| Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
| Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
| Chorea, Benign Hereditary |
|
Anxiety, Dementia, Gait disturbance |
OMIM:118700 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Ataxia, Cognitive impairment, Loss of ambulation, Dementia, Elevated circulating cre... |
OMIM:208920 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
OMIM:607250 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... |
ORPHA:412066 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Anxiety, Mental deterioration, Depression, Dysmetria |
OMIM:619191 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Cognitive impairment, Hypercholeste... |
OMIM:616267 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia |
OMIM:613752 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Huntington Disease-Like 1 |
|
Unsteady gait, Anxiety, Dementia, Depression, Aggressive behavior, Dysmetria |
OMIM:603218 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Huntington Disease-Like 2 |
|
Subcortical dementia, Apathy, Anxiety, Dementia, Irritability, Inertia, Memory impairment, Bradyk... |
OMIM:606438 |
| Dystonia 12 |
|
Emotional lability, Unsteady gait, Anxiety, Bradykinesia, Depression |
OMIM:128235 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Choreoathetosis, Elevated circulati... |
ORPHA:64753 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Irritability, Increased total b... |
OMIM:267700 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Irritability, Hypertriglycerid... |
ORPHA:247585 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia |
ORPHA:79320 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia |
OMIM:246700 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Ataxia, Irritability, Increased total bilirubin, Hypertriglyceridemia, Increased... |
OMIM:603553 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Mental deterioration, Ataxia, Hypoalbuminemia |
OMIM:617575 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Bipolar affective disorder, Abnormal aggressive, impulsiv... |
ORPHA:3077 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Mental deterioration, Gait ataxia, Unsteady gait, Hypoalbuminemia |
OMIM:254900 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Congenital Enterovirus Infection |
|
Hyperammonemia, Irritability, Hypoalbuminemia |
ORPHA:292 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... |
ORPHA:88618 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Anxiety, Abnormal circulating selenium concentration, Decreased plasma carn... |
ORPHA:89842 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| Avian Influenza |
|
Hypoxemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine k... |
ORPHA:454836 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia |
ORPHA:64743 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
| Abetalipoproteinemia |
|
Ataxia, Broad-based gait, Decreased LDL cholesterol concentration, Steppage gait, Hyperbilirubine... |
ORPHA:14 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Aicardi-Goutieres Syndrome 9 |
|
Self-mutilation, Irritability, Hypoalbuminemia |
OMIM:619487 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Hypoalbuminemia |
OMIM:617303 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Progressive neurologic deterioration, Hypoalbuminemia |
OMIM:618329 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529799 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Lethargy... |
OMIM:617156 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Dysmetria, Ataxia, Hypoalbuminemia |
OMIM:212065 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... |
ORPHA:36234 |
| Hepatocellular Carcinoma |
|
Emotional lability, Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia |
ORPHA:88673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia |
OMIM:618183 |
| Galloway-Mowat Syndrome 1 |
|
Ataxia, Hypoalbuminemia |
OMIM:251300 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Trichohepatoenteric Syndrome 1 |
|
Cognitive impairment, Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, ... |
OMIM:222470 |
| Wilson Disease |
|
Hypouricemia, Dementia, Increased circulating copper concentration, Hyperbilirubinemia, Decreased... |
OMIM:277900 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia |
ORPHA:79324 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Hypoalbuminemia |
ORPHA:505248 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Marburg Hemorrhagic Fever |
|
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... |
ORPHA:99826 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Hypoa... |
ORPHA:37042 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, H... |
ORPHA:90363 |
| Insulin-Resistance Syndrome Type B |
|
Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid co... |
ORPHA:2298 |
| Primary Sclerosing Cholangitis |
|
Depression, Hypoalbuminemia |
ORPHA:171 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Smith-Lemli-Opitz Syndrome |
|
Self-mutilation, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Aggressive behavior, Hypoalb... |
OMIM:270400 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... |
OMIM:619534 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminemia |
ORPHA:79318 |
