Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Abnormal neuron morphology, Motor det... |
ORPHA:412066 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Increased circulating gonadotropin level, Impaired social int... |
ORPHA:8 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased serum testosterone level, D... |
ORPHA:90791 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Decreased circulating cortisol level, Pre... |
ORPHA:90795 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration |
OMIM:145295 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Functioning Gonadotropic Adenoma |
|
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... |
ORPHA:91348 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... |
ORPHA:99429 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypergo... |
ORPHA:163976 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Hyperinsulinemia, Decreased body weight, Type II diabetes mel... |
ORPHA:2298 |
Ovarian Fibrothecoma |
|
Abnormal circulating hormone concentration, Increased serum testosterone level |
ORPHA:314478 |
Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Alg6-Cdg |
|
Failure to thrive, Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Inappropriate sexual behavior, Abnormal e... |
ORPHA:562 |
X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Ab... |
ORPHA:163971 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating aldosterone level,... |
ORPHA:90794 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Hypothyroidism, Fa... |
ORPHA:769 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Increased serum testosterone level, Increased antimullerian ... |
ORPHA:90797 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, Eunuchoid habitus, Male hypogonadism, Primary gonadal... |
ORPHA:261534 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:616950 |
49,Xyyyy Syndrome |
|
Decreased serum testosterone concentration, Impulsivity, Eunuchoid habitus, Male hypogonadism, Pr... |
ORPHA:99330 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:108420 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Increased circulating gonadotropin level |
ORPHA:64739 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Small for gestational age, Hypogon... |
OMIM:300869 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Emotional lability |
OMIM:609195 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Semantic dementia, Abnormal social behavior, Memory impairment, Disinhibition, Dementia |
ORPHA:1020 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Abnormal social behavior, Depression, Anxiety, Panic attack, Emotional lability, Irr... |
ORPHA:255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:619613 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Decreased serum testosterone concentration, Emotional lability, Hypogonadism, ... |
OMIM:201100 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Eunuchoid habitus, Depressio... |
ORPHA:432 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum testosterone concentration, Small for gestational age, Hypergonadotropic hypogona... |
ORPHA:2959 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Hypoplasia of the thymus, Increased serum testosterone level, Small for gestat... |
OMIM:264090 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:301077 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypogonadotropic hypogonadis... |
OMIM:614841 |
Wiedemann-Rautenstrauch Syndrome |
|
Slender build, Failure to thrive, Increased serum testosterone level, Type II diabetes mellitus, ... |
ORPHA:3455 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... |
ORPHA:2495 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, H... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... |
OMIM:308700 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Apathy, Testicular atrophy, Decreased serum testosterone concentration, Hypogonadotropic hypogona... |
ORPHA:465508 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
46,Xy Sex Reversal 11 |
|
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... |
OMIM:273250 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration |
ORPHA:101006 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Decreased circulating follicle stimulating hormone co... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Androgen insufficiency... |
OMIM:228300 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus |
ORPHA:2976 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased serum estradiol, Male hypogon... |
ORPHA:168563 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Elevated circu... |
OMIM:305400 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... |
ORPHA:3044 |
Metachromatic Leukodystrophy, Adult Form |
|
Progressive psychomotor deterioration, Abnormal social behavior, Depression, Memory impairment, E... |
ORPHA:309271 |
48,Xxxy Syndrome |
|
Type II diabetes mellitus, Abnormal social behavior, Anxiety, Hypogonadism, Abnormal aggressive, ... |
ORPHA:96263 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Progressive psychomotor deterioration, Abnormal social behavior |
ORPHA:309263 |
Childhood Absence Epilepsy |
|
Depression, Anxiety, Low self esteem, Abnormal social behavior |
ORPHA:64280 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... |
ORPHA:90796 |
Leydig Cell Hypoplasia |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Female hypogonadism, ... |
ORPHA:755 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum testosterone concentration, Small pituitary gland, Streak ovary, Hypergonadotropi... |
ORPHA:2232 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Niemann-Pick Disease Type C |
|
Apathy, Cognitive impairment, Mental deterioration, Abnormal social behavior, Depression, Progres... |
ORPHA:646 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:168558 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... |
ORPHA:95699 |
Prader-Willi Syndrome Due To Translocation |
|
Happy demeanor, Head-banging, Decreased response to growth hormone stimulation test, Abnormal soc... |
ORPHA:177907 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... |
ORPHA:251510 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Fg Syndrome Type 1 |
|
Slender build, Small pituitary gland, Abnormal social behavior |
ORPHA:93932 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Aggressive behavior, Memory impairment, Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Self-injurious behavior, Impulsivity, Parathyroid adenoma, Abnormal social beh... |
ORPHA:805 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypogonadotropic hypo... |
OMIM:241080 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Hypothyroidism, Delayed puberty, Obesit... |
ORPHA:1772 |
Alström Syndrome |
|
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... |
ORPHA:64 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Small for gestational age |
ORPHA:97360 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Aggressive behavior |
ORPHA:495875 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Slender build, Precocious puberty, Decreased response to growth hormone stimula... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Slender build, Precocious puberty, Decreased response to growth hormone stimula... |
ORPHA:363958 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior |
ORPHA:1675 |
Mend Syndrome |
|
Failure to thrive, Aggressive behavior, Abnormal social behavior |
ORPHA:401973 |
46,Xx Sex Reversal 2 |
|
Decreased serum testosterone concentration |
OMIM:278850 |
Testicular Agenesis |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
Williams Syndrome |
|
Overfriendliness, Type II diabetes mellitus, Precocious puberty, Abnormal social behavior, Depres... |
ORPHA:904 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Failure to thrive, Decreased body weight, Aggressive behavior, Low frustration tolerance |
OMIM:300534 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Aggressive behavior |
ORPHA:85279 |