Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Candidiasis, Familial, 4 |
|
Recurrent vulvovaginal candidiasis, Onychomycosis |
OMIM:613108 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
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 staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections |
OMIM:617585 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Monocyte and dendritic cell deficiency, autosomal recessive |
|
Recurrent infections |
OMIM:614894 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Tuftsin Deficiency |
|
Recurrent infections |
OMIM:191150 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613501 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Immunodeficiency 32A |
|
Recurrent infections |
OMIM:614893 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... |
OMIM:300310 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:612692 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613502 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... |
OMIM:605258 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Herpes simplex encephalitis, Recurrent herpes |
OMIM:610551 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections |
OMIM:617014 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL chole... |
OMIM:246700 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:242850 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... |
OMIM:613493 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... |
ORPHA:103910 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... |
OMIM:610947 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection |
OMIM:300636 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent enteroviral infections, Recurre... |
OMIM:601495 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Failure to thrive, Hypoalbuminemia |
ORPHA:79320 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... |
ORPHA:2298 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Infectious encephalitis, Recurrent protozoan infections, Recurren... |
OMIM:209920 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... |
ORPHA:275 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... |
OMIM:616050 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Meningitis, Recurre... |
OMIM:240500 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... |
ORPHA:2688 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... |
ORPHA:86816 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Hypoalbuminemia |
OMIM:608104 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
Immunodeficiency 27A |
|
Weight loss, Hypoalbuminemia |
OMIM:209950 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... |
ORPHA:83471 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:607594 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Eosinophilic Gastroenteritis |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Chr... |
ORPHA:276 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Leishmaniasis |
|
Weight loss, Hypoalbuminemia |
ORPHA:507 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... |
ORPHA:88618 |
Ménétrier Disease |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... |
ORPHA:572 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Decreased body weight, Neonata... |
ORPHA:1667 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Hypoglycemia, Failure to thrive, Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... |
OMIM:603553 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233710 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... |
OMIM:116920 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... |
ORPHA:331235 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Recurrent herpes, Recurrent otiti... |
ORPHA:183675 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia |
ORPHA:90362 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia |
OMIM:617475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:306400 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:616005 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Optic atrophy, Weight loss, Hypoalbuminemia |
OMIM:619487 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... |
ORPHA:86839 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Hypomagnesemia,... |
ORPHA:37042 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Failure to thrive, Recurrent hypoglycemia, Retinal detachment,... |
ORPHA:79324 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... |
ORPHA:14 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... |
ORPHA:486 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia |
OMIM:212065 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Failure to thrive, Decreased serum iron, Abnormal circulating selenium conc... |
ORPHA:89842 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Hypoalbuminemia |
ORPHA:67 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia |
OMIM:165550 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Weight loss, H... |
ORPHA:88673 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia |
ORPHA:85443 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Small for gestational age, Failure to thri... |
OMIM:222470 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, R... |
OMIM:613179 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Small for gestational age, Hypoalbuminemia |
OMIM:251300 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Severe varicella zoster infection, Recurrent fungal infections, C... |
OMIM:606367 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection |
OMIM:300291 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Hypoalbuminemia |
OMIM:235510 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Optic atrophy, Abnormality of retinal pigmentation, Hypoalbuminemia |
ORPHA:505248 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
ORPHA:331206 |
Idiopathic Bronchiectasis |
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Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Coloboma, Ocular, Autosomal Dominant |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... |
OMIM:120200 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... |
ORPHA:90363 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Failure to thrive, Hypoalbuminemia |
ORPHA:79396 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failur... |
OMIM:613658 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Primary Sclerosing Cholangitis |
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Weight loss, Type I diabetes mellitus, Hypoalbuminemia |
ORPHA:171 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Recurrent bacterial infections, Sepsis, Meningitis, Recurrent lower respiratory tract infections |
OMIM:308230 |
Marburg Hemorrhagic Fever |
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Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... |
ORPHA:99826 |
Immunodeficiency 23 |
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Severe varicella zoster infection, Chronic mucocutaneous candidiasis, Recurrent staphylococcal in... |
OMIM:615816 |
Juvenile Polyposis Of Infancy |
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Cachexia, Hypoalbuminemia |
ORPHA:79076 |
Vici Syndrome |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... |
OMIM:242840 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Pgm3-Cdg |
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Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:443811 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent bacterial infections, Recurrent ear infections, Recurrent fungal infections, Chronic or... |
ORPHA:221139 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Recurrent absce... |
OMIM:608233 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections |
OMIM:244460 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections |
OMIM:241410 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Recurrent bacterial infections, Sepsis, Recurrent respiratory infections |
OMIM:612541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Mirage Syndrome |
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Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections |
OMIM:617053 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:102700 |
Postinfectious Vasculitis |
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Persistent human papillomavirus infection, Severe varicella zoster infection, Severe cytomegalovi... |
ORPHA:48435 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial infections, Recurrent infections, Recurrent bacterial skin infections, Recurr... |
ORPHA:167 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholes... |
OMIM:619534 |
Whim Syndrome |
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Recurrent bacterial infections, Sepsis, Meningitis, Recurrent upper respiratory tract infections,... |
ORPHA:51636 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections |
ORPHA:244 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections |
ORPHA:2176 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections |
OMIM:248500 |
Persistent Hyperplastic Primary Vitreous |
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Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... |
ORPHA:91495 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections |
OMIM:214500 |
Sickle Cell Anemia |
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Recurrent bacterial infections |
OMIM:603903 |
Immunodeficiency 82 With Systemic Inflammation |
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Weight loss, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Leukocyte Adhesion Deficiency |
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Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... |
ORPHA:2968 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
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Hypoalbuminemia |
OMIM:614748 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
Tropical Endomyocardial Fibrosis |
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Cachexia, Hypoalbuminemia |
ORPHA:75565 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections |
OMIM:232220 |
Immunodeficiency 47 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Shwachman-Diamond Syndrome |
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Recurrent bacterial infections, Sepsis, Recurrent viral infections |
ORPHA:811 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Pmm2-Cdg |
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Insulin resistance, Failure to thrive, Reduced thyroxin-binding globulin, Hypoalbuminemia, Hyperi... |
ORPHA:79318 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Recurrent bacterial infections |
ORPHA:79259 |
Norrie Disease |
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Optic atrophy, Cachexia, Ectopia lentis, Failure to thrive, Retinal detachment, Diabetes mellitus... |
ORPHA:649 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Neurofibromatosis Type 2 |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Microphthalmia, Syndromic 2 |
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Remnants of the hyaloid vascular system, Retinal detachment, Decreased body weight, Iris coloboma |
OMIM:300166 |
Lysinuric Protein Intolerance |
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Recurrent bacterial infections |
ORPHA:470 |
Neuroocular Syndrome |
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Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma |
OMIM:619539 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Spinocerebellar Ataxia 35 |
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OMIM:613908 |
Spinocerebellar Ataxia Type 35 |
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ORPHA:276193 |