congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

MONDO:0013310Mondo

Findings

No curated finding names congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

Definition from the Mondo Disease Ontology (MONDO:0013310), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Stillbirth

Features

106 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal response to ACTH stimulation testHPOHP:0031074
- Very frequent (80% to 99% of cases)
Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
Abnormal circulating pregnenolone concentrationHPOHP:0031187
- Frequent (30% to 79% of cases)
Abnormal external genitalia morphologyHPOHP:0000811
- Frequent (30% to 79% of cases)
Abnormal female external genitalia morphologyHPOHP:0000055
- Frequent (30% to 79% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

PORHGNC:9208
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: congenital adrenal hyperplasia
reproductive system disorder

Other names

3 names

Resolves to: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Also called: congenital adrenal hyperplasia due to cytochrome POR deficiencyPOR deficiencyPORD

Show the remaining 94

Decreased fertilityHPOHP:0000144
- Frequent (30% to 79% of cases)
Decreased serum estradiolHPOHP:0008214
- Frequent (30% to 79% of cases)
Elbow ankylosisHPOHP:0003070
- Frequent (30% to 79% of cases)
Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
Elevated circulating 17-hydroxyprogesterone concentrationHPOHP:0031213
- Frequent (30% to 79% of cases)
HirsutismHPOHP:0001007
- Frequent (30% to 79% of cases)
Increased circulating ACTH levelHPOHP:0003154
- Frequent (30% to 79% of cases)
Increased circulating progesteroneHPOHP:0031216
- Frequent (30% to 79% of cases)
Limited elbow extensionHPOHP:0001377
- Frequent (30% to 79% of cases)
OligozoospermiaHPOHP:0000798
- Frequent (30% to 79% of cases)
Polycystic ovariesHPOHP:0000147
- Frequent (30% to 79% of cases)
Abnormal antihelix morphologyHPOHP:0009738
- Occasional (5% to 29% of cases)
Abnormal earlobe morphologyHPOHP:0000363
- Occasional (5% to 29% of cases)
Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
Abnormal foot morphologyHPOHP:0001760
- Occasional (5% to 29% of cases)
Abnormal metacarpal epiphysis morphologyHPOHP:0005913
- Occasional (5% to 29% of cases)
Abnormal metacarpophalangeal joint morphologyHPOHP:0011911
- Occasional (5% to 29% of cases)
Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
Abnormal vertebral morphologyHPOHP:0003468
- Occasional (5% to 29% of cases)
Abnormality of the handHPOHP:0001155
- Occasional (5% to 29% of cases)
Abnormality of the wristHPOHP:0003019
- Occasional (5% to 29% of cases)
Ambiguous genitaliaHPOHP:0000062
- Occasional (5% to 29% of cases)
ArachnodactylyHPOHP:0001166
- Occasional (5% to 29% of cases)
Bowing of the long bonesHPOHP:0006487
- Occasional (5% to 29% of cases)
BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
Bulbous noseHPOHP:0000414
- Occasional (5% to 29% of cases)
CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
Choanal atresiaHPOHP:0000453
- Occasional (5% to 29% of cases)
Choanal stenosisHPOHP:0000452
- Occasional (5% to 29% of cases)
ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
CraniosynostosisHPOHP:0001363
- Occasional (5% to 29% of cases)
CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
Cubitus valgusHPOHP:0002967
- Occasional (5% to 29% of cases)
Decreased circulating androgen concentrationHPOHP:0030349
- Occasional (5% to 29% of cases)
Decreased circulating inhibin B concentrationHPOHP:0031100
- Occasional (5% to 29% of cases)
Delayed fine motor developmentHPOHP:0010862
- Occasional (5% to 29% of cases)
Delayed pubertyHPOHP:0000823
- Occasional (5% to 29% of cases)
Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
Disproportionate tall statureHPOHP:0001519
- Occasional (5% to 29% of cases)
Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Occasional (5% to 29% of cases)
Elevated circulating luteinizing hormone levelHPOHP:0011969
- Occasional (5% to 29% of cases)
Enlarged polycystic ovariesHPOHP:0008675
- Occasional (5% to 29% of cases)
Femoral bowingHPOHP:0002980
- Occasional (5% to 29% of cases)
Flexion contractureHPOHP:0001371
- Occasional (5% to 29% of cases)
Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
Fused labia majoraHPOHP:0025486
- Occasional (5% to 29% of cases)
High, narrow palateHPOHP:0002705
- Occasional (5% to 29% of cases)
Humeroradial synostosisHPOHP:0003041
- Occasional (5% to 29% of cases)
HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
Hypoplastic scapulaeHPOHP:0000882
- Occasional (5% to 29% of cases)
HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
Increased circulating corticosterone levelHPOHP:0032362
- Occasional (5% to 29% of cases)
Increased size of the clitorisHPOHP:0040253
- Occasional (5% to 29% of cases)
Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
Long palmHPOHP:0011302
- Occasional (5% to 29% of cases)
Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
Metacarpal synostosisHPOHP:0009701
- Occasional (5% to 29% of cases)
Metatarsal synostosisHPOHP:0001440
- Occasional (5% to 29% of cases)
MicropenisHPOHP:0000054
- Occasional (5% to 29% of cases)
Midface retrusionHPOHP:0011800
- Occasional (5% to 29% of cases)
Narrow chestHPOHP:0000774
- Occasional (5% to 29% of cases)
Narrow mouthHPOHP:0000160
- Occasional (5% to 29% of cases)
Narrow pelvis boneHPOHP:0003275
- Occasional (5% to 29% of cases)
Primary amenorrheaHPOHP:0000786
- Occasional (5% to 29% of cases)
Radioulnar dislocationHPOHP:0006439
- Occasional (5% to 29% of cases)
Radioulnar synostosisHPOHP:0002974
- Occasional (5% to 29% of cases)
Rocker bottom footHPOHP:0001838
- Occasional (5% to 29% of cases)
ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
Short metacarpalHPOHP:0010049
- Occasional (5% to 29% of cases)
Short noseHPOHP:0003196
- Occasional (5% to 29% of cases)
Shortening of all distal phalanges of the fingersHPOHP:0006118
- Occasional (5% to 29% of cases)
Stenosis of the external auditory canalHPOHP:0000402
- Occasional (5% to 29% of cases)
TalipesHPOHP:0001883
- Occasional (5% to 29% of cases)
Talipes equinovarusHPOHP:0001762
- Occasional (5% to 29% of cases)
TurricephalyHPOHP:0000262
- Occasional (5% to 29% of cases)
Ulnar deviation of the wristHPOHP:0003049
- Occasional (5% to 29% of cases)
Wide anterior fontanelHPOHP:0000260
- Occasional (5% to 29% of cases)
Abnormal umbilical cord blood vessel morphologyHPOHP:0011403
- Very rare (1% to 4% of cases)
Abnormality of the urinary systemHPOHP:0000079
- Very rare (1% to 4% of cases)
Anteriorly placed anusHPOHP:0001545
- Very rare (1% to 4% of cases)
Chiari malformationHPOHP:0002308
- Very rare (1% to 4% of cases)
ConstipationHPOHP:0002019
- Very rare (1% to 4% of cases)
Dilatation of the renal pelvisHPOHP:0010946
- Very rare (1% to 4% of cases)
Gastroesophageal refluxHPOHP:0002020
- Very rare (1% to 4% of cases)
Midfrontal capillary hemangiomaHPOHP:0007466
- Very rare (1% to 4% of cases)
Proximal tibial and fibular fusionHPOHP:0005892
- Very rare (1% to 4% of cases)
Tarsal synostosisHPOHP:0008368
- Very rare (1% to 4% of cases)
Unilateral renal agenesisHPOHP:0000122
- Very rare (1% to 4% of cases)
Vesicoureteral refluxHPOHP:0000076
- Very rare (1% to 4% of cases)