{"orpha":95699,"name":"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital adrenal hyperplasia due to cytochrome POR deficiency","POR deficiency","PORD"],"definition":"A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95699/","orphanet_url":"https://www.orpha.net/en/disease/detail/95699","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase","synonyms":["Hyperplasie congénitale des surrénales par déficit en cytochrome POR","PORD","Déficit en POR"],"definition":"Forme rare d'hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase, caractérisée par un déficit en glucocorticoïdes, une virilisation des organes génitaux externes chez les filles et une hypovirilisation chez les garçons. Les cas rapportés vont de nourrissons atteints d'une forme sévère avec anomalies/variations du développement sexuel 46,XX et 46,XY et déficit en cortisol à des femmes atteintes d'une forme légère à type de syndrome des ovaires polykystiques, ou des hommes atteints d'une forme légère à type d'hypogonadisme."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel","synonyms":["CAH durch n P450-Oxidoreduktase-Mangel","Kongenitale adrenale Hyperplasie durch POR-Defizienz","Nebennierenhyperplasie, kongenitale, durch Cytochrom-POR-Mangel","POR-Mangel"],"definition":"Eine seltene Form der kongenitalen Nebennierenhyperplasie durch P450-Oxidoreduktase-Mangels, die durch Glukokortikoidmangel, Virilisierung der äußeren Genitalien beim weiblichen Geschlecht und unvollständige Virilisierung beim männlichen Geschlecht gekennzeichnet ist. Die Befunde reichen von schwer betroffenen Säuglingen mit 46,XX- und 46,XY-Störungen/Varianten der Geschlechtsentwicklung (DSD) und Cortisolmangel bis zu leicht betroffenen Frauen mit polyzystischem Ovarialsyndrom oder leicht betroffenen Männern mit Gonadeninsuffizienz."},"es":{"name":"Hiperplasia suprarrenal congénita por deficiencia de citocromo P450 oxidoreductasa","synonyms":["Deficiencia de POR","Hiperplasia suprarrenal congénita por deficiencia de citocromo POR","PORD"],"definition":"Una forma poco frecuente de hiperplasia suprarrenal congénita debida a un déficit de oxidorreductasa P450 y caracterizada por deficiencia de glucocorticoides, virilización de los genitales externos en mujeres y subvirilización en hombres. Los hallazgos van desde lactantes 46,XX y 46,XY gravemente afectos con anomalías del desarrollo sexual (ADS) o desarrollo sexual diferente (DSD) y déficit de cortisol hasta mujeres levemente afectadas que parecen tener síndrome de ovario poliquístico, o varones levemente afectados con insuficiencia gonadal."},"it":{"name":"Iperplasia surrenalica congenita da deficit di citocromo P450 ossidoreduttasi","synonyms":["Deficit di POR","Iperplasia congenita del surrene da deficit di citocromo POR","PORD"],"definition":"Si tratta di una forma rara di iperplasia congenita del surrene, causata dal deficit della P450 ossidoreduttasi, e caratterizzata da un deficit di glucocorticoidi, virilizzazione dei genitali esterni nelle femmine e scarsa virilizzazione nei maschi. Il quadro clinico è variabile, e comprende i neonati gravemente affetti con disturbi/differenze dello sviluppo sessuale (DSD) con cariotipo 46,XX e 46,XY e deficit di cortisolo, le femmine affette da forme lievi che ricordano la sindrome dell'ovaio policistico, e i maschi lievemente colpiti che presentano insufficienza gonadica."},"nl":{"name":"Congenitale adrenale hyperplasie door deficiëntie van cytochroom P450-oxidoreductase","synonyms":["Congenitale bijnierhyperplasie door cytochroom POR-deficiëntie","Congenitale hyperplasie van bijnier door deficiëntie van cytochroom P450-oxidoreductase","POR-deficiëntie","PORD"],"definition":"Een zeldzame vorm van congenitale adrenale hyperplasie door deficiëntie van P450-oxidoreductase, gekenmerkt door deficiëntie van glucocorticoïd, virilisatie van uitwendige geslachtsorganen bij vrouwen, en ondervirilisatie bij mannen. Bevindingen variëren van ernstig getroffen zuigelingen met 46,XX- en 46,XY-geslachtsontwikkelingsstoornis (DSD) en deficiëntie van cortisol tot mild getroffen vrouwen die lijken te lijden aan polycysteus ovarium-syndroom, of mild getroffen mannen met gonadale insufficiëntie."},"pt":{"name":"Hiperplasia supra-renal congénita por deficiência de citocromo P450 oxidorreductase","synonyms":["Deficiência de POR","Hiperplasia supra-renal congénita por deficiência de citocromo POR","PORD"],"definition":"Forma rara de hiperplasia supra-renal congénita devido a deficiência da oxidoredutase P450 e caracterizada por deficiência de glicocorticóides, virilização da genitália externa em mulheres e subvirilização em homens. A apresentação clínica varia desde crianças 46,XX e 46,XY com doença grave e distúrbios/anomalias do desenvolvimento sexual (DSD) e deficiência de cortisol a mulheres, com manifestações ligeiras que aparentam síndrome dos ovários policísticos, ou homens apenas com insuficiência gonadal."},"pl":{"name":"Wrodzony przerost nadnerczy z powodu niedoboru oksydoreduktazy cytochromu P450","synonyms":["Niedobór POR","PORD","Wrodzony przerost nadnerczy z powodu niedoboru cytochromu POR"]},"cs":{"name":"Vrozená adrenální hyperplázie způsobená deficitem cytochrom P450 oxidoreduktázy","synonyms":["Deficit POR","PORD","Vrozená adrenální hyperplázie způsobená deficitem cytochrom POR"]},"uk":{"name":"Вроджена гіперплазія надниркових залоз внаслідок дефіциту цитохрому Р450 оксидоредуктази","synonyms":["Вроджена гіперплазія надниркових залоз внаслідок дефіциту цитохрому POR","Дефіцит POR","PORD"],"definition":"A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency."},"zh":{"name":"细胞色素P450氧化还原酶缺乏所致先天性肾上腺增生症","synonyms":["细胞色素POR缺乏所致先天性肾上腺增生症"],"definition":"细胞色素P450氧化还原酶缺乏所致先天性肾上腺增生症是先天性肾上腺增生症（CAH；见该词条）的一种独特类型，其特征是糖皮质激素缺乏、严重的性别模糊和骨骼（尤其是颅面）畸形。"},"tr":{"name":"Sitokrom P450 oksidoredüktaz eksikliğine bağlı doğumsal adrenal hiperplazi","synonyms":["PORD","POR eksikliği","Sitokrom POR eksikliğine bağlı doğumsal adrenal hiperplazi"]}},"xrefs":[{"source":"OMIM","code":"613571","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"497412536"},{"source":"MONDO","code":"0013310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90776,"name":"46,XX difference of sex development induced by fetal androgens excess","classifications":[147,156,185,193,205]},{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","classifications":[147,156,185,193,205,233]},{"orpha":418,"name":"Congenital adrenal hyperplasia","classifications":[156,193]}],"children":[],"genes":[{"symbol":"POR","name":"cytochrome p450 oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9208","ensembl":"ENSG00000127948","omim":"124015","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-07","source":"31888681[PMID]_20301592[PMID]_3312397[PMID]","terms":[{"hpo":"HP:0031074","label":"Abnormal response to ACTH stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031065","label":"Abnormal ovarian morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031083","label":"Abnormal response to human chorionic gonadotrophin stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031187","label":"Abnormality of circulating pregnenolone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000032","label":"Abnormality of male external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000927","label":"Abnormality of skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031215","label":"Decreased circulating dehydroepiandrosterone-sulfate level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031213","label":"Elevated circulating 17-hydroxyprogesterone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031216","label":"Increased circulating progesterone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005913","label":"Abnormality of metacarpal epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011911","label":"Abnormality of metacarpophalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030349","label":"Decreased circulating androgen level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031100","label":"Decreased inhibin B level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025486","label":"Fused labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032362","label":"Increased circulating corticosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040253","label":"Increased size of the clitoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011302","label":"Long palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008072","label":"Maternal virilization in pregnancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009701","label":"Metacarpal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001440","label":"Metatarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006439","label":"Radioulnar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006118","label":"Shortening of all distal phalanges of the fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003826","label":"Stillbirth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003049","label":"Ulnar deviation of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011403","label":"Abnormal umbilical cord blood vessels","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010946","label":"Dilatation of the renal pelvis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007466","label":"Midfrontal capillary hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005892","label":"Proximal tibial and fibular fusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very rare (<4-1%)","criteria":null}]}}