| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... |
OMIM:613495 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
OMIM:605258 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... |
OMIM:608106 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:613500 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... |
OMIM:613493 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... |
OMIM:300310 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... |
OMIM:613502 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Bloody diarrhea, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Dec... |
OMIM:243150 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
| Immunodeficiency 24 |
|
Respiratory tract infection, Severe varicella zoster infection, Decreased specific pneumococcal a... |
OMIM:615897 |
| Zollinger-Ellison Syndrome |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... |
ORPHA:913 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Recurrent infections, Decreased circulating IgG level |
OMIM:146830 |
| Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the liver, Neoplasm of the pancreas, Incr... |
ORPHA:97282 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency, Decreased activity of mitochondrial complex IV |
OMIM:619025 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:612692 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... |
OMIM:615830 |
| Eosinophilic Gastroenteritis |
|
Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Allerg... |
ORPHA:2070 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Abnor... |
ORPHA:99886 |
| Solitary Rectal Ulcer Syndrome |
|
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Stercoral... |
ORPHA:209964 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Progressive loss of facial adipose ... |
OMIM:608709 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:324575 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Elevated... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Elevated... |
ORPHA:100082 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... |
OMIM:615954 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276580 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276575 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... |
ORPHA:280356 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Diarrhea, Weight loss, Abdominal distention, A... |
ORPHA:103910 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Chronic diarrhea, Abdominal pain, Elevate... |
OMIM:615895 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Abdominal pain, Hypoc... |
OMIM:175500 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... |
ORPHA:319552 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... |
OMIM:612526 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
| Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Recurrent bacterial infections, Recurrent upper respirato... |
OMIM:608184 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea... |
OMIM:613812 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... |
OMIM:193670 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Zygomycosis |
|
Diarrhea, Fasciitis, Pericarditis, Gastritis, Hematological neoplasm, Colitis, Hematemesis, Splen... |
ORPHA:73263 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
| Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Diarrhea, High, narrow palate, Intussusception, Abdominal pain, Cachexi... |
ORPHA:79076 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
| Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... |
ORPHA:160148 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:251274 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:500013 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
| Vascular Hyalinosis |
|
Diarrhea, Malabsorption, Chorioretinal scar, Protein-losing enteropathy, Subarachnoid hemorrhage,... |
OMIM:277175 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutan... |
ORPHA:363400 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Hepatitis, Folliculitis, ... |
OMIM:300635 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased ... |
OMIM:214950 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Recurrent infections |
OMIM:235900 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
| Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... |
ORPHA:70482 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Type II diabetes mellitus, Elevated hepatic transaminase, Elevated circulating crea... |
ORPHA:79095 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria,... |
OMIM:606528 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Episodic tachypnea, Small ... |
ORPHA:26793 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Diarrhea, Abnormal blood ion concentration, Intestinal atresia, Sepsis, E... |
ORPHA:95427 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Villous atrophy, Recurrent urinary tract infections, Malabsorption, Bil... |
OMIM:209920 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Increased circulating interleukin 6 concentration, Abnormality of tumor ... |
ORPHA:540 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Neonatal sepsis, Increased circulating ACTH level, Decreased circulating cortisol... |
ORPHA:90790 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Respiratory distress, Hep... |
ORPHA:26792 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Type II ... |
OMIM:604367 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Abnormal renal c... |
ORPHA:464321 |
| Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
| Mody |
|
Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoinsulinemia, Hepatocellular adenoma, Gl... |
ORPHA:552 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... |
OMIM:618183 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... |
OMIM:617006 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... |
ORPHA:2298 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Neoplas... |
ORPHA:906 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Bloody diarrhea, Diarrhea, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepato... |
OMIM:615846 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain, Diabetes mellitus, Atypical scarring of skin |
ORPHA:46487 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lymphocytosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Proteinuria, M... |
ORPHA:79087 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H... |
ORPHA:411593 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the nervous system, Prostate cancer, Urinary retention, Genital neoplasm, Weight loss... |
ORPHA:2126 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... |
ORPHA:157794 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Bicuspid aortic valve, Atrial septal defect, Tremor, Decrea... |
OMIM:617744 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Type I di... |
OMIM:619707 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... |
ORPHA:369929 |
| Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Diarrhea, Ependymoma, Hepatoblastoma, Soft tissue neoplas... |
ORPHA:99818 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:607594 |
| Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Increased circulating interleukin 6 ... |
ORPHA:158061 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Poor suck, Weight loss, Abnormal large intestine morphology, Nausea and ... |
ORPHA:2198 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... |
ORPHA:326 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... |
ORPHA:100083 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Chronic diarrhea, Colitis, Pneumonia, Spleno... |
OMIM:614700 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Recurrent oti... |
OMIM:618944 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia |
ORPHA:96181 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric pol... |
OMIM:174900 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Polyphagia, Attention defici... |
ORPHA:369873 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... |
ORPHA:231580 |
| Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... |
OMIM:615767 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Elevated ... |
ORPHA:37042 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
| Insulinoma |
|
Primary hyperparathyroidism, Hyperinsulinemia, Hyperhidrosis, Nonketotic hypoglycemia, Neoplasm o... |
ORPHA:97279 |
| Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus |
ORPHA:676 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Insulin resistance, Hepatic steatosis, Epistaxis, Hypercalcemia, Prolonged pro... |
ORPHA:96168 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
| Enterocolitis |
|
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia |
OMIM:226150 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
| Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... |
ORPHA:70578 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Chronic oral candidiasis, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Caspase 8 Deficiency |
|
Decreased circulating total IgM, Decreased T cell activation, Recurrent sinopulmonary infections,... |
OMIM:607271 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinus... |
OMIM:618969 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent infection of the gastrointestinal tract, Recurrent infections, Decreased circulating Ig... |
OMIM:137100 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Abnormal circulating testosterone concent... |
OMIM:108420 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level |
ORPHA:169079 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tissue, Hepatic steatosis, Li... |
ORPHA:435651 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly |
OMIM:243300 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... |
OMIM:600803 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Impaired T cel... |
OMIM:614576 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... |
ORPHA:2929 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Abnormal circulatin... |
OMIM:616950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Recurrent respiratory infections, Increased mitoc... |
OMIM:619063 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin re... |
ORPHA:528 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... |
OMIM:613101 |
| Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intesti... |
OMIM:203300 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Decreased serum leptin,... |
ORPHA:79085 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... |
OMIM:243700 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... |
OMIM:301045 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Exertional dyspnea, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dica... |
ORPHA:42 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
| Mantle Cell Lymphoma |
|
Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, B-cell lymphoma |
ORPHA:52416 |
| Immunodeficiency 58 |
|
Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Chronic diarrhea, Colitis, Dysphag... |
OMIM:618131 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| Reticular Dysgenesis |
|
Diarrhea, Weight loss, Decreased circulating antibody level, Malabsorption, Skin rash, Aplasia/Hy... |
ORPHA:33355 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Cellulitis, Skin rash, Vasculitis, Vasculitis in the skin, Inflammation of the l... |
OMIM:617718 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased T cell activati... |
ORPHA:66628 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency, Decreased activity of mitochondrial complex I |
OMIM:618238 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Recurrent bacterial infections |
OMIM:202700 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
| 5-Oxoprolinase Deficiency |
|
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, I... |
OMIM:260005 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased T cell activati... |
ORPHA:179494 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... |
ORPHA:95699 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... |
OMIM:278000 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Hypogonadism, Decreased testicular size, Decreased serum leptin, Recurr... |
OMIM:614962 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:264580 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... |
OMIM:609529 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati... |
ORPHA:369 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating total IgM, Reduced natural killer cell activity, Recurren... |
OMIM:619281 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Abnormal circulating testosterone concentration, Abnormal circulating ... |
OMIM:620103 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re... |
OMIM:615139 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... |
ORPHA:90003 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Pneumo... |
OMIM:614069 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Gait ataxia, Recurrent candida infections, Panhypogammaglobulinemia, Lack of T cell function, Dec... |
ORPHA:572 |
| Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Sepsis, Diarrhea... |
ORPHA:70475 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Methicillin-resistant Staphylococcus aureus infection, Chronic oral candidiasis, Bronchiectasis, ... |
OMIM:618282 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... |
OMIM:615238 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
| Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
| Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Villous atrophy, Reduced natural killer cell activity, Feeding difficulties in inf... |
OMIM:616050 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss,... |
ORPHA:930 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level, Aspiration |
OMIM:610768 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis... |
OMIM:606069 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, W... |
ORPHA:141152 |
| Cowden Syndrome 1 |
|
Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Decreased ci... |
OMIM:158350 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Recurrent infections, Decreased specific antibody response to po... |
OMIM:616452 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitu... |
ORPHA:2348 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Atypical pulmonary carcin... |
ORPHA:100075 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... |
OMIM:618394 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Recurrent infections, Decreased circulating antibody level |
OMIM:616098 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... |
OMIM:300988 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
ORPHA:370 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia, Hypergl... |
ORPHA:941 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Weight loss, Increa... |
ORPHA:100080 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... |
OMIM:308230 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
| Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... |
OMIM:276700 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis,... |
ORPHA:79083 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Shigellosis |
|
Hemolytic-uremic syndrome, Bloody diarrhea, Abnormal blood ion concentration, Hypoglycemia, Hypon... |
ORPHA:810 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea,... |
ORPHA:652 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Acholic stools, Cholestatic liver ... |
ORPHA:65682 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased res... |
OMIM:203800 |
| Acquired Generalized Lipodystrophy |
|
Lymphoma, Cirrhosis, Hyperinsulinemia, Astrocytoma, Abnormal circulating lipid concentration, Ins... |
ORPHA:79086 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hyperhidrosis, Abnormal mitochondrial shape, Decreased activity of mitochondrial complex III, Dec... |
ORPHA:17 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Chroni... |
OMIM:617638 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM |
OMIM:606445 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Lymphoma, Recurrent bacterial skin infections, Recurrent mycobacterial infections,... |
ORPHA:911 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational ag... |
OMIM:614602 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Esophageal c... |
ORPHA:391487 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Weight loss, Cellulitis, Malabsorption, Hepatitis, Skin rash, Arth... |
ORPHA:47 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Hypoalbuminemia, Obesity, Colitis |
ORPHA:88643 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Abnormal ... |
OMIM:615577 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent ot... |
OMIM:601495 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Abnormal cardiac septum morphology, Decreased circulating antibody level |
ORPHA:99811 |
| Immunodeficiency 102 |
|
Sepsis, Severe varicella zoster infection, Increased circulating interleukin 6 concentration, Dec... |
OMIM:301082 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular carcinoma, E... |
ORPHA:2137 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Knee flexion contracture, Vomiting, High palate, Hip contracture, Necrotizing enterocolitis, Elbo... |
OMIM:616809 |
| Pseudomyxoma Peritonei |
|
Hernia, Weight loss, Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Inflamma... |
ORPHA:26790 |
| Porphyria Cutanea Tarda |
|
Scarring, Hepatocellular carcinoma, Portal inflammation, Elevated hepatic transaminase, Hepatic s... |
ORPHA:101330 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-Parkinson-White s... |
OMIM:619705 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Breast carcinoma, Oligoarthritis, Increased circulating interleukin 6 con... |
ORPHA:3243 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated hepatic transaminase, Elevate... |
OMIM:613327 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Decreased serum estradiol, T lymphocytopenia, Small for gestational ... |
ORPHA:2959 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Spermatogenic Failure 14 |
|
Azoospermia, Abnormal prolactin level, Abnormal circulating testosterone concentration, Abnormal ... |
OMIM:615842 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... |
OMIM:201475 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Bone marrow hypoce... |
ORPHA:3261 |
| Ebola Hemorrhagic Fever |
|
Vomiting, Diarrhea, Poor appetite, Increased circulating antibody level, Hepatitis, Abdominal pai... |
ORPHA:319218 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Syndromic Diarrhea |
|
Hypothyroidism, Bloody diarrhea, Abnormality of iron homeostasis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Myelodysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, ... |
ORPHA:158057 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... |
OMIM:617093 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... |
OMIM:222100 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Pneumonia, Sepsis, Decreased circulating IgG level, Recurrent tonsillitis, Decrea... |
ORPHA:183675 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... |
OMIM:616636 |
| Primary Sclerosing Cholangitis |
|
Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, H... |
ORPHA:171 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Colitis, Chronic diarrhea, Recurrent bronchiolitis, Splenomegaly, B-cell lym... |
OMIM:619164 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Cellulitis, Arthritis, Elbow flexion contracture, Hepatosplenomegaly, C... |
OMIM:604416 |
| Familial Colorectal Cancer Type X |
|
Flexion contracture, Neoplasm of the pancreas, Hepatocellular carcinoma, Abnormal circulating cre... |
ORPHA:440437 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposis, Recta... |
ORPHA:329971 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Vomiting, Diarrhea, Hyperinsulinemic hypoglycemia, Failure to t... |
ORPHA:79319 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Diarrhea, Decreased circulating antibody level, Bronchiectasis, Skin rash, Infl... |
OMIM:618108 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Diarrhea, Abnormal testis morphology, Hepatosplenomegaly, Intestinal obstr... |
ORPHA:85450 |
| Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Decreased circulating total IgM, Diarrhea, Decreased circulating antibody level, R... |
OMIM:619802 |
| Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Thrombocyto... |
OMIM:300972 |
| Hirschsprung Disease |
|
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... |
ORPHA:388 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Hyponatremia,... |
ORPHA:544482 |
| Thymic Aplasia |
|
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... |
ORPHA:83471 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... |
ORPHA:228308 |
| Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Elevated hepatic transaminase, Melanoma, Hepatosplenomegaly, Ovarian carci... |
ORPHA:1333 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, High, narrow palate, Chronic constipation, Recurrent otitis media, Failur... |
OMIM:619575 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... |
OMIM:618805 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Feeding difficulties... |
OMIM:606407 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... |
ORPHA:169160 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia |
OMIM:619693 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepati... |
ORPHA:340 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Im... |
OMIM:261680 |
| Somatostatinoma |
|
Intermittent jaundice, Parathyroid adenoma, Diarrhea, Neoplasm of the pancreas, Increased circula... |
ORPHA:97283 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Flexion contracture, Poor suck, Hypogonadism, Camptodactyly, Arthrogrypo... |
OMIM:615547 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra... |
ORPHA:79301 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hyperlipidem... |
ORPHA:79259 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Inability to walk, Central sleep apnea, Ataxia, Hepatic steatosis, Fail... |
ORPHA:70472 |
| 20Q13.33 Microdeletion Syndrome |
|
Small for gestational age, Hypospadias, Failure to thrive in infancy, Hematochezia |
ORPHA:261311 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Renal dysplasia, Elbow flexion contracture, Elevated hepatic transamin... |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hepatomega... |
OMIM:212065 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Delayed menarche, Acut... |
ORPHA:247585 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Cirrhosis, Hyperalaninemia, Vomiting, Diarrhea, Weight loss, Small intes... |
ORPHA:298 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... |
ORPHA:1501 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections |
OMIM:614102 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Malabsorption, Abdominal pain, Cachexia, Abdominal distention, Malnutrition, Gastroi... |
OMIM:613662 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Gastroi... |
ORPHA:100076 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... |
ORPHA:2088 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Recurrent infections, Hypergonadotropic hypogonadism |
ORPHA:352447 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen... |
OMIM:603471 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
| Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Diarrhea, Oliguria, Hepatomegaly, Decreased liver function, S... |
ORPHA:90051 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia... |
OMIM:617885 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hypohidrosis, Chronic diarrhea, Bronchiectasis, Corneal scarring, Increased circulating interleuk... |
OMIM:301220 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... |
OMIM:616005 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Sneddon Syndrome |
|
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Bicuspid aortic valve, Hyp... |
OMIM:182410 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... |
OMIM:266600 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Cellulitis, Interstitial pneumonitis, Ulcerative ... |
OMIM:614878 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Sinus tachycardia, Increased circulating T4 concentration, Elevated hepatic transaminas... |
ORPHA:525731 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Cushing Disease |
|
Recurrent cutaneous fungal infections, Pituitary corticotropic cell adenoma, Increased circulatin... |
ORPHA:96253 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Decreased cir... |
ORPHA:361 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T... |
OMIM:275000 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Recurrent sinusitis, Recurrent staphylococcal... |
ORPHA:331235 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morphology, Periportal fibro... |
ORPHA:64743 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Weight loss, Poor appetite, Nausea and vomiting, Sarcoma,... |
ORPHA:69077 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, B-cell lymphoma, Microscopic hematuria, Chronic lymphatic leukemia... |
ORPHA:91139 |
| Familial Chylomicronemia Syndrome |
|
Pulmonary embolism, Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, He... |
ORPHA:444490 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Thymoma |
|
Neoplasm of the gastrointestinal tract, Weight loss, Decreased circulating antibody level, Rheuma... |
ORPHA:99867 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis |
OMIM:615996 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Caroli Syndrome |
|
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... |
ORPHA:480520 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Villous atrophy, Diarrhea, Vo... |
OMIM:602579 |
| Intestinal Dysmotility Syndrome |
