| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... |
OMIM:612526 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... |
OMIM:613877 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... |
OMIM:608600 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... |
ORPHA:79084 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, H... |
ORPHA:79085 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Obesity, I... |
OMIM:615703 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Increased circulating antibody level |
OMIM:235900 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:619220 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... |
OMIM:151660 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... |
OMIM:615381 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Recurre... |
OMIM:619858 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... |
ORPHA:528 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level |
OMIM:619773 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... |
ORPHA:363400 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyce... |
ORPHA:436182 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... |
OMIM:618534 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... |
ORPHA:79083 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Bronchiectasis, Decreased specific pneumococcal antibody level, Increased circulating IgM level, ... |
OMIM:615513 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Los... |
ORPHA:2348 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Hypertension |
ORPHA:1879 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:601859 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus |
OMIM:608320 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... |
ORPHA:280365 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... |
OMIM:618982 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... |
ORPHA:99886 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Eczematoid derm... |
ORPHA:98813 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ... |
ORPHA:1979 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture |
OMIM:618856 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... |
ORPHA:397596 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... |
OMIM:617241 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Pressure-Induced Localized Lipoatrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90160 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Decreased activity of mitochondrial compl... |
OMIM:613642 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... |
OMIM:616033 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... |
OMIM:613027 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Generalized lipodystrophy, Small for gestational age, Failure to thrive |
ORPHA:50811 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Lipodystrophy |
OMIM:305800 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of facial adipose tissue, Loss of ... |
OMIM:613913 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy, Vasculitis in the ... |
ORPHA:90159 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Cardiomegaly, Adrenocortical c... |
OMIM:130650 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:245400 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Drug-Induced Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90157 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... |
OMIM:619707 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... |
OMIM:608612 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypers... |
OMIM:603909 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyce... |
OMIM:603552 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Lipoatrophy, Congestive heart failure |
ORPHA:141184 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Hypertrichosis, Cholestasis, Hy... |
OMIM:246200 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... |
ORPHA:154 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia |
OMIM:615026 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Sple... |
OMIM:617591 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:618459 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:619048 |
| Immunodeficiency 27A |
|
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Rheumatoid factor positive,... |
OMIM:209950 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Multiple lipomas, Lipodystrophy, Elevated circulating creatine kinase concentration |
OMIM:151800 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Fever, Elevated circulating creatinine concentr... |
OMIM:617872 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Fever, Hypertriglyceridemia |
OMIM:608898 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... |
OMIM:308230 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... |
OMIM:615615 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:608594 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Recurrent fever, Increased circulating ferritin concentration, Fever, Splenomegaly, Hy... |
OMIM:300635 |
| Stiff Skin Syndrome |
|
Short stature, Abnormal circulating lipid concentration, Type II diabetes mellitus, Lipoatrophy |
ORPHA:2833 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Intrauterine growth retardation, Typ... |
ORPHA:1133 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... |
OMIM:618495 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... |
OMIM:618048 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... |
ORPHA:90280 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... |
OMIM:608776 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss... |
OMIM:269700 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypothermia, Umbilical hernia |
ORPHA:95717 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... |
OMIM:606069 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... |
ORPHA:2849 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... |
ORPHA:26792 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Eczematoid dermatitis |
OMIM:300988 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... |
OMIM:618400 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Obesity, Intrauterine growth retardation, Hypercholesterole... |
OMIM:616222 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Hypercholesterolemia, Second... |
OMIM:301033 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Growth delay, Glycosuria, Failure to thrive, Elevate... |
ORPHA:2088 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Fever, Hyponatremia, Weight loss, Anorexia |
ORPHA:178029 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:159 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98855 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Lipodystrophy, Hypertension |
ORPHA:329918 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Recurrent fever, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenom... |
OMIM:613101 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia |
ORPHA:318 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Recurrent sinusitis, Furuncle, Decreased circulating total IgM, ... |
OMIM:618969 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Decreased activity of mitochondrial complex I, Decreased activity... |
OMIM:615917 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
| Immunodeficiency 114, Folate-Responsive |
|
Recurrent fever, Increased circulating ferritin concentration, Postnatal growth retardation, Sple... |
OMIM:620603 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, H... |
ORPHA:465508 |
| Zika Virus Disease |
|
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... |
ORPHA:448237 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Hypothermia, Decreased level of coenzyme Q10 in skeletal muscle,... |
OMIM:614654 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Fever |
ORPHA:30925 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Generalized lipodystrophy, Slender build, Intrauterine growth retardation, Con... |
OMIM:608154 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Anti-liver cytosolic ant... |
ORPHA:2137 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... |
OMIM:269880 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... |
ORPHA:263455 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Fulminant hepatitis, Infec... |
OMIM:308240 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar... |
OMIM:619281 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis |
OMIM:314000 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... |
OMIM:615767 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98853 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Pannicul... |
OMIM:618398 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis |
OMIM:193670 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| H Syndrome |
|
Recurrent fever, Hepatosplenomegaly, Hernia, Lipodystrophy, Short stature, Delayed puberty, Hyper... |
ORPHA:168569 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Otitis media, Sinusitis |
OMIM:312863 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... |
OMIM:619013 |
| Idiopathic Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90158 |
| Papa Syndrome |
|
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... |
ORPHA:69126 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... |
OMIM:607594 |
| Ruijs-Aalfs Syndrome |
|
Hypogonadism, Elbow flexion contracture, Decreased body weight, Lipodystrophy, Hepatocellular car... |
OMIM:616200 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:618329 |
| Alg3-Cdg |
|
Decreased liver function, Cardiomyopathy, Lipodystrophy, Abnormality of the endocrine system, Art... |
ORPHA:79321 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Lipodystrophy, Telangiectasia of th... |
OMIM:212112 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... |
ORPHA:277 |
| Glycogen Storage Disease Ixb |
|
Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Shor... |
OMIM:261750 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep... |
OMIM:619386 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Polyarticular arthritis, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Punctate k... |
OMIM:617388 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
ORPHA:42 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
| Seckel Syndrome 10 |
|
Insulin resistance, Severe short stature, Glycosuria, Elevated circulating aspartate aminotransfe... |
OMIM:617253 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... |
ORPHA:85435 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Skin rash, Maculopapular exanthema |
ORPHA:83313 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... |
OMIM:212140 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Increased circula... |
OMIM:616005 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Congestive heart failure, Hypogonadism, Slender build, Thy... |
ORPHA:902 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Abnormal circulating thyroglobulin co... |
ORPHA:95716 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Postnatal growt... |
ORPHA:73272 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Unexplained fevers, Growth delay, Failure to thrive, Elevated circulating aspartate aminotransfer... |
OMIM:614727 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,... |
OMIM:615710 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... |
OMIM:616100 |
| Neutral Lipid Storage Disease With Myopathy |
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Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
| Mpi-Cdg |
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Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Failure to thrive, Decreased live... |
ORPHA:79319 |
| Short Syndrome |
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Insulin resistance, Severe short stature, Abnormal dental enamel morphology, Inguinal hernia, Lip... |
ORPHA:3163 |
| Cimdag Syndrome |
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Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
| Immunodeficiency 102 |
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Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... |
OMIM:609812 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Recurrent fever, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive pro... |
OMIM:617099 |
| Insulin-Like Growth Factor I, Resistance To |
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Severe short stature, Growth delay, Intrauterine growth retardation, Reduced subcutaneous adipose... |
OMIM:270450 |
| Pancreatic And Cerebellar Agenesis |
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Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:609069 |
| Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level |
OMIM:300076 |
| Congenital Disorder Of Glycosylation, Type Iir |
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Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Citrullinemia Type Ii |
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Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Idiopathic Copper-Associated Cirrhosis |
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Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Insulinoma |
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Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Familial Cervical Artery Dissection |
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Abnormality of connective tissue, Transient ischemic attack, Cerebral ischemia, Subarachnoid hemo... |
ORPHA:36382 |
| Abdominal Obesity-Metabolic Syndrome 4 |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... |
OMIM:618620 |
| Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Elevated circulat... |
OMIM:227810 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... |
OMIM:243700 |
| D-Glyceric Aciduria |
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Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul... |
OMIM:618523 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... |
ORPHA:247598 |
| Preeclampsia/Eclampsia 1 |
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Elevated circulating hepatic transaminase concentration, Hypertension |
OMIM:189800 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis, Short... |
ORPHA:90154 |
| Complement Component C1R/C1S Deficiency |
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Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis |
OMIM:216950 |
| Carnitine Palmitoyltransferase I Deficiency |
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Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Poems Syndrome |
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Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... |
ORPHA:2905 |
| Immunodeficiency 105 |
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Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... |
OMIM:619924 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Lipodystrophy, Familial Partial, Type 7 |
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Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... |
OMIM:606721 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Pneumonia, Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Bronchiec... |
OMIM:242860 |
| Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... |
OMIM:618394 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypertrophic cardiomyopathy, Left ventricular noncompaction, Decreased activity of mitochondrial ... |
OMIM:616501 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
| Cystinosis |
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Type I diabetes mellitus, Polydipsia, Failure to thrive, Fever, Rickets, Hypokalemia, Hypophospha... |
ORPHA:213 |
| Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
| Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Ob... |
ORPHA:412 |
| Rabson-Mendenhall Syndrome |
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Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Anti-liver cytosolic antigen type 1 ant... |
ORPHA:562639 |
| Cardiomyopathy, Familial Restrictive, 3 |
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Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hypertension |
OMIM:166990 |
| Immunodeficiency 11A |
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Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Greig Cephalopolysyndactyly Syndrome |
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Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... |
OMIM:175700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:276 |
| Isolated Sedoheptulokinase Deficiency |
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Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
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Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Graft Versus Host Disease |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Fasciitis, Hepatosple... |
ORPHA:39812 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
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Lacunar stroke, Transient ischemic attack, Hypertension |
OMIM:616779 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
| Atrial Fibrillation, Familial, 14 |
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Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Congenital Short Bowel Syndrome |
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Lipoatrophy |
ORPHA:2301 |
| Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
| Solitary Fibrous Tumor |
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Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Hypop... |
ORPHA:2126 |
| Potocki-Lupski Syndrome |
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Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Motor stereotyp... |
OMIM:610883 |
| Nephrotic Syndrome, Type 2 |
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Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis |
OMIM:601457 |
| Preeclampsia |
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Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Type I diabetes mellitu... |
ORPHA:275555 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Aortic valve stenosis, Atypical scarring of skin, Atrophic scars, Lipodystrophy, Flexion contract... |
ORPHA:75496 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia |
OMIM:618881 |
| Polycystic Kidney Disease 7 |
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Hypertension |
OMIM:620056 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
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Recurrent fever, Flexion contracture of finger, Elevated circulating C-reactive protein concentra... |
OMIM:256040 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
| Sting-Associated Vasculopathy, Infantile-Onset |
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Pustular rash, Joint stiffness, Malar rash, Skin rash, Cytoplasmic antineutrophil antibody positi... |
OMIM:615934 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Cog7-Cdg |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Post... |
ORPHA:79333 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
