ORPHA:199296
Congenital isolated ACTH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital isolated ACTH deficiency | |
| fr | Déficit congénital isolé en ACTH | |
| de | ACTH-Mangel, isolierter, kongenitaler | |
| es | Deficiencia de ACTH congénita aislada | |
| it | Deficit congenito isolato di ACTH | |
| nl | Congenitale geïsoleerde ACTH-deficiëntie | |
| pt | Deficiência isolada de ACTH congénita | |
| pl | Wrodzony izolowany Niedobór ACTH | |
| cs | Vrozený izolovaný deficit ACTH | |
| uk | Вроджений ізольований дефіцит АКТГ | |
| zh | 先天性孤立性促肾上腺皮质激素缺乏症 | |
| tr | Doğumsal izole ACTH eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201400 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0008720 | E | validated | |
| UMLS | C4055196 | E | validated | |
| GARD | 5727 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95488Non-acquired pituitary hormone deficiency
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 |
|---|---|---|---|---|---|---|---|---|
| TBX19 | Disease-causing germline mutation(s) in | Assessed | HGNC:11596 | ENSG00000143178 | 604614 | 1q24.2 | T-box transcription factor 19 | 15476446[PMID]_15613420[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
11 annotations · validated 2016-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0001998 | Neonatal hypoglycemia | |
| Very frequent (99-80%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0012378 | Fatigue | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| Frequent (79-30%) | ||
| HP:0002173 | Hypoglycemic seizures | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Occasional (29-5%) | ||
| HP:0012115 | Hepatitis | |
| Excluded (0%) | ||
| HP:0002153 | Hyperkalemia | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 15525497[PMID]_11290323[PMID]_22170728[PMID]_15666849[PMID]_15476446[PMID]_15613420[PMID]_16390921[PMID]_8008696[PMID]_6314808[PMID]_4295129[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199296
- This record as JSON: /data/d/199296.json