Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
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 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral 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 streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... |
OMIM:614372 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media |
OMIM:617585 |
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, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
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 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... |
ORPHA:319552 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... |
OMIM:613500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections |
OMIM:619437 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... |
OMIM:613752 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... |
OMIM:605258 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Failure to thrive, Hypotriglyceridemia, Hypocholesterole... |
OMIM:246700 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent sinusitis, Recurrent ... |
OMIM:613493 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... |
OMIM:300636 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection... |
OMIM:613501 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Recurrent bact... |
OMIM:300310 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections |
OMIM:608106 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
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 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Retinal degeneration, Hypoalbuminemia |
ORPHA:79320 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media |
OMIM:613502 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616267 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Decreased body weight, Fasting hypogl... |
ORPHA:2298 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Recurrent viral infections... |
OMIM:209920 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... |
ORPHA:275 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... |
OMIM:616050 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media |
OMIM:612692 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:240500 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia |
OMIM:618805 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... |
ORPHA:86816 |
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, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... |
OMIM:267700 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Thymic Aplasia |
|
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... |
ORPHA:83471 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Disseminated molluscum contagiosum, Recurrent sinusitis, Recurrent otitis media, Recurrent sinopu... |
OMIM:243700 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa... |
OMIM:242150 |
Immunodeficiency 27A |
|
Weight loss, Hypoalbuminemia |
OMIM:209950 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... |
ORPHA:2688 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... |
OMIM:607594 |
Complement Factor I Deficiency |
|
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... |
OMIM:610984 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia |
ORPHA:2070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Fail... |
ORPHA:88618 |
Refractory Celiac Disease |
|
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Leishmaniasis |
|
Weight loss, Hypoalbuminemia |
ORPHA:507 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Hyperbilirubinemia, Hyperamm... |
ORPHA:1667 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Ménétrier Disease |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Optic atrophy, Failure to thrive, Hypoglycemia, Hypoalbuminemia |
OMIM:618329 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Recurrent herpes, Chronic mucocutaneous candidiasis, ... |
ORPHA:572 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... |
OMIM:619055 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... |
ORPHA:169090 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... |
OMIM:603553 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... |
OMIM:116920 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... |
OMIM:251880 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... |
OMIM:147060 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypertyrosinemia, Conjug... |
OMIM:617156 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233710 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... |
ORPHA:552 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Recurrent urinary tract infections, Pyoderma, Recurrent oti... |
OMIM:307200 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis |
OMIM:617475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:233690 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections,... |
OMIM:601495 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent shingles, Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recur... |
ORPHA:183675 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... |
ORPHA:331235 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... |
ORPHA:454836 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Optic atrophy, Hypoalbuminemia |
OMIM:610965 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal circulating protein conc... |
ORPHA:86839 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Optic atrophy, Weight loss, Hypoalbuminemia |
OMIM:619487 |
Alg12-Cdg |
|
Failure to thrive, Hypocholesterolemia, Recurrent hypoglycemia, Hyponatremia, Retinal detachment,... |
ORPHA:79324 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... |
ORPHA:486 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Cachexia, Type I diabetes mellitus, Abnormal blood ion concentration,... |
ORPHA:37042 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased body weight, Decreased plasma carnitine, Decreased serum iron, Failure to thrive, Abnor... |
ORPHA:89842 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... |
OMIM:616005 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormality of retinal pigmentation,... |
ORPHA:14 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Immunodeficiency 21 |
|
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Hepatocellular Carcinoma |
|
Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalce... |
ORPHA:88673 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Hypoalbuminemia |
ORPHA:67 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Failure to thrive, Hypoalbuminemia |
OMIM:212065 |
Al Amyloidosis |
|
Hypoalbuminemia, Weight loss, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Recurrent bacterial infec... |
OMIM:613179 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Optic atrophy, Hypoalbuminemia |
OMIM:251300 |
Wilson Disease |
|
Glycosuria, Decreased circulating ceruloplasmin concentration, Increased circulating copper conce... |
OMIM:277900 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Chronic oral candidiasis, Recurrent bacterial infections, Recu... |
OMIM:606367 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Small for gestational age, Failure to thrive... |
OMIM:222470 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent... |
ORPHA:331206 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... |
OMIM:120200 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Enteroviral encephalitis, Chronic oral candidiasis, Recurrent bacterial infections, Meningitis, P... |
OMIM:308230 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... |
OMIM:306400 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Severe cytomegalovirus infection, Molluscum contagiosum |
OMIM:300291 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Unconjugated hyperbilirubinemia, Failure to thrive, Hypoglycemia, Slen... |
OMIM:613658 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:603554 |
Secondary Intestinal Lymphangiectasia |
|
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... |
ORPHA:90363 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79396 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... |
OMIM:615816 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Primary Sclerosing Cholangitis |
|
Type I diabetes mellitus, Weight loss, Hypoalbuminemia |
ORPHA:171 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia, El... |
ORPHA:99826 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Hypoalbuminemia |
ORPHA:79076 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Pgm3-Cdg |
|
Recurrent fungal infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent infec... |
ORPHA:443811 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent... |
ORPHA:221139 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infect... |
OMIM:608233 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Failure to thrive, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... |
OMIM:614643 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent... |
OMIM:102700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... |
OMIM:612541 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent streptococcal infections, Recurrent staphylococcal... |
ORPHA:167 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... |
ORPHA:48435 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia |
OMIM:619381 |
Whim Syndrome |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Coloboma, Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Hy... |
OMIM:619534 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media |
ORPHA:244 |
Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... |
ORPHA:91495 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Vici Syndrome |
|
Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent viral infections, Re... |
OMIM:242840 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Chediak-Higashi Syndrome |
|
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections |
OMIM:214500 |
Immunodeficiency 87 And Autoimmunity |
|
Persistent EBV viremia, Sepsis, Recurrent bacterial infections, Recurrent viral infections, Sever... |
OMIM:619573 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Pierson Syndrome |
|
Retinal hemorrhage, Posterior lenticonus, Remnants of the hyaloid vascular system, Hypoproteinemi... |
OMIM:609049 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... |
ORPHA:2968 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Hypoalbuminemia |
ORPHA:75565 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Cystic Fibrosis |
|
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... |
ORPHA:586 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Recurrent viral infections, Sepsis |
ORPHA:811 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections |
OMIM:232220 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections |
ORPHA:79259 |
Pmm2-Cdg |
|
Hyperinsulinemia, Insulin resistance, Failure to thrive, Reduced thyroxin-binding globulin, Hypoa... |
ORPHA:79318 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Norrie Disease |
|
Optic atrophy, Cachexia, Failure to thrive, Diabetes mellitus, Remnants of the hyaloid vascular s... |
ORPHA:649 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Iris coloboma, Decreased body weight, Remnants of the hyaloid vascular system |
OMIM:300166 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections |
ORPHA:470 |
Holoprosencephaly 2 |
|
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma |
OMIM:619539 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Spinocerebellar Ataxia Type 35 |
|
|
ORPHA:276193 |
Spinocerebellar Ataxia 35 |
|
|
OMIM:613908 |