Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Alg6-Cdg |
|
Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-cone dystrophy, Brac... |
ORPHA:79320 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Metaphyseal widening, Attenuation of retinal blood vessels, Brachydactyly, Rhiz... |
OMIM:614376 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... |
ORPHA:2502 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hypoalbuminemia |
OMIM:618805 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... |
OMIM:208920 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Hypercholest... |
OMIM:616730 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, Conjunctivitis, Decreas... |
OMIM:242150 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Talipes equinovarus, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Clubbing |
OMIM:614441 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Hypoalbuminemia |
OMIM:209950 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
C3 Glomerulopathy |
|
Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/white les... |
ORPHA:329918 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing of fingers, Hypoalbuminemia, Hypoproteinemia, Clubbing |
OMIM:226300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529799 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Galloway-Mowat Syndrome 1 |
|
Talipes equinovarus, Slender finger, Opacification of the corneal stroma, Camptodactyly, Optic at... |
OMIM:251300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flared iliac wing, Metaphyseal widening, Chorioretinal hypopigmentation, Optic atrophy, Hypoalbum... |
OMIM:617303 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... |
OMIM:250220 |
Papillorenal Syndrome |
|
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... |
OMIM:120330 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Abetalipoproteinemia |
|
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Abnormality of retinal pig... |
ORPHA:14 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Alg12-Cdg |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Retinal detachment, Overlapping fingers, Lon... |
ORPHA:79324 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Aminoaciduria, Hand tremor, Hypou... |
OMIM:277900 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Optic atrophy, Attenuation of retinal blood vessels, Hypoalbuminemia |
OMIM:610965 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... |
ORPHA:86839 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Chorioretinal atrophy, Hypoalbuminemia |
OMIM:619487 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... |
OMIM:608836 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Optic atrophy, Chorioretinal hyperpigmentation, Hypoalbuminemia |
OMIM:618329 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia |
ORPHA:79233 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Talipes equinovarus, Small hand, Camptodactyly, Hypoplastic iliac wing, Hypoalbuminemia, Short fo... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Rod-cone dystrophy, Intention tremor, Tremor, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Co... |
ORPHA:89842 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Astigmatism, San... |
OMIM:618885 |
Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Clubbing |
OMIM:174900 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hip dislocation, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... |
ORPHA:67043 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Avascular necros... |
ORPHA:247691 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... |
OMIM:271665 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia |
OMIM:619055 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Corneal c... |
ORPHA:411634 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Iliac crest serration, Rhizomelic arm shortening, Long fibula, Short palm,... |
ORPHA:93317 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormality of retinal pigmentation, Conjunctivitis, Hypoalbuminemia |
ORPHA:505248 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Smith-Lemli-Opitz Syndrome |
|
Overlapping toe, Elevated 7-dehydrocholesterol, 2-3 toe cutaneous syndactyly, Short toe, 2-3 toe ... |
OMIM:270400 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Juvenile Polyposis Of Infancy |
|
Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Clubbing of fingers, Broad phalanx of the... |
ORPHA:79076 |
Trichohepatoenteric Syndrome 1 |
|
Avascular necrosis of the capital femoral epiphysis, Hypermethioninemia, Abnormality of iron home... |
OMIM:222470 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... |
OMIM:223900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... |
ORPHA:37042 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Flared metaphysis, Irregular epiphyses, Short femoral neck, Carpal bone... |
OMIM:610442 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Retinal dystrophy |
OMIM:266900 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia |
ORPHA:79396 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating fatty-acid concentration, Abnormal cir... |
ORPHA:2298 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Aminoaciduria, Abnorm... |
ORPHA:91500 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... |
ORPHA:90363 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99826 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Retinal detachment, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... |
ORPHA:85450 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Optic disc coloboma |
ORPHA:2260 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Overlapping toe, Talipes equinovarus, Exaggerated startle response, Optic atrophy, Hip dislocatio... |
OMIM:617301 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Elevated circulating creatinine concentration |
OMIM:617478 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Overlapping toe, Exaggerated startle response |
OMIM:618598 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Broad first metatarsal, Hyperbilirubinemia, Postaxi... |
OMIM:619534 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
Hyperekplexia 1 |
|
Hip dislocation, Exaggerated startle response |
OMIM:149400 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Gm1 Gangliosidosis Type 1 |
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Broad metacarpals, Flattened femoral head, Exaggerated startle response, Flared iliac wing, Cherr... |
ORPHA:79255 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Hyperextensibility of the finger joints, Long fingers, Optic atroph... |
ORPHA:521426 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Increased serum ... |
ORPHA:845 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia |
OMIM:619381 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Postaxial polydactyly, Long fingers, Optic atrophy, Rocker bottom foot |
OMIM:617527 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Asparagine Synthetase Deficiency |
|
Large hands, Exaggerated startle response |
OMIM:615574 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:449395 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Sandhoff Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:268800 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
|
Photoreceptor layer loss on macular OCT, Rod-cone dystrophy, Long fingers, Cataract, Hypoalbumine... |
ORPHA:79318 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:99829 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Clinodactyly of the 5th finger, Exaggerated startle response, Short 5th finger, Tapered finger, S... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Optic disc pallor, Hip dysplasia, Dystonia |
ORPHA:438213 |