X-linked adrenal hypoplasia congenita
Synonyms: X-linked AHC · X-linked congenital adrenal hypoplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked adrenal hypoplasia congenita | X-linked AHC · X-linked congenital adrenal hypoplasia |
| fr | Hypoplasie congénitale des surrénales liée à l'X | Hypoplasie surrénalienne congénitale liée à l'X |
| de | Nebennierenhypoplasie, kongenitale, X-chromosomale | X-chromosomale AHC |
| es | Hipoplasia suprarrenal congénita ligada al cromosoma X | |
| it | Ipoplasia congenita dei surreni legata all'X | Ipoplasia surrenalica congenita legata all'X |
| nl | X-gebonden congenitale bijnierhypoplasie | X-gebonden AHC · X-gebonden adrenale hypoplasia congenita |
| pt | Hipoplasia supra-renal congénita ligada ao X | AHC ligada ao X |
| pl | Wrodzona hipoplazja nadnerczy sprzężona z chromosomem X z powodu punktowej mutacji w NR0B1 | Wrodzona hipoplazja nadnerczy sprzężona z chromosomem X |
| cs | Cytomegalická vrozená adrenální hypoplázie | X-vázaná vrozená adrenální hypoplázie |
| uk | Вроджена гіпоплазія надниркових залоз, зчеплена з Х-хромосомою | Х-зчеплений AHC · Х-зчеплена вроджена гіпоплазія надниркових залоз |
| zh | 先天性巨细胞性肾上腺发育不全 | X染色体连锁遗传先天性肾上腺发育不全 |
| tr | Sitomegalik doğumsal adrenal hipoplazi | X'e bağlı doğumsal adrenal hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202155 | BTNT | validated | |
| OMIM | 300200 | E | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | LC80 | NTBT | index | validated |
| MONDO | 0010264 | E | validated | |
| UMLS | C0342482 | E | validated | |
| GARD | 555 | 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 (2):
- ORPHA:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR0B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7960 | ENSG00000169297 | 300473 | Xp21.2 | nuclear receptor subfamily 0 group B member 1 | 20301604[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Worldwide | Value and class | Validated | 20301604[PMID] |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | Worldwide | Value and class | Validated | 20301604[PMID]_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
24 annotations · validated 2024-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003154 | Increased circulating ACTH level | |
| Very frequent (99-80%) | ||
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0000953 | Hyperpigmentation of the skin | |
| Frequent (79-30%) | ||
| HP:0008186 | Adrenocortical cytomegaly | |
| HP:0030344 | Decreased circulating luteinizing hormone level | |
| HP:0046504 | Decreased libido | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0002014 | Diarrhea | |
| HP:0100639 | Erectile dysfunction | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0012378 | Fatigue | |
| HP:0002153 | Hyperkalemia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0002902 | Hyponatremia | |
| HP:0002018 | Nausea | |
| HP:0000798 | Oligozoospermia | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0002321 | Vertigo | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
| HP:0002225 | Sparse pubic hair | |
| HP:0001824 | Weight loss | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 37237297[PMID]_36160878[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95702
- This record as JSON: /data/d/95702.json