Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | |
| fr | Insuffisance surrénalienne héréditaire isolée par déficit partiel en CYP11A1 | |
| de | Nebenniereninsuffizienz, isolierte vererbte, durch CYP11A1-Mangel | CYP11A1-Mangel, partieller |
| es | Insuficiencia suprarrenal hereditaria aislada por deficiencia de CYP11A1 | |
| it | Insufficienza isolata ereditaria del surrene da deficit parziale di CYP11A1 | |
| nl | Overgeërfde geïsoleerde adrenale insufficiëntie door CYP11A1-deficiëntie | Overgeërfde geïsoleerde bijnierinsufficiëntie door CYP11A1-deficiëntie |
| pt | Insuficiência supra-renal isolada hereditária por deficiência parcial de CYP11A1 | |
| pl | Dziedziczna izolowana niedoczynność nadnerczy z powodu niedoboru CYP11A1 | |
| cs | Dědičná izolovaná insuficience nadledvin způsobená deficitem CYP11A1 | |
| uk | Спадкова ізольована недостатність надниркових залоз внаслідок часткового дефіциту CYP11A1 | |
| zh | Cyp11a1基因部分缺陷所致遗传性孤立性肾上腺功能不全 | |
| tr | Kısmi CYP11A1 eksikliğine bağlı kalıtsal izole adrenal yetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613743 | NTBT | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | attributed | validated |
| MONDO | 0017337 | E | validated | |
| UMLS | C4707238 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP11A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2590 | ENSG00000140459 | 118485 | 15q24.1 | cytochrome P450 family 11 subfamily A member 1 | 21880796[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
52 annotations · validated 2015-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012244 | Abnormal sex determination | |
| HP:0012598 | Abnormal urine potassium concentration | |
| HP:0003107 | Abnormality of cholesterol metabolism | |
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0010789 | Abnormality of the Leydig cells | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0001941 | Acidosis | |
| HP:0011749 | Adrenocorticotropic hormone excess | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0000028 | Cryptorchidism | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0030349 | Decreased circulating androgen level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0000144 | Decreased fertility | |
| HP:0008734 | Decreased testicular size | |
| HP:0001944 | Dehydration | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0007574 | Generalized bronze hyperpigmentation | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000771 | Gynecomastia | |
| HP:0002153 | Hyperkalemia | |
| HP:0012605 | Hypernatriuria | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0011106 | Hypovolemia | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0000848 | Increased circulating renin level | |
| HP:0030369 | Induced vaginal delivery | |
| HP:0008073 | Low maternal serum estriol | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000939 | Osteoporosis | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000127 | Renal salt wasting | |
| HP:0012245 | Sex reversal | |
| HP:0100779 | Urogenital sinus anomaly | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0000142 | Abnormality of the vagina | |
| HP:0010512 | Adrenal calcification | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0012854 | Midshaft hypospadias | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21159840[PMID]_19116240[PMID]_16705068[PMID]_18182448[PMID]_11502818[PMID]_12161514[PMID]_15507506[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289548
- This record as JSON: /data/d/289548.json