency, Skin rash, Lethargy, Infectious encephalitis ORPHA:33475
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... OMIM:605711
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Favor... ORPHA:353327
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary nephrocalcinosis OMIM:143880
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Arthritis... OMIM:615559
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Periodontitis, Moderate albuminuria, Retinopathy, Hydr... OMIM:619269
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... ORPHA:540
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... ORPHA:411634
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal tubul... OMIM:617303
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Intraut... ORPHA:99885
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal renal morphology, Increased body weight, Abnormality of the urinar... OMIM:182290
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, ... OMIM:212065
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Aminoaciduria, Hyp... OMIM:619055
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Hepatic necrosis, Pigmentary retinopathy, Int... ORPHA:71212
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Proteinuria ORPHA:2143
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Os... ORPHA:90291
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Van Den Bosch Syndrome
Choroideremia, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Recu... ORPHA:3417
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, 3-Methylglutaconic aciduria, Hypoalbuminemia OMIM:618329
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Renovascular hypertension ORPHA:401923
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... OMIM:619644
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... OMIM:617730
Riboflavin Deficiency
Lethargy, Dicarboxylic aciduria OMIM:615026
Schimke Immuno-Osseous Dysplasia
Proteinuria, Short stature, Minimal change glomerulonephritis, Disproportionate short-trunk short... ORPHA:1830
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, 3-Methylglutaconic aciduria, Short stature OMIM:618120
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Myoglobinuria, Lethargy OMIM:609015
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency ORPHA:28
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Depression, Hematuria, Arthr... ORPHA:536
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compr... ORPHA:276621
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Lethargy OMIM:617065
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia OMIM:608104
Glycogen Storage Disease Ia
Proteinuria, Short stature, Delayed puberty, Nephrolithiasis, Gout, Growth delay, Focal segmental... OMIM:232200
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hypoalbuminemia,... OMIM:251880
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... ORPHA:2298
Autoinflammation, Immune Dysregulation, And Eosinophilia
Short stature, Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia OMIM:618999
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... OMIM:220110
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Pneumonia, Skin rash, Abnormal retinal vascular morphology... ORPHA:247691
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... OMIM:614034
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... OMIM:251300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Optic atrophy, Organic aciduria, Con... OMIM:253260
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... OMIM:308940
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria OMIM:300653
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Avian Influenza
Acute kidney injury, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevate... ORPHA:454836
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria, Short stature ORPHA:1192
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma OMIM:601794
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Fatigable weakness, Fatigable weak... ORPHA:42
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Increased urinary O... OMIM:256550
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Short stature, Nephrocalcinosis, Distal renal tubular acidosis, Lethargy OMIM:611590
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Homocystinuria, Methylmalonic aciduria OMIM:236270
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Opti... ORPHA:79282
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:79240
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal steatosis, Obesity, Increase... ORPHA:412
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Abnormality of the ... ORPHA:819
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephri... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Patent ductus arteriosus OMIM:610498
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Cranial nerve compr... ORPHA:29072
Central Diabetes Insipidus
Lethargy, Nocturia, Depression ORPHA:178029
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Thyroiditis OMIM:619375
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... OMIM:614922
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Glycogen Storage Disease Ib
Proteinuria, Short stature, Delayed puberty, Nephrolithiasis, Gout, Focal segmental glomeruloscle... OMIM:232220
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypospadias, Rhizomelia, Patent ductus arteriosus, Recurrent pneumonia, Letha... OMIM:607143
Isolated Complex I Deficiency
Optic disc pallor, Optic neuropathy, Proximal tubulopathy, Lethargy, Intrauterine growth retardation ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria OMIM:618886
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Decreased nerve conduction velocity, Methylmalonic aciduria, Aminoaciduria, Abnorm... ORPHA:1933
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Depres... ORPHA:2137
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Optic atrophy OMIM:614299
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Methylmalonic aciduria, Growth delay, Lethargy, Homocystinuria OMIM:614857
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph... ORPHA:37042
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal autonomic nervous system physiolog... ORPHA:330001
Familial Hypoaldosteronism
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Proximal renal tubular ... ORPHA:427
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis OMIM:617900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... ORPHA:263455
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria OMIM:250620
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria, Lethargy ORPHA:35706
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency, Undetectable visual evoked potentials, Optic atrophy, Bradykinesia OMIM:601338
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Lethargy OMIM:615838
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Optic atrophy, Abnormal ... ORPHA:2510
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory... ORPHA:320401
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abulia,... OMIM:125310
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Optic atrophy, 3-Methylglutaric aciduria, 3-Methylglut... OMIM:610198
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Herpes simplex encephalitis OMIM:613002
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... ORPHA:36234
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia ORPHA:367
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Lethargy ORPHA:2394
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy ORPHA:834
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Trichohepatoenteric Syndrome 1
Hypospadias, Small for gestational age, Galactosuria, Hypoalbuminemia, Increased serum iron, Abno... OMIM:222470
Biotinidase Deficiency
Skin rash, Optic neuropathy, Optic atrophy, Organic aciduria, Conjunctivitis, Lethargy, Eczematoi... ORPHA:79241
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Tubulointerst... OMIM:203800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Retinal hemorrhage, Macular edema, Hematuria, Retinal exudate OMIM:192315
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Obesity ORPHA:329249
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Growth delay, Organic aciduria, Lethargy, Perioral eczema ORPHA:79242
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Propionic Acidemia
Increased level of hippuric acid in urine, Eczema, Short stature, Hyperglycinuria, Lethargy, Panc... OMIM:606054
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... OMIM:619147
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome OMIM:161200
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... OMIM:232800
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Iris coloboma OMIM:216820
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy OMIM:617105
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Postnatal growth retardation, Lethargy, Intrauterine g... ORPHA:2169
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Optic atrophy OMIM:614231
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Arima Syndrome
Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatocellular ... OMIM:201475
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss ORPHA:90060
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Glomerulonephritis, Pneumonia, Abnormality of the ... ORPHA:1304
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Decreased glomerular filtration rate OMIM:242530
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Optic atrophy, Homocystinuria ORPHA:395
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Lethargy, P... OMIM:251000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy OMIM:613561
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis OMIM:235510
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Obesity OMIM:619471
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Isovaleric Acidemia
Lethargy, Hyperglycinuria OMIM:243500
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Postnatal growth retardati... ORPHA:90321
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circula... ORPHA:89842
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma OMIM:304790
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Alg12-Cdg
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Failure to thrive ORPHA:79324
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Lethargy OMIM:210200
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Optic disc pallor, Hypospadias, Optic neuropathy, Lacticaciduria,... OMIM:252010
Melas
Bipolar affective disorder, Proteinuria, Short stature, Optic atrophy, Depression, Pigmentary ret... ORPHA:550
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Optic nerve dysplasia, Optic atrophy, Renal cyst, Pigmentary retinopathy, Polycystic... OMIM:614866
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis ORPHA:99931
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Opt... ORPHA:761
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Abnormal autonomic nervous system physi... OMIM:301500
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria, Lethargy OMIM:255120
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Carnitine Deficiency, Systemic Primary
Lethargy, Dicarboxylic aciduria OMIM:212140
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Lethargy, Infectious encephalitis ORPHA:83317
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Facial palsy, Decr... ORPHA:98913
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul... ORPHA:340
Marcus-Gunn Syndrome
Postnatal growth retardation, Nephrolithiasis, Abnormal fifth cranial nerve morphology, Morning g... ORPHA:91412
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Skin rash, Abnormal auditory evoked p... OMIM:617523
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Retinal detachment, Retinal dystrophy, Proteinuria OMIM:222448
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... OMIM:232240
Maple Syrup Urine Disease
Lethargy, Increased level of hippuric acid in urine, Pancreatitis OMIM:248600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Optic atrophy OMIM:251900
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... ORPHA:14
Hypocalcemia, Autosomal Dominant 1
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Decreased glomerular filtration... OMIM:601198
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Dyschondrosteosis-Nephritis Syndrome
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... ORPHA:1765
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Proteinuria, Hypertriglyceridemia ORPHA:79086
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Abnormality of the urinary system, Optic atrophy, Short ... ORPHA:702
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Growth delay, Stomatitis, Intrauter... ORPHA:79284
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... OMIM:615751
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Lethargy ORPHA:156
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Short stature, Chronic kidney disease, Renal cyst, Nephritis, R... OMIM:208500
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Short stature, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Sto... OMIM:277380
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity ORPHA:66628
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature OMIM:616901
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy, Eczema, Renal cortical cysts ORPHA:79323
Hemochromatosis, Type 2A
Arthritis, Lethargy OMIM:602390
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Papilledema, Stage 3 chronic kidney disease OMIM:620366
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity ORPHA:179494
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hypertriglyceridemia ORPHA:2348
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy ORPHA:30925
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria ORPHA:300536
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Pseudo-Torch Syndrome 2
Lethargy, Patent ductus arteriosus, Abnormal renal corticomedullary differentiation OMIM:617397
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Cyclic Vomiting Syndrome
Growth delay, Lethargy OMIM:500007
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c, Glycosuria OMIM:617253
Glycerol Kinase Deficiency
Increased urinary glycerol, Small for gestational age, Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Mania, Acute k... ORPHA:90068
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Trichinellosis
Skin rash, Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Conjunctivitis, Ab... ORPHA:863
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Recurrent urinary tract infections, Hypertriglyceri... OMIM:619802
Thymoma
Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Holocarboxylase Synthetase Deficiency
Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric ... OMIM:253270
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnor... ORPHA:369837
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration, Decreased ... ORPHA:444490
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cockayne Syndrome A
Renal insufficiency, Retinal atrophy, Proteinuria, Short stature, Abnormal auditory evoked potent... OMIM:216400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Chorioretinal atrophy, Hepatitis, Chorioretinal hypopigmentation, Lethargy, Oroticaciduria ORPHA:415
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... ORPHA:36412
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... ORPHA:91138
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Bronchiectasis, Chronic muco... OMIM:615816
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Depression, Hemat... ORPHA:324
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor, Short stature, Eczema ORPHA:314389
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Classic Galactosemia
Lethargy, Depression, Delayed puberty ORPHA:79239
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Abnormality of urine homeostasis ORPHA:1414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Fatigable weakness of skeletal muscles, Osteoarthritis, ... ORPHA:1320
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Disproportionate short-trunk short stature, Stage 5 chronic kid... OMIM:242900
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... OMIM:300908
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormal... ORPHA:309256
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Lethargy OMIM:210210
Crigler-Najjar Syndrome
Lethargy, Infectious encephalitis ORPHA:205
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Abnormality of pattern visual evoked potentials, Renal cyst, Horseshoe kidney, Int... ORPHA:166035
Agel Amyloidosis
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Depression, Keratoconjunctivitis sicca... ORPHA:85448
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Ren... ORPHA:191
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormal... ORPHA:309263
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature ORPHA:1307
Pyruvate Dehydrogenase Deficiency
Growth delay, Intrauterine growth retardation, Lethargy ORPHA:765
Hydranencephaly
Optic nerve hypoplasia, Postnatal growth retardation, Chorioretinal atrophy, Intrauterine growth ... ORPHA:2177
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy OMIM:274400
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Lethargy ORPHA:746
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Short stature, Undetectable visual evoked... ORPHA:423479
Methylmalonic Aciduria, Cbla Type
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2... OMIM:251100
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Renal Nutcracker Syndrome
Orthostatic hypotension, Proteinuria, Hematuria, Abnormal autonomic nervous system physiology, Re... ORPHA:71273
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Increased circulating ferritin concentration OMIM:194380
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Optic atrophy, Aspiration pneumonia, Abnormality of visual e... ORPHA:52368
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy, Homocystinuria, Methylmalonic aciduria OMIM:277410
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy ORPHA:276556
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Proteinuria, Abnormal auditory evoked potentials, Decr... OMIM:133540
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Chorioretinal hypopigmentation, Micropenis ORPHA:398079
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Short stature, Optic disc coloboma, Optic at... OMIM:122470
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Growth delay, Abnormality ... ORPHA:485421
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria, Hyponatremia ORPHA:549
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Depression, Cholecystit... ORPHA:309271
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy ORPHA:276580
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy ORPHA:324575
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... ORPHA:534
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis OMIM:231530
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria OMIM:212138
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Postnatal growth retardation, Chordee, Intrauterine growth reta... ORPHA:96179
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria, Oliguria ORPHA:159
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... ORPHA:33001
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Obesity ORPHA:69663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Multiple bladder diverticula, Recurrent otitis media, ... ORPHA:2728
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... ORPHA:183
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Chorioretinal hypopigmentation, Short stature, Micropenis ORPHA:398069
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unc... OMIM:613658
Cystic Echinococcosis
Membranous nephropathy, Renal cyst ORPHA:400
Galloway-Mowat Syndrome
Proteinuria, Short stature, Nephrotic syndrome, Nephropathy, Intrauterine growth retardation ORPHA:2065
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
H Syndrome
Micropenis, Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Typhoid
Skin rash, Lethargy, Infectious encephalitis ORPHA:99745
Methylmalonic Aciduria, Cblb Type
Lethargy, Ketonuria, Methylmalonic aciduria OMIM:251110
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Primary Sclerosing Cholangitis
Renal insufficiency, Hypoalbuminemia, Weight loss ORPHA:171
Cirrhosis, Familial
Lethargy, Fulminant hepatitis, Increased level of L-fucose in urine OMIM:215600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria, Optic atrophy OMIM:616878
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Abnormal circulating thyroglobulin level, Neonatal hyper... ORPHA:90674
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... ORPHA:900
Warburg Micro Syndrome 2
Postnatal growth retardation, Micropenis, Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Aspiration pneumonia, Abnormality of... ORPHA:35069
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Histiocytoid Cardiomyopathy
Lethargy, Optic atrophy, Renal cyst ORPHA:137675
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia ORPHA:79396
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Facial palsy, Depression, Bradykinesia, Facial diplegia, Lethargy, No... ORPHA:254892
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles, Fatigable weaknes... ORPHA:254854
Cholera
Abnormality of renal excretion, Aspiration pneumonia, Lethargy, Acute kidney injury, Decreased ur... ORPHA:173
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Facial palsy OMIM:607483
Ohdo Syndrome
Proteinuria, Short stature OMIM:249620
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Susac Syndrome
Lethargy, Apathy ORPHA:838
Autosomal Dominant Hypocalcemia
Eczema, Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Fatigable weakness, Hypermag... ORPHA:428
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy ORPHA:927
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ketonuria, 3-Methylglutaric aciduria, Apathy, Lethargy ORPHA:20
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... ORPHA:3261
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... ORPHA:99826
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Hereditary Fructose Intolerance
Growth delay, Lethargy, Renal insufficiency, Chronic kidney disease ORPHA:469
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo... OMIM:231550
Ogden Syndrome
Postnatal growth retardation, Lethargy ORPHA:276432
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Spondyloenchondrodysplasia
Proteinuria, Pneumonia, Skin rash, Short stature, Chronic kidney disease, Disproportionate short-... ORPHA:1855
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia ORPHA:79076
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... ORPHA:358
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... OMIM:619534
Ruvalcaba Syndrome
Abnormal localization of kidney, Hematuria, Delayed puberty, Abnormality of visual evoked potenti... ORPHA:3121
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ethylmalonic aciduria OMIM:201470
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Citrullinemia Type I
Lethargy ORPHA:247525
Glycogen Storage Disease Xii
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... OMIM:611881
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Glomerulonephritis, Pneumoni... ORPHA:2968
Pineoblastoma
Papilledema, Retinoblastoma, Lethargy ORPHA:251909
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria ORPHA:86818
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Transcobalamin Ii Deficiency
Lethargy, Methylmalonic aciduria OMIM:275350
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Medulloblastoma
Lethargy, Abnormal cranial nerve morphology ORPHA:616
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Leptospirosis
Cellular urinary casts, Hyperproteinemia, Acute kidney injury ORPHA:509
White-Sutton Syndrome
Duplicated collecting system, Short stature, Optic nerve hypoplasia, Patent ductus arteriosus, Ab... OMIM:616364
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Pustule, Intrarenal abscess, Lethargy, I... ORPHA:68
Pearson Syndrome
Renal insufficiency, Proteinuria, Postnatal growth retardation, Lacticaciduria, Renal cyst, Growt... ORPHA:699
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Gaucher Disease
Osteomyelitis, Proteinuria, Short stature, Osteoarthritis, Hepatitis, Depression, Hematuria, Dela... ORPHA:355
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Encephalitis Lethargica
Lethargy, Urinary incontinence ORPHA:83600
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c OMIM:619127
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Insulinoma
Lethargy ORPHA:97279
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Evans Syndrome
Lethargy ORPHA:1959
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Citrullinemia, Classic
Lethargy, Oroticaciduria OMIM:215700
Wagro Syndrome
Nephroblastoma, Proteinuria, Obesity OMIM:612469
Argininosuccinic Aciduria
Lethargy, Aminoaciduria, Oroticaciduria OMIM:207900
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Leth... OMIM:557000
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Gaucher Disease Type 1
Proteinuria, Osteoarthritis, Hematuria, Growth delay, Delayed puberty ORPHA:77259
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Late-Onset Isolated Acth Deficiency
Lethargy, Orthostatic hypotension, Hepatitis, Hashimoto thyroiditis ORPHA:199299
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias OMIM:620306
Staphylococcal Necrotizing Pneumonia
Acute infectious pneumonia, Lethargy, Pneumonia ORPHA:36238
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Hypertriglyceridemia, Nephrolithiasis OMIM:269700
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Polyuria, Hypercholesterolemia, Failure to thrive OMIM:606721
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Oroticaciduria OMIM:311250
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthritis, Apathy, Lethargy ORPHA:465508
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Holoprosencephaly
Hypoplasia of penis, Proteinuria, Optic atrophy, Abnormality of the urinary system, Chorioretinal... ORPHA:2162
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Alkaptonuria
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Chordee, Micropenis OMIM:300519
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Nephrolithiasis OMIM:608594
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619418
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Growth delay, Lethargy, Pituitary dwarfism, Optic nerve hypoplasia ORPHA:226307
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98908
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hypospadias, Obesity ORPHA:254346
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss OMIM:619381
Necrotizing Enterocolitis
Lethargy, Peritonitis ORPHA:391673
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Lethargy, Depression ORPHA:99832
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Otitis media, Micropenis, Short stat... ORPHA:64
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Hypercalciuria, Nephrolithiasis, Depression, Lethargy ORPHA:652
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Skin rash OMIM:618321
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Short stature OMIM:201100
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Ebola Hemorrhagic Fever
Lethargy, Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... OMIM:619573
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Renal insufficiency, Abnormal optic nerve morphology, Oc... ORPHA:79430
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Short stature ORPHA:1389
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Stage 5 chronic kidney disease OMIM:608612
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Short stature, Postnatal growth retardation, Patent ductus arteriosus ORPHA:1272
Alobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Aspiration pneumonia, Abnormality of the autonom... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Aspiration pneumonia, Abnormality of the autonom... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Aspiration pneumonia, Abnormality of the autonom... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Depression, Growth delay, Apathy, Aspiration pneumonia, Abnormality of the autonom... ORPHA:220386
Diamond-Blackfan Anemia
Short stature, Renal agenesis, Hypospadias, Horseshoe kidney, Growth delay, Lethargy ORPHA:124
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Glycosuria, Decreased body weight, Failure to thrive ORPHA:79474
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Recurrent otitis media, Lethargy, Bronchiectasis OMIM:620233
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Proteinuria, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Retinal h... ORPHA:99827
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy, Urinary incontinence ORPHA:306674
Gaucher Disease Type 3
Hematuria, Growth delay, Proteinuria, Delayed puberty ORPHA:77261
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Elevated circul... OMIM:256040
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Pmm2-Cdg
Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Multiple renal cysts, Hypoalb... ORPHA:79318
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti... ORPHA:2331
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Hypospadias, Long penis, Failure to thrive OMIM:264090
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Failure to thrive, Wide pe... ORPHA:3455
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Exercise-Induced Malignant Hyperthermia
Lethargy, Acute kidney injury, Oliguria ORPHA:466650
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis ORPHA:2750
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Complete Atrioventricular Septal Defect
Lethargy, Recurrent pneumonia ORPHA:1329
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Urinary incontinence, Abnormality of visual evoked potentials ORPHA:512
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Orofaciodigital Syndrome I
Short stature, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Chronic rhinitis, Otitis media, Abnormality of visual evoked potentials, Optic nerv... ORPHA:667
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Eisenmenger Syndrome
Patent ductus arteriosus, Lethargy, Renal insufficiency, Bacterial endocarditis ORPHA:97214
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Renal artery atherosclerosis, Elevated circulating creatine kinase concentration ORPHA:565612
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Obesity ORPHA:91
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Myositis, Facial palsy ORPHA:258
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Acid... OMIM:203700
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Proteinuria OMIM:616682
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Lethargy OMIM:218700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Woodhouse-Sakati Syndrome
Micropenis, Hyperlipidemia OMIM:241080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis ORPHA:293987
Glycine Encephalopathy
Lethargy ORPHA:407
Woodhouse-Sakati Syndrome
Micropenis, Hyperlipidemia ORPHA:3464

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lamb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lamb2.

No publications found that use IMPC mice or data for Lamb2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lamb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lamb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lamb2tm457648(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lamb2tm214957(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter