| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta... |
OMIM:612526 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Lipodystrophy, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Granulo... |
OMIM:619858 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly |
ORPHA:2398 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
| Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils |
ORPHA:154 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Short stature, Generalized lipodystrophy, Intrauterine growth retardat... |
ORPHA:50811 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:618048 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Growth delay, Truncal obesity, Insulin resistance, Delayed puberty |
ORPHA:140941 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:79085 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... |
ORPHA:2348 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
| Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... |
ORPHA:1133 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop... |
OMIM:617591 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... |
ORPHA:528 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Short stature, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Abnormal immunoglo... |
ORPHA:90159 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr... |
OMIM:615238 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... |
OMIM:613913 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Growth delay, Anemia, Elevated hepatic iron concentration, Increase... |
OMIM:614946 |
| Stiff Skin Syndrome |
|
Short stature, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Small for gestational age, Congenital generalized lipodystrophy, Generalized lipod... |
OMIM:608154 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
ORPHA:280365 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... |
OMIM:269880 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He... |
OMIM:248370 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodys... |
OMIM:619183 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Hepatos... |
ORPHA:39812 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Severe short stature, Lipodystrophy, Short stature, Diabetes... |
OMIM:270450 |
| Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... |
ORPHA:3163 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:608594 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Short stature, Diabetes mellitus, Microcytic anemia, Hepatos... |
ORPHA:168569 |
| Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus, Short stature |
ORPHA:2833 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Paraproteinemia, Lipodystrophy |
ORPHA:329918 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Increased circu... |
ORPHA:2298 |
| Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Short stature, Hepatocellular carcinoma, Elbow flexion contracture, Decreased body... |
OMIM:616200 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
| Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Weight loss, Lymphadenopathy, Increased circulating antibody le... |
ORPHA:2905 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
| Congenital Short Bowel Syndrome |
|
Lipoatrophy, Short stature |
ORPHA:2301 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lack of facial subcutaneous fat, Lymphadenitis,... |
ORPHA:90156 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Moderate postnatal growth retardation, Glycosuria, H... |
ORPHA:69076 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lipodystrophy, Short stature, Flexion contracture, Atypical scarring of skin, Growth delay, Atrop... |
ORPHA:75496 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration... |
OMIM:619991 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Lipoatrophy |
ORPHA:261304 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Werner Syndrome |
|
Lipoatrophy, Short stature, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Slender... |
ORPHA:902 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Short stature, Umbilical hernia, Intrauterine g... |
ORPHA:2963 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Acrogeria |
|
Lipoatrophy, Short stature |
ORPHA:2500 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated... |
OMIM:617253 |
| Alg3-Cdg |
|
Arthrogryposis multiplex congenita, Lipodystrophy, Decreased liver function |
ORPHA:79321 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, Abnormal subcutaneou... |
ORPHA:357074 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... |
OMIM:214150 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity |
OMIM:617885 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Intrauterine growth retardation, Inguinal hernia, Failure to thrive, Lipodystrophy |
OMIM:219200 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... |
ORPHA:125 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Placental Insufficiency |
|
Intrauterine growth retardation, Insulin resistance, Small for gestational age, Proportionate sho... |
ORPHA:439167 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Abnormal circulating lipid concentration, Short stature, Diabetes mellitus, Insu... |
OMIM:616541 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed... |
ORPHA:90154 |
| Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph... |
OMIM:609981 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi... |
OMIM:300868 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Short stature, Cellulitis |
OMIM:266265 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... |
OMIM:308240 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Finger joint contracture |
OMIM:212112 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... |
OMIM:606843 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Lymphopeni... |
OMIM:618986 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st... |
ORPHA:436182 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Mediastinal lymphadenopat... |
ORPHA:3452 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Lipodystrophy, Short stature |
OMIM:618922 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Lipoatrophy |
ORPHA:349 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Short stature, Abnormality of the tonsi... |
ORPHA:47 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... |
ORPHA:169154 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Pancytopenia, Severe short stature, Small for gestational age |
OMIM:210740 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Short stature, Impaired glucose tolerance, Insulin resistanc... |
ORPHA:769 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, Decreased circulating total IgM, B lymphocytopenia, Thro... |
OMIM:619281 |
| De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, Umbilical hernia, Fa... |
ORPHA:2962 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... |
OMIM:304790 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Immunodeficiency 91 And Hyperinflammation |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
| Silver-Russell Syndrome |
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Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Insulin resi... |
ORPHA:813 |
| Keppen-Lubinsky Syndrome |
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Failure to thrive, Lipodystrophy, Postnatal growth retardation, Flexion contracture, Congenital g... |
ORPHA:435628 |
| Wolcott-Rallison Syndrome |
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Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Monosomy 13Q34 |
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Hypercalcemia, Insulin resistance, Obesity, Growth delay, Hepatic steatosis |
ORPHA:96168 |
| Becker Nevus Syndrome |
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Lipoatrophy |
ORPHA:64755 |
| Aicardi-Goutières Syndrome |
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Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Short stature, Diabetes ... |
ORPHA:51 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Ane Syndrome |
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Multiple joint contractures, Lipoatrophy, Short stature, Delayed puberty |
ORPHA:157954 |
| Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Short stature, Insulin resistance, Growth delay, Intrauterin... |
OMIM:619322 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat, Generalized lipody... |
OMIM:616914 |
| Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Leprechaunism |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Decreased body weight, Postnatal growth retard... |
ORPHA:508 |
| Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Fanconi Anemia, Complementation Group V |
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Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... |
OMIM:617243 |
| Dpagt1-Cdg |
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Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Flexion contracture, Camptodactyly, F... |
ORPHA:86309 |
| Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Hemolytic anemia, Hepatomegaly, Dysgammaglobulinemia, Increased ... |
OMIM:308230 |
| Diamond-Blackfan Anemia 4 |
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Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
| Gitelman Syndrome |
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Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,... |
ORPHA:358 |
| Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Aromatase Deficiency |
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Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Growth delay, Type II diabetes me... |
ORPHA:91 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
| Alg9-Cdg |
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Omphalocele, Hepatomegaly, Rhizomelia, Lipodystrophy, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
| Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Short stature, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hype... |
OMIM:262190 |
| Atypical Werner Syndrome |
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Failure to thrive, Hypertriglyceridemia, Short stature, Lipoatrophy, Diabetes mellitus, Insulin-r... |
ORPHA:79474 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Lipodystrophy |
ORPHA:300751 |
| Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ... |
ORPHA:829 |
| Wrinkly Skin Syndrome |
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Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, High nonceruloplasmi... |
ORPHA:2834 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
| Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Postnatal growth retardation, Insulin resistance, Severe intrauterine ... |
ORPHA:96182 |
| Nestor-Guillermo Progeria Syndrome |
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Lipoatrophy, Short stature, Flexion contracture, Growth delay, Failure to thrive |
OMIM:614008 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
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Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
| Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
| Sweet Syndrome |
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Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated... |
ORPHA:3243 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Flexion contracture, Short stature |
ORPHA:90153 |
| Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
| Relapsing Fever |
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Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
| Premature Aging Syndrome, Penttinen Type |
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Failure to thrive, Lipoatrophy, Keloids, Joint contracture, Flexion contracture of finger |
OMIM:601812 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Multiple lipomas, Abnormality of the lymphatic system, Lipoatrophy |
ORPHA:276280 |
| Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Obesity, Truncal obesity, Abdom... |
OMIM:209900 |
| Immunodeficiency 55 |
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Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
| Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... |
OMIM:614098 |
| Encephalocraniocutaneous Lipomatosis |
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Multiple lipomas, Lipodystrophy |
ORPHA:2396 |
| Staphylococcal Necrotizing Pneumonia |
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Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
| Pearson Syndrome |
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Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
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Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... |
OMIM:612852 |
| Barber-Say Syndrome |
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Lipodystrophy |
OMIM:209885 |
| Herpes Simplex Virus Encephalitis |
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Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
| Thalidomide Embryopathy |
|
Insulin resistance, Short stature |
ORPHA:3312 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto... |
ORPHA:3455 |
| Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Short stature, Small for ... |
OMIM:264090 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Short stature, Scarring, Small for gestational age, Microcytic anemia... |
ORPHA:99843 |
| Neonatal Marfan Syndrome |
|
Small for gestational age, Flexion contracture, Lipoatrophy |
ORPHA:284979 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... |
ORPHA:79318 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit... |
ORPHA:3260 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hyperchol... |
ORPHA:273 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Absence of subcutaneous fat, Weight loss, Severe failure to thrive, Delayed m... |
ORPHA:740 |
| Alström Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Portal hypertension, Insulin re... |
ORPHA:64 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir... |
ORPHA:99829 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Elevated circulating creatine kinas... |
ORPHA:99827 |
