Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride... |
OMIM:246700 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Alg6-Cdg |
|
Failure to thrive, Retinal degeneration, Scoliosis, Decreased LDL cholesterol concentration, Hypo... |
ORPHA:79320 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... |
ORPHA:103910 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Hypoalbuminemia |
ORPHA:79327 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Scoliosis, Hypoalbuminemia |
OMIM:619013 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Short neck, Camptodactyly, Elevated circulating creatinine concentration, Hypo... |
OMIM:608104 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Failure to thrive, Cachexia, Scoliosis, Enamel hypoplasia, Absence of subcutane... |
OMIM:610965 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Immunodeficiency 27A |
|
Weight loss, Hypoalbuminemia |
OMIM:209950 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... |
OMIM:242150 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:398063 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Eosinophilic Gastroenteritis |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Leishmaniasis |
|
Weight loss, Hypoalbuminemia |
ORPHA:507 |
Ménétrier Disease |
|
Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia, Flexion contracture |
ORPHA:367 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Short neck, Hypoalbuminemia, Flexion contracture |
OMIM:617303 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Scoliosis, Optic atrophy, Hypoalbuminemia, Weight loss |
OMIM:619487 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Alg12-Cdg |
|
Failure to thrive, Abnormal adipose tissue morphology, Retinal detachment, Scoliosis, Camptodacty... |
ORPHA:79324 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Kyphosis, Flexion contracture, Hypocholesterolemia, Hypoalbuminemia, Abnormal ... |
OMIM:212065 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Abnormality of retinal pigmentation, Flexion contracture, Short neck, Optic... |
ORPHA:505248 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Scoliosis, Spina bifida occulta, Camptodactyly, Hypoalbuminemia, U... |
OMIM:235510 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... |
ORPHA:89842 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Optic atrophy |
OMIM:618329 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Abnormality... |
ORPHA:14 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... |
ORPHA:86839 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Cellulitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Joint contracture of the hand, Small for gestational age, Camptodactyly, Optic atr... |
OMIM:251300 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Hypoalbuminemia |
ORPHA:67 |
Al Amyloidosis |
|
Weight loss, Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Cachexia, Decreased prealbumin level, Abnormal blood ion concentrat... |
ORPHA:37042 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Enamel hypoplasia, Hypoalbuminemia, Atrophic scars, Scarring |
ORPHA:79396 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ... |
ORPHA:2298 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Chondrocalcinosis, Hypouricemia, ... |
OMIM:277900 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Small for gestational age, Hypermethioninemia, Abnormality of iron homeostasis... |
OMIM:222470 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Small for gestational age, Scoli... |
OMIM:613658 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Juvenile Polyposis Of Infancy |
|
Subcutaneous lipoma, Cachexia, Hypoalbuminemia |
ORPHA:79076 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... |
ORPHA:90363 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia, Weight loss |
ORPHA:88673 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Back pain, Hyperammonemia, Elevated circulating creatine kinase concentration, Eleva... |
ORPHA:99826 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia, Sacral di... |
OMIM:270400 |
Primary Sclerosing Cholangitis |
|
Weight loss, Hypoalbuminemia |
ORPHA:171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated circulating creatine ki... |
OMIM:614643 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Inguinal her... |
OMIM:619534 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia |
OMIM:619381 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... |
ORPHA:91495 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... |
OMIM:609049 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Osteogenesis Imperfecta |
|
Kyphosis, Dentinogenesis imperfecta, Inguinal hernia, Flexion contracture, Small for gestational ... |
ORPHA:666 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Kyphoscoliosis, Platyspondyly, Lipodystrophy, Hyp... |
ORPHA:79318 |
Myhre Syndrome |
|
Small for gestational age, Short neck, Platyspondyly, Enlarged vertebral pedicles, Camptodactyly,... |
OMIM:139210 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Decreased body weight, Remnants... |
OMIM:300166 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Scoliosis, Iris coloboma, Cyclopia, Chorioretinal coloboma |
OMIM:157170 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Sacral dimple, Umbilical hernia, Lens col... |
OMIM:619539 |
Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Norrie Disease |
|
Failure to thrive, Remnants of the hyaloid vascular system, Cachexia, Retinal detachment, Scolios... |
ORPHA:649 |