ORPHA:293978
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Synonyms: DAVID syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | DAVID syndrome |
| fr | Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable | Syndrome DAVID |
| de | Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom | DAVID-Syndrom |
| es | Síndrome de insuficiencia de la adenohipófisis-inmunodeficiencia variable | Síndrome DAVID · Síndrome de insuficiencia adenohipofisaria-inmunodeficiencia variable |
| it | Sindrome da deficit della funzione dell'ipofisi anteriore ed immunodeficienza variabile | Sindrome DAVID |
| nl | Disfunctie van adenohypofyse - variabele immuundeficiëntie-syndroom | DAVID-syndroom |
| pt | Síndrome de deficiência da função da adenohipófise-imunodeficiência variável | Síndrome DAVID |
| pl | Zespół Niedobór funkcji części przedniej przysadki-zmienny Niedobór odporności | Zespół DAVID |
| cs | Syndrom zahrnující deficit funkce adenohypofýzy a variabilní imunodeficienci | DAVID syndrom |
| uk | Синдром дефіциту функції передньої частки гіпофіза-варіабельного імунодефіциту | Синдром DAVID |
| zh | 垂体前叶功能缺陷-变异性免疫缺陷综合征 | 垂体前叶功能缺陷-变异性免疫缺陷综合征 |
| tr | Anterior hipofiz fonksiyonu eksikliği-değişken immün yetmezlik sendromu | DAVID sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615577 | NTBT | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | attributed | validated |
| MONDO | 0017407 | E | validated | |
| UMLS | C4751122 | 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:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:95495Disease associated with non-acquired combined 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 |
|---|---|---|---|---|---|---|---|---|
| NFKB2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7795 | ENSG00000077150 | 164012 | 10q24.32 | nuclear factor kappa B subunit 2 | 25524009[PMID]_24140114[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 22013103[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
38 annotations · validated 2016-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | |
| HP:0002920 | Decreased circulating ACTH level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0012378 | Fatigue | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0002837 | Recurrent bronchitis | |
| HP:0001988 | Recurrent hypoglycemia | |
| HP:0000403 | Recurrent otitis media | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0005365 | Severe B lymphocytopenia | |
| Frequent (79-30%) | ||
| HP:0004332 | Abnormal lymphocyte morphology | |
| HP:0012504 | Abnormal size of pituitary gland | |
| HP:0100803 | Abnormality of the periungual region | |
| HP:0001596 | Alopecia | |
| HP:0002110 | Bronchiectasis | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0030349 | Decreased circulating androgen level | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000651 | Diplopia | |
| HP:0001508 | Failure to thrive | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0100806 | Sepsis | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0002153 | Hyperkalemia | |
| HP:0100646 | Thyroiditis | |
| HP:0001045 | Vitiligo | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12269656[PMID]_1645668[PMID]_25524009[PMID]_22013103[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293978
- This record as JSON: /data/d/293978.json