| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... |
OMIM:614372 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, C... |
ORPHA:137686 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed ... |
OMIM:616033 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... |
OMIM:604367 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R... |
OMIM:614962 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... |
ORPHA:276575 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestatio... |
ORPHA:79237 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Oligomeno... |
ORPHA:528 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Recurrent bacter... |
OMIM:300310 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
| Perlman Syndrome |
|
Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Aplasia of... |
ORPHA:83471 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Recurrent infections, Severe failure to thrive, Pancreatic ... |
OMIM:246200 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased ... |
OMIM:618187 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu... |
ORPHA:98813 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
| Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:176270 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
| Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
| Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Sever... |
OMIM:606367 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... |
OMIM:617475 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... |
ORPHA:79085 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Diabetes mellitus, Recurrent urinary tract in... |
ORPHA:183675 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... |
OMIM:243700 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypopla... |
OMIM:617053 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Tenorio Syndrome |
|
Recurrent pneumonia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Recurrent pneumonia, Hyperinsulinemia, Recurrent infections, Failure to thrive |
OMIM:613327 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Retrograde ejaculation |
ORPHA:230 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... |
ORPHA:69076 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Failure to thrive, Recurrent viral infections |
OMIM:618048 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
| Atypical Werner Syndrome |
|
Decreased body weight, Diabetes mellitus, Premature ovarian insufficiency, Failure to thrive, Abn... |
ORPHA:79474 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... |
OMIM:613179 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Decreased body weig... |
OMIM:615468 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Idiopathic Bronchiectasis |
|
Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
| 46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lo... |
OMIM:308230 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Failure to thrive |
OMIM:619693 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... |
ORPHA:331206 |
| Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79086 |
| Omenn Syndrome |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Hypoplas... |
OMIM:603554 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Insu... |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Decreased fertility, In... |
OMIM:269700 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Female infertility, Recurrent mycobacterial... |
ORPHA:244 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... |
ORPHA:508 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99413 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99226 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchi... |
OMIM:612541 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... |
OMIM:616005 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Irregular menstruation, Thyroiditis, Hypoglycemic seizures, Recurrent bacterial inf... |
ORPHA:79259 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Aplasia of the thymus, Recurrent viral infections, Recurrent pneumoni... |
OMIM:102700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Failure to thrive, Abnormality of the adrenal glands, Aplasia/Hyp... |
ORPHA:2176 |
| Pgm3-Cdg |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... |
ORPHA:443811 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... |
ORPHA:2968 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Congenital hypoparathyroidism |
OMIM:244460 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
| Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Orchitis, Severe varicella zoster infection, Invasive ... |
ORPHA:48435 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:221139 |
| Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
| Shwachman-Diamond Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Recurrent viral infecti... |
ORPHA:811 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... |
OMIM:608233 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Hypoglycemia, Delayed puberty |
OMIM:232220 |
| Sickle Cell Disease |
|
Recurrent bacterial infections, Priapism |
OMIM:603903 |
| Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections, Failure to thrive |
OMIM:615895 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
| Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cyt... |
OMIM:619573 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Failure to thrive, Recurrent infections |
OMIM:300972 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
| Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Abnormal circulating thyroid hormone concentration, Sepsis, H... |
OMIM:619991 |
| Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
| Primary Sclerosing Cholangitis |
|
Type I diabetes mellitus, Recurrent systemic pyogenic infections, Thyroiditis, Weight loss |
ORPHA:171 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Recurrent infections, Recurrent bacterial infec... |
ORPHA:2273 |
| Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Failure to thrive, Decreased response to growth hormone stimulati... |
ORPHA:470 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |
