ORPHA:95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Synonyms: Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency · PORD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency · PORD |
| fr | Hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase | Hyperplasie congénitale des surrénales par déficit en cytochrome POR · PORD · Déficit en POR |
| de | Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel | CAH durch n P450-Oxidoreduktase-Mangel · Kongenitale adrenale Hyperplasie durch POR-Defizienz · Nebennierenhyperplasie, kongenitale, durch Cytochrom-POR-Mangel · POR-Mangel |
| es | Hiperplasia suprarrenal congénita por deficiencia de citocromo P450 oxidoreductasa | Deficiencia de POR · Hiperplasia suprarrenal congénita por deficiencia de citocromo POR · PORD |
| it | Iperplasia surrenalica congenita da deficit di citocromo P450 ossidoreduttasi | Deficit di POR · Iperplasia congenita del surrene da deficit di citocromo POR · PORD |
| nl | Congenitale adrenale hyperplasie door deficiëntie van cytochroom P450-oxidoreductase | Congenitale bijnierhyperplasie door cytochroom POR-deficiëntie · Congenitale hyperplasie van bijnier door deficiëntie van cytochroom P450-oxidoreductase · POR-deficiëntie · PORD |
| pt | Hiperplasia supra-renal congénita por deficiência de citocromo P450 oxidorreductase | Deficiência de POR · Hiperplasia supra-renal congénita por deficiência de citocromo POR · PORD |
| pl | Wrodzony przerost nadnerczy z powodu niedoboru oksydoreduktazy cytochromu P450 | Niedobór POR · PORD · Wrodzony przerost nadnerczy z powodu niedoboru cytochromu POR |
| cs | Vrozená adrenální hyperplázie způsobená deficitem cytochrom P450 oxidoreduktázy | Deficit POR · PORD · Vrozená adrenální hyperplázie způsobená deficitem cytochrom POR |
| uk | Вроджена гіперплазія надниркових залоз внаслідок дефіциту цитохрому Р450 оксидоредуктази | Вроджена гіперплазія надниркових залоз внаслідок дефіциту цитохрому POR · Дефіцит POR · PORD |
| zh | 细胞色素P450氧化还原酶缺乏所致先天性肾上腺增生症 | 细胞色素POR缺乏所致先天性肾上腺增生症 |
| tr | Sitokrom P450 oksidoredüktaz eksikliğine bağlı doğumsal adrenal hiperplazi | PORD · POR eksikliği · Sitokrom POR eksikliğine bağlı doğumsal adrenal hiperplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613571 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0013310 | E | validated | |
| UMLS | C1860042 | E | validated | |
| GARD | 12664 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:9078646,XY difference of sex development due to adrenal and testicular steroidogenesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:418Congenital adrenal hyperplasia
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POR | Disease-causing germline mutation(s) in | Assessed | HGNC:9208 | ENSG00000127948 | 124015 | 7q11.23 | cytochrome p450 oxidoreductase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
108 annotations · validated 2021-05-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031074 | Abnormal response to ACTH stimulation test | |
| HP:0000924 | Abnormality of the skeletal system | |
| Frequent (79-30%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0031065 | Abnormal ovarian morphology | |
| HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test | |
| HP:0031187 | Abnormality of circulating pregnenolone level | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0000032 | Abnormality of male external genitalia | |
| HP:0000927 | Abnormality of skeletal maturation | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0031215 | Decreased circulating dehydroepiandrosterone-sulfate level | |
| HP:0000144 | Decreased fertility | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0003070 | Elbow ankylosis | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0031213 | Elevated circulating 17-hydroxyprogesterone | |
| HP:0001007 | Hirsutism | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0031216 | Increased circulating progesterone | |
| HP:0001377 | Limited elbow extension | |
| HP:0000798 | Oligozoospermia | |
| HP:0000147 | Polycystic ovaries | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0005913 | Abnormality of metacarpal epiphyses | |
| HP:0011911 | Abnormality of metacarpophalangeal joint | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001155 | Abnormality of the hand | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0001166 | Arachnodactyly | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000414 | Bulbous nose | |
| HP:0012385 | Camptodactyly | |
| HP:0000453 | Choanal atresia | |
| HP:0000452 | Choanal stenosis | |
| HP:0030084 | Clinodactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002967 | Cubitus valgus | |
| HP:0030349 | Decreased circulating androgen level | |
| HP:0031100 | Decreased inhibin B level | |
| HP:0010862 | Delayed fine motor development | |
| HP:0000823 | Delayed puberty | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0002980 | Femoral bowing | |
| HP:0001371 | Flexion contracture | |
| HP:0002007 | Frontal bossing | |
| HP:0025486 | Fused labia majora | |
| HP:0002705 | High, narrow palate | |
| HP:0003041 | Humeroradial synostosis | |
| HP:0000238 | Hydrocephalus | |
| HP:0000822 | Hypertension | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000047 | Hypospadias | |
| HP:0032362 | Increased circulating corticosterone level | |
| HP:0040253 | Increased size of the clitoris | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0011302 | Long palm | |
| HP:0000369 | Low-set ears | |
| HP:0008072 | Maternal virilization in pregnancy | |
| HP:0009701 | Metacarpal synostosis | |
| HP:0001440 | Metatarsal synostosis | |
| HP:0000054 | Micropenis | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0000160 | Narrow mouth | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0000786 | Primary amenorrhea | |
| HP:0006439 | Radioulnar dislocation | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0001838 | Rocker bottom foot | |
| HP:0002650 | Scoliosis | |
| HP:0010049 | Short metacarpal | |
| HP:0003196 | Short nose | |
| HP:0006118 | Shortening of all distal phalanges of the fingers | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0003826 | Stillbirth | |
| HP:0001883 | Talipes | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000262 | Turricephaly | |
| HP:0003049 | Ulnar deviation of the wrist | |
| HP:0000260 | Wide anterior fontanel | |
| Very rare (<4-1%) | ||
| HP:0011403 | Abnormal umbilical cord blood vessels | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0002308 | Chiari malformation | |
| HP:0002019 | Constipation | |
| HP:0010946 | Dilatation of the renal pelvis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0007466 | Midfrontal capillary hemangioma | |
| HP:0005892 | Proximal tibial and fibular fusion | |
| HP:0008368 | Tarsal synostosis | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31888681[PMID]_20301592[PMID]_3312397[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95699
- This record as JSON: /data/d/95699.json