Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Decreased fibular diameter, Fasting hyperinsulinemia, Increased ins... |
OMIM:619489 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... |
ORPHA:71529 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Osteopenia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Hypersplenism, Hy... |
OMIM:610539 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... |
OMIM:620211 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Small for gestational age, Large ... |
ORPHA:324575 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... |
OMIM:604367 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Inc... |
ORPHA:276575 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to thrive, Hypoalbu... |
OMIM:613752 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... |
ORPHA:276580 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... |
ORPHA:2457 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Failu... |
ORPHA:79320 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Hypoplasia of the femoral head, Thromboc... |
OMIM:209950 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... |
ORPHA:171706 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age, Hyperinsulinemic hypo... |
OMIM:601820 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistanc... |
OMIM:617885 |
Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Hyperinsu... |
OMIM:248370 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... |
OMIM:608612 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Incre... |
ORPHA:276556 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Increased C... |
ORPHA:528 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Anemia, Hypoalbuminemia |
OMIM:603278 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... |
OMIM:616050 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... |
ORPHA:2298 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed puberty, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL choles... |
OMIM:616834 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia |
OMIM:614441 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Microcytic anemia, Hypertriglyceridemia, Hypothyroidism, Ara... |
OMIM:619013 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypogly... |
OMIM:232700 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Small for gestational age, Hypergalactosemia, Increased level of galactitol i... |
ORPHA:79237 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71526 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:179494 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyper... |
OMIM:616033 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hyperinsulinemi... |
OMIM:151660 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Neonatal hypoglycemia, Elevated circulating growth hormone concentration, Multiple pancreatic bet... |
ORPHA:79644 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Failure to thrive, Thrombocytopenia, Monocytopeni... |
OMIM:226990 |
Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Os... |
ORPHA:398063 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia, Obesity |
OMIM:608320 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Congenital Analbuminemia |
|
Hypoproteinemia, Small for gestational age, Lipodystrophy, Obesity, Hyperlipidemia, Increased alp... |
ORPHA:86816 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased... |
OMIM:618347 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... |
ORPHA:507 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... |
OMIM:308240 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Failure to thrive |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 1 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Hyperglycemia, ... |
OMIM:608600 |
Mody |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overweight, Glycosuria, Diabet... |
ORPHA:552 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Increased body weight, Pancreatic islet-cell hyperplasia, Reactive hypoglyc... |
ORPHA:276608 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Steatorrhea, Eosinophilia, Elevated circulating C-reactive protein concentr... |
ORPHA:2070 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Lymphopenia, Hypertriglyceridemia, Adrenal insufficiency, Hypothyroidism, Hypoglyce... |
OMIM:617575 |
Nephrotic Syndrome, Type 11 |
|
Partial duplication of thumb phalanx, Clinodactyly, Arachnodactyly, Hypercholesterolemia, Hypoalb... |
OMIM:616730 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... |
OMIM:266510 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Neutropenia... |
ORPHA:1667 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hypertriglyce... |
ORPHA:363400 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Anemia, Decreased circulating T4 concentration, Failure to thrive, Thrombocytopeni... |
OMIM:608104 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... |
ORPHA:158061 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... |
OMIM:618156 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Sple... |
OMIM:607765 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy |
ORPHA:79084 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Increased body weight, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... |
OMIM:618858 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Splenomegaly, Hy... |
OMIM:612526 |
Alg12-Cdg |
|
Camptodactyly, Abnormal adipose tissue morphology, Overlapping fingers, Proximal placement of thu... |
ORPHA:79324 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Truncal obesity, Nonketotic hy... |
ORPHA:293964 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... |
OMIM:615558 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... |
OMIM:603553 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Brachydactyly, Short toe, Type II diabetes mell... |
ORPHA:3085 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Clubbing, Anemia, Hypothyroidism, Clubbing of fingers, Thrombocytosis, Iron defi... |
OMIM:226300 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy... |
OMIM:262190 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... |
OMIM:606176 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... |
OMIM:240900 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Elevated plasma citrulline, Hyp... |
ORPHA:247585 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volum... |
OMIM:617021 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hyperinsulinemia, Hypertrigl... |
ORPHA:79086 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Diabetes insipidus, Abe... |
ORPHA:96180 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hypocholesterolemia, Small for gestational age, Failure to thrive |
OMIM:610883 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... |
ORPHA:97279 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hypothyroidism, Umbilical hernia, Failure to thrive... |
ORPHA:99886 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Osteoporosis, Elevated circulating creatine kinase concentration, Hyperinsulinemia... |
OMIM:613327 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Steatorrhea, Osteopenia, Failure to thrive, Abnormal subcutaneous fat tissue dist... |
OMIM:212065 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... |
ORPHA:292 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Estrogen Resistance Syndrome |
|
Osteoporosis, Osteopenia, Hyperinsulinemia, Delayed epiphyseal ossification, Glucose intolerance,... |
ORPHA:785 |
Bangstad Syndrome |
|
Deviation of finger, Increased circulating cortisol level, Primary gonadal insufficiency, Abnorma... |
ORPHA:1227 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... |
ORPHA:71212 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... |
OMIM:618963 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... |
ORPHA:90362 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... |
ORPHA:86839 |
Mucopolysaccharidosis-Plus Syndrome |
|
Clubbing, Leukopenia, Anemia, Metaphyseal widening, Neutropenia, Flared iliac wing, Thrombocytope... |
OMIM:617303 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Failure to thrive, Increased serum bile acid concentr... |
OMIM:242150 |
Estrogen Resistance |
|
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Increased s... |
OMIM:615363 |
Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Fa... |
ORPHA:14 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... |
ORPHA:540 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Decr... |
OMIM:617093 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hyperbilirubinemia, Thro... |
OMIM:251880 |
Chylomicron Retention Disease |
|
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:71 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... |
ORPHA:88618 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentrat... |
OMIM:619055 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Bdv Syndrome |
|
Delayed puberty, Decreased serum testosterone concentration, Reduced TSH response to thyrotrophin... |
OMIM:619326 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... |
ORPHA:454836 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Short 5th metacarpal, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Leukocytosis, Liver abscess, Anemia, Weight loss, Hypoalbuminemia |
ORPHA:67 |
Alstrom Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Multinodular goiter, Truncal obesity, Diabetes ins... |
OMIM:203800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... |
ORPHA:37042 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Lipodystrophy, Diabetes mellitus, Umbilical hernia, Hyperinsulinemia, Cystic angiomatosis of bone... |
OMIM:608594 |
Perlman Syndrome |
|
Femoral hernia, Inguinal hernia, Hyperinsulinemia |
ORPHA:2849 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Lipodystrophy, Umbilical hernia, Hyperinsulinemia, Cystic angiomatosis of bone, Hypertriglyceride... |
OMIM:269700 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Flexion contracture, Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hemolytic anemia, Anemia, Osteoporosis, Failure to thrive, Hypothyroidism, We... |
OMIM:619487 |
Donohue Syndrome |
|
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic islet-cell hype... |
OMIM:246200 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hypoalbuminemia |
OMIM:618329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Camptodactyly, Coronal craniosynostosis, Umbilical hernia, Thyroid lymphangiectasia, Joint contra... |
OMIM:235510 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Delayed puberty, Decreased serum zinc, Anemia, Abnormal circulating selenium concentration, Failu... |
ORPHA:89842 |
Juvenile Polyposis Syndrome |
|
Clubbing, Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... |
ORPHA:36234 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Wilson Disease |
|
Chondrocalcinosis, Glycosuria, Hemolytic anemia, Hypouricemia, Anemia, Osteoporosis, Hypoparathyr... |
OMIM:277900 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Decreased circulating ACTH level, Hyperglycem... |
OMIM:615954 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Small for gestational age, Reduced bone mineral density, Slender build, Inguinal hernia,... |
OMIM:613658 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Failure to thrive, Hyperbili... |
OMIM:617156 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Inguin... |
OMIM:175700 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypoplasia, Failure to thrive, Hy... |
OMIM:610965 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... |
OMIM:200700 |
Secondary Intestinal Lymphangiectasia |
|
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... |
ORPHA:90363 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... |
ORPHA:75508 |
Hepatocellular Carcinoma |
|
Polycythemia, Liver abscess, Anemia, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopen... |
ORPHA:88673 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Polydactyly... |
ORPHA:769 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Hypernatremia, Failure to thrive, Hypoalbuminemia |
OMIM:615508 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Juvenile Polyposis Of Infancy |
|
Broad phalanx of the toes, Anemia, Refractory anemia, Cachexia, Clubbing of fingers, Broad thumb,... |
ORPHA:79076 |
Galloway-Mowat Syndrome 3 |
|
Camptodactyly, Hip dislocation, Hiatus hernia, Failure to thrive, Arachnodactyly, Hypoalbuminemia |
OMIM:617729 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Abnormality of the thyroid gland, Osteoporosis, Conjuga... |
ORPHA:186 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnese... |
OMIM:618183 |
Prader-Willi Syndrome |
|
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Osteoporosis, Osteopenia, Short palm, Short foo... |
OMIM:176270 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity, Hypertriglyceridemia... |
OMIM:615812 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia |
ORPHA:2089 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Anemia, Enamel hypoplasia, Failure to thrive, Scarring, Atrophic scars, Hypoalb... |
ORPHA:79396 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Atypical Werner Syndrome |
|
Delayed puberty, Hip dysplasia, Generalized lipodystrophy, Diabetes mellitus, Fasting hyperinsuli... |
ORPHA:79474 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... |
OMIM:607778 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... |
OMIM:222765 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia |
OMIM:222100 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Hypoglycemia, Elevat... |
ORPHA:230 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Avascular necrosis of the capital femoral epiphysis, Hypermethioninemi... |
OMIM:222470 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Abnormali... |
ORPHA:2019 |
Al Amyloidosis |
|
Anemia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Howell-Jolly bodies, Weig... |
ORPHA:85443 |
Familial Renal Glucosuria |
|
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... |
ORPHA:69076 |
Galloway-Mowat Syndrome 1 |
|
Camptodactyly, Small for gestational age, Hiatus hernia, Slender finger, Joint contracture of the... |
OMIM:251300 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Osteoporosis, Histiocytosis, Osteopenia, Weight loss, Type I diabetes mellitu... |
ORPHA:171 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Hypogonadism, Decreased response to growth hormone stimulation test, Osteopenia,... |
ORPHA:3464 |
Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Hip dislocation, Short thumb, Proximal placement of thumb, Overlappin... |
OMIM:270400 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Hyp... |
ORPHA:231222 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly |
OMIM:601438 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Rickets, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes... |
ORPHA:2088 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Increased bone mineral density, Hyperuricemia, Lateral femoral bowing, Hydroxyprol... |
OMIM:239000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hernia, Flexion contracture, Hypoalbumi... |
ORPHA:505248 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hyperammonemia, Reticulocytosis, Leukopenia, Abnormal lymp... |
ORPHA:99826 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia, Reduced C-peptide level, Hypog... |
ORPHA:2126 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... |
OMIM:619598 |
Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... |
ORPHA:508 |
Tangier Disease |
|
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia |
ORPHA:31150 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Irregular capital femoral epiphysis, Short femoral neck, Meta... |
OMIM:616716 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Abnormal metacarpophalangeal joint morphology, Decreased serum t... |
ORPHA:465508 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Failure to thrive, Metatarsus adductus, Hypocholesterolemia, Clinodac... |
OMIM:244450 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... |
OMIM:171480 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomalacia, T lymphocytopenia, Decreased proportion ... |
OMIM:619381 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... |
OMIM:184253 |
Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Syndactyly, Hypocholesterolemia, ... |
OMIM:223370 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obesity, Syndact... |
OMIM:615986 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Panniculitis, Elevated circulating C-r... |
OMIM:617099 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Short metacarpal, Deformed humeral heads, Brachydactyly, Genu... |
ORPHA:2831 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Hip dysplasia, Hyperinsulinemia, Short toe, Short 5th metacarpal, Short sternum,... |
ORPHA:99226 |
Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... |
OMIM:186500 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
X-Linked Acrogigantism |
|
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:300373 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Aplasia/Hypoplasia of... |
ORPHA:2878 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Postaxial hand polydactyly, Hypothyroidism, Aplasia/Hypoplasia of the ulna, Split ... |
ORPHA:2491 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, Hip dislocation, Dislocated radial head, Hypoplastic scapulae, Flared metaphysis, ... |
OMIM:602471 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... |
ORPHA:453533 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Leukocytosis, Hyperglycemia, Hypothyroidism, Hypercholesterolemia |
ORPHA:90065 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... |
OMIM:207750 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... |
OMIM:300908 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Camptodactyly, Hyposegmentation of neutrophil nuclei, Metaphyseal cupping, Knee flexion contractu... |
OMIM:618019 |
Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Hyperglycemia, Thrombocytopenia, Abnormal glucose homeos... |
ORPHA:391673 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Inguinal hernia, Polydactyly, Postaxial polydactyly, Anterior pituitary h... |
OMIM:619534 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small for gestational age, Short tibia, Failure to thrive, Short femur, Hypocalcem... |
OMIM:607143 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Wrist flexion contracture, Osteopenia, Failure to thrive, Bowed ... |
OMIM:609465 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short humerus, Absent radius, Absent thumb, Phocomelia, Abnormal carpal morp... |
OMIM:142900 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short tibia, Hypopla... |
OMIM:620076 |
Atelis Syndrome 2 |
|
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... |
OMIM:620185 |
Pmm2-Cdg |
|
Lipodystrophy, Elevated circulating growth hormone concentration, Reduced thyroxin-binding globul... |
ORPHA:79318 |
Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Ulnar bowing, Sho... |
OMIM:211350 |
Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... |
OMIM:616507 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia, Clinodactyly of the 4th finger |
ORPHA:79134 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Short clavicles, Bowed humerus, Congenital diaphragmatic hernia, Hypoplasti... |
OMIM:618022 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... |
ORPHA:273 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Liver Disease, Severe Congenital |
|
Hypoproteinemia, Inguinal hernia, Hyperammonemia, Leukopenia, Abnormal circulating thyroid hormon... |
OMIM:619991 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Leukopenia, Anemia, Neutropenia, Short metacarpal, Reticulocytopenia, Lymphopenia,... |
ORPHA:508542 |
Atelosteogenesis, Type I |
|
Short finger, Short humerus, Club-shaped proximal femur, Clubbing, Short metatarsal, Short metaca... |
OMIM:108720 |
Occipital Horn Syndrome |
|
Short humerus, Hiatus hernia, Osteoporosis, Decreased circulating copper concentration, Pelvic bo... |
OMIM:304150 |
Cranioectodermal Dysplasia 1 |
|
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Inguinal he... |
OMIM:218330 |
Tenorio Syndrome |
|
Osteopenia, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Omodysplasia 2 |
|
Short humerus, Dislocated radial head, Broad femoral neck, Fibular hypoplasia, Hypoplastic distal... |
OMIM:164745 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Inguinal hernia, Short 5th finger, Hypoplasia of the radius, Anterior pituitary ... |
OMIM:181450 |
Acro-Renal-Ocular Syndrome |
|
Short humerus, Radial club hand, Short thumb, Finger syndactyly, Short distal phalanx of the thum... |
ORPHA:959 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed humerus, Bifid first metacarpal... |
OMIM:210710 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
Codas Syndrome |
|
Short humerus, Congenital hip dislocation, Proximal placement of thumb, Delayed ossification of c... |
OMIM:600373 |
Pancreatic And Cerebellar Agenesis |
|
Anemia, Diabetes mellitus, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipose tissue,... |
OMIM:609069 |
Cono-Spondylar Dysplasia |
|
Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th... |
ORPHA:420794 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Short 1st metacarpal, Short palm |
ORPHA:93328 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Melnick-Needles Syndrome |
|
Short humerus, Short distal phalanx of finger, Hip dislocation, Coxa valga, Hypoplastic scapulae,... |
OMIM:309350 |
Duane-Radial Ray Syndrome |
|
Short humerus, Absent radius, Short thumb, Preaxial polydactyly, Absent thumb, Aplasia of metacar... |
OMIM:607323 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Capitate-hamate fusion, Short metacarpal, Enamel hypoplasi... |
OMIM:272460 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Polydactyly, Methylmalonic acidemia, Failure to thrive, Short femur, Flexion contr... |
ORPHA:17 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Small pituitary gland, Short long bone, Bowed humerus, Flexion con... |
OMIM:619479 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Hy... |
ORPHA:3455 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hand polydactyly, Absent radius, Proximal placement of thumb |
OMIM:314390 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Abnormality... |
ORPHA:2968 |
Alström Syndrome |
|
Truncal obesity, Hyperinsulinemia, Puberty and gonadal disorders, Elevated circulating thyroid-st... |
ORPHA:64 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Short tubular bones of t... |
ORPHA:56305 |
Femoral-Facial Syndrome |
|
Short humerus, Short fifth metatarsal, Maternal diabetes, Inguinal hernia, Short fourth metatarsa... |
OMIM:134780 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Short humerus, Small for gestational age, Hypoplastic ilia, Increased s... |
OMIM:264090 |
Catel-Manzke Syndrome |
|
Short humerus, Camptodactyly, Inguinal hernia, Umbilical hernia, Short metacarpal, Short femur, H... |
OMIM:616145 |
Baller-Gerold Syndrome |
|
Craniosynostosis, Forearm undergrowth, Oligodactyly, Patellar aplasia, Short humerus, Absent radi... |
OMIM:218600 |
Roberts-Sc Phocomelia Syndrome |
|
Aplasia of the ulna, Short humerus, Craniosynostosis, Absent radius, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Ulbright-Hodes Syndrome |
|
Short humerus, Maternal diabetes, Abnormal forearm bone morphology, Phocomelia, Hypoplasia of the... |
ORPHA:3404 |
Omodysplasia 1 |
|
Short humerus, Anterolateral radial head dislocation, Umbilical hernia, Short tibia, Hypoplastic ... |
OMIM:258315 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Elbow flexion contracture, Calcaneal epiphyseal stippl... |
OMIM:117650 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |