ORPHA:361
Familial glucocorticoid deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial glucocorticoid deficiency | |
| fr | Déficit isolé familial en glucocorticoïdes | |
| de | Glukokortikoid-Mangel, familiärer | |
| es | Deficiencia familiar de glucocorticoides | |
| it | Deficit familiare di glucocorticoidi | |
| nl | Familiale glucocorticoïddeficiëntie | |
| pt | Deficiência de glucocorticóides familiar | |
| pl | Rodzinny Niedobór glikokortykoidów | |
| cs | Familiární deficit glukokortikoidů | |
| uk | Сімейний дефіцит глюкокортикоїдів | |
| zh | 家族性糖皮质激素缺乏症 | |
| tr | Ailesel glukokortikoid eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202200 | E | validated | |
| OMIM | 202355 | BTNT | validated | |
| OMIM | 607398 | BTNT | validated | |
| OMIM | 609197 | BTNT | validated | |
| OMIM | 614736 | BTNT | validated | |
| OMIM | 617825 | BTNT | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0008733 | E | validated | |
| UMLS | C4054695 | E | validated | |
| GARD | 2498 | E | validated | |
| MedDRA | 10082603 | 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 (2):
- ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAR | Candidate gene tested in | Not yet assessed | HGNC:11359 | ENSG00000147465 | 600617 | 8p11.23 | steroidogenic acute regulatory protein | 19773404[PMID] |
| TXNRD2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18155 | ENSG00000184470 | 606448 | 22q11.21 | thioredoxin reductase 2 | 24601690[PMID] |
| MC2R | Disease-causing germline mutation(s) in | Assessed | HGNC:6930 | ENSG00000185231 | 607397 | 18p11.21 | melanocortin 2 receptor | 8069303[PMID]_17128564[PMID]_18492762[PMID] |
| MRAP | Disease-causing germline mutation(s) in | Assessed | HGNC:1304 | ENSG00000170262 | 609196 | 21q22.11 | melanocortin 2 receptor accessory protein | 15654338[PMID]_17893271[PMID]_20427498[PMID] |
| NNT | Disease-causing germline mutation(s) in | Assessed | HGNC:7863 | ENSG00000112992 | 607878 | 5p12 | nicotinamide nucleotide transhydrogenase | 22634753[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4953 / 100 000 | Ireland | Value and class | Validated | 18430777[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
36 annotations · validated 2019-05-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000846 | Adrenal insufficiency | Diagnostic criterion |
| HP:0008163 | Decreased circulating cortisol level | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0011043 | Abnormality of circulating adrenocorticotropin level | |
| HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0002615 | Hypotension | |
| HP:0031076 | Impaired cortisol response to insulin stimulation test | |
| HP:0012734 | Ketotic hypoglycemia | |
| Frequent (79-30%) | ||
| HP:0002039 | Anorexia | |
| HP:0012432 | Chronic fatigue | |
| HP:0002019 | Constipation | |
| HP:0002014 | Diarrhea | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0002153 | Hyperkalemia | |
| HP:0012605 | Hypernatriuria | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0002902 | Hyponatremia | |
| HP:0002719 | Recurrent infections | |
| HP:0000127 | Renal salt wasting | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0000826 | Precocious puberty | |
| HP:0000098 | Tall stature | |
| HP:0025451 | Testicular adrenal rest tumor | |
| Very rare (<4-1%) | ||
| HP:0000027 | Azoospermia | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0001249 | Intellectual disability | |
| HP:0100618 | Leydig cell neoplasia | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002445 | Tetraplegia | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 4302512[PMID]_7627261[PMID]_1320052[PMID]_15654338[PMID]_12384787[PMID]_22634753[PMID]_27129361[PMID]_24601690[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/361
- This record as JSON: /data/d/361.json