Mitochondria Phenome Knowledgebase

Gene Symbol HSD3B2
Ensembl ID ENSG00000203859 Entrez 3284
Gene Alias HSDB; HSDB3 Subcellular Locations Endoplasmatic-reticulum Mitochondria
Map Position 1p13.1 Subcell PMIDs 305825 10514560
OMIM Gene 201810 Protein Complex
Swissprot ID P26439 Swissprot Description 3 beta-hydroxysteroid dehydrogenase/delta 5->4-isomerase type II
OMIM Disease Adrenal hyperplasia type II (AH II) [201810]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
HSD3B2 201810 Neoplasms oncologic #14764821
HSD3B2 201810 Urogenital-neoplasms Wilms tumor oncologic 14764821
HSD3B2 201810 Musculoskeletal-diseases musculoskeletal #295036 #10843183 #12050213 #15585552
HSD3B2 201810 Bone-diseases musculoskeletal #295036 #10843183 #12050213 #15585552
HSD3B2 201810 Bone-age-abnormal slowed; pubertal bone age; bone maturation abnormal; bone maturation accelerated; bone age delayed musculoskeletal 295036 10843183 12050213 15585552
HSD3B2 201810 Digestive-system-diseases gastrointestinal #1363812
HSD3B2 201810 Diarrhea gastrointestinal 1363812
HSD3B2 201810 Vomiting gastrointestinal 1363812
HSD3B2 201810 Respiratory-tract-diseases respiratory #1363812
HSD3B2 201810 Respiration-disorders respiratory distress respiratory 1363812
HSD3B2 201810 Nervous-system-diseases neurologic #10770215
HSD3B2 201810 Neurologic-manifestations neurologic #10770215
HSD3B2 201810 Neurobehavioral-manifestations neurologic #10770215
HSD3B2 201810 Lethargy neurologic 10770215
HSD3B2 201810 Genitourinary-diseases genitourinary #1363812 #10770215 #10843183 #11344940 #12050224 #14764821 #15585552
HSD3B2 201810 Male-genital-diseases genitourinary #10843183
HSD3B2 201810 Infertility-male male infertility; azoospermic; azoospermia genitourinary 10843183
HSD3B2 201810 Urogenital-abnormalities genitourinary #1363812 #10770215 #10843183 #12050224 #14764821 #15585552
HSD3B2 201810 Cryptorchidism bilateral cryptorchidism genitourinary 14764821
HSD3B2 201810 Hypospadias various degrees of hypospadias; urethral opening abnormal; penile hypospadias; perineoscrotal hypospadias; idiopathic hypospadias genitourinary 1363812 10770215 10843183 12050224 14764821 15585552
HSD3B2 201810 Urologic-diseases genitourinary #10770215
HSD3B2 201810 Kidney-diseases genitourinary #10770215
HSD3B2 201810 Uremia serum urea nitrogen increased; BUN increased genitourinary 10770215
HSD3B2 201810 Female-genital-diseases genitourinary #11344940 #12050224
HSD3B2 201810 Menstruation-disturbances amenorrhea; menometrorrhagia; irregular menses; older females genitourinary 11344940 12050224
HSD3B2 201810 Skin-diseases dermatologic #1363812 #10843183 #11344940 #12050224
HSD3B2 201810 Gynecomastia during puberty dermatologic 1363812
HSD3B2 201810 Hair-diseases dermatologic #11344940 #12050224
HSD3B2 201810 Hirsutism hirsutism; hirsute dermatologic 11344940 12050224
HSD3B2 201810 Pigmentation-disorders dermatologic #1363812 #10843183
HSD3B2 201810 Hyperpigmentation skin hyperpigmentation; genitalia hyperpigmentation dermatologic 1363812 10843183
HSD3B2 201810 Metabolic-diseases metabolic #295036 #1363812 #8284113 #10770215 #10843183 #12050213 #12050224 #15585552
HSD3B2 201810 Glucose-metabolism-disorders metabolic #10770215 #10843183
HSD3B2 201810 Hypoglycemia hypoglycemia during neonatal period metabolic 10770215 10843183
HSD3B2 201810 Water-electrolyte-imbalance electrolyte imbalance metabolic #295036 1363812 #8284113 #10770215 #10843183 #12050213 #12050224 #15585552
HSD3B2 201810 Dehydration dehydrated metabolic 1363812 10843183
HSD3B2 201810 Hyperkalemia potassium levels elevated metabolic 10770215 10843183 15585552
HSD3B2 201810 Hyponatremia hyponatremia metabolic 10770215 10843183 15585552
HSD3B2 201810 Salt-wasting salt losing crisis metabolic 295036 1363812 8284113 10770215 10843183 12050213 12050224 15585552
HSD3B2 201810 Endocrine-system-diseases endocrinologic #295036 #1363812 #8284113 #10770215 #10843183 #11344940 #12050213 #12050224 #14764821 #15585552
HSD3B2 201810 Adrenal-gland-diseases adrenogenital disease endocrinologic #295036 #1363812 #8284113 10843183 #11344940 #12050213 12050224 #15585552
HSD3B2 201810 Adrenal-hyperplasia enlarged adrenals; congenital endocrinologic 1363812 8284113 10843183 11344940 12050213 12050224 15585552
HSD3B2 201810 Adrenal-insufficiency adrenal deficiency; gonadal deficiency endocrinologic 295036 1363812 8284113 10843183 #12050213
HSD3B2 201810 Hypocortisolism low normal cortisol levels endocrinologic 10843183 12050213
HSD3B2 201810 Gonadal-disorders endocrinologic #1363812 #8284113 #10770215 #10843183 #11344940 #12050213 #12050224 #14764821 #15585552
HSD3B2 201810 Hypogonadism endocrinologic 11344940 12050224
HSD3B2 201810 Precocious-puberty premature pubarche; premature sexual hair; precocious pubarche endocrinologic 12050224 14764821
HSD3B2 201810 Sex-differentiation-disorders masculinization incomplete; ambiguous genitalia; ambiguity external genitalia; premature adrenarche; midcycle type endometrium; ovarian cysts; chordee with or without a bifid scrotum; bifid scrotum; clitoral enlargement; chordee; micropenis endocrinologic 1363812 8284113 10770215 10843183 #11344940 12050213 12050224 14764821 15585552
HSD3B2 201810 Hermaphroditism male pseudohermaphrodite; pseudohermaphroditism endocrinologic 8284113 10770215 12050224
HSD3B2 201810 Hyperandrogenism testosteron abnormal; testosteron elevated; 17 hydroxyprogesterone elevated; DHEA S elevated; hyperandrogenic females endocrinologic 1363812 10770215 10843183 11344940 12050213 15585552
HSD3B2 201810 Pituitary-diseases endocrinologic #10770215 #10843183 #11344940 #12050224
HSD3B2 201810 Hyperpituitarism corticotropin levels abnormal; ACTH elevated endocrinologic 10770215 10843183 11344940 12050224
HSD3B2 201810 Body-temperature-changes miscellaneous #10843183
HSD3B2 201810 Fever miscellaneous 10843183
HSD3B2 201810 Growth-disorders miscellaneous #10843183 #12050213
HSD3B2 201810 Growth-accelerated height accelerated; weight accelerated miscellaneous 10843183 12050213

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