Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:616267 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Immunodeficiency 115 With Autoinflammation |
|
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... |
OMIM:620632 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... |
OMIM:208920 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... |
OMIM:616050 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... |
ORPHA:247585 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:619013 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... |
ORPHA:88618 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor |
OMIM:254900 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Macrophage Activation Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... |
ORPHA:158061 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc |
OMIM:617093 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:540 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Intention tremor, Tremor |
OMIM:212065 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Dystonia |
OMIM:619487 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hand tremor, Hyperbilirubinemia, Limb dystonia, Increased circulat... |
OMIM:277900 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... |
ORPHA:37042 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
Al Amyloidosis |
|
Hypoalbuminemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Dystonia |
OMIM:251300 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... |
OMIM:222470 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... |
ORPHA:90363 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... |
ORPHA:845 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... |
ORPHA:186 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... |
ORPHA:2298 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia |
OMIM:613658 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration |
OMIM:270400 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Kawasaki Disease |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2331 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Dystonia, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Pmm2-Cdg |
|
Hypoalbuminemia, Reduced thyroxin-binding globulin |
ORPHA:79318 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia |
OMIM:617228 |