Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Ataxia, Splenomegaly, Dementia, Gait disturbance |
ORPHA:2274 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Hyperlysinemia, Type I |
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Anemia, Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Gaucher Disease, Type Iii |
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Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio... |
OMIM:231000 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... |
ORPHA:231580 |
Coproporphyria, Hereditary |
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Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression |
OMIM:121300 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Increased circulating ACTH l... |
ORPHA:90790 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... |
ORPHA:96181 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Prolonged... |
OMIM:257220 |
Apparent Mineralocorticoid Excess |
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Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia, Decreased ci... |
ORPHA:320 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... |
ORPHA:90796 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged ne... |
OMIM:607625 |
Doors Syndrome |
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Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Ataxia, Autoimm... |
ORPHA:77293 |
African Trypanosomiasis |
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Hepatomegaly, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... |
ORPHA:3385 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Adrenal gland agenesis |
OMIM:611812 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353281 |
Tetraamelia Syndrome 1 |
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Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Adrenal gland dysgenesis |
OMIM:236680 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353277 |