ORPHA:869
Triple A syndrome
Synonyms: 2A syndrome · 3A syndrome · 4A syndrome · AAA syndrome · Achalasia-addisonianism-alacrima syndrome · Adrenal insufficiency-achalasia-alacrima syndrome · Allgrove syndrome · Double A syndrome · Quaternary A syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Triple A syndrome | 2A syndrome · 3A syndrome · 4A syndrome · AAA syndrome · Achalasia-addisonianism-alacrima syndrome · Adrenal insufficiency-achalasia-alacrima syndrome · Allgrove syndrome · Double A syndrome · Quaternary A syndrome |
| fr | Syndrome triple A | Syndrome AAA · Syndrome d'Allgrove · Syndrome d'achalasie-addisonisme-alacrymie · Syndrome des 2A · Syndrome des 3A · Syndrome des 4A |
| de | Triple-A-Syndrom | 2A-Syndrom · 3A-Syndrom · 4A-Syndrom · AAA-Syndrom · Achalasie-Addisonismus-Alakrimie-Syndrom · Allgrove-Syndrom |
| es | Síndrome triple A | Síndrome doble A · Síndrome 2A · Síndrome 3A · Síndrome 4A · Síndrome A cuaternario · Síndrome AAA · Síndrome de Allgrove · Síndrome de acalasia-addisonismo-alacrimia · Síndrome de insuficiencia suprarrenal-acalasia-alacrimia |
| it | Sindrome della tripla A | Sindrome 2A · Sindrome 3A · Sindrome 4A · Sindrome AAA · Sindrome acalasia-addisonismo-alacrimia · Sindrome della doppia A · Sindrome delle quattro A · Sindrome di Allgrove · Sindrome insufficienza surrenalica-acalasia-alacrimia |
| nl | Triple A-syndroom | 2A-syndroom · 3A-syndroom · 4A-syndroom · AAA-syndroom · Achalasie - addisonianisme - alacrimie-syndroom · Adrenale insufficiëntie - achalasie - alacrimie-syndroom · Dubbel A-syndroom · Quaternair A-syndroom · Syndroom van Allgrove |
| pt | Síndrome triplo A | Síndrome 2A · Síndrome 3A · Síndrome 4A · Síndrome A quaternário · Síndrome AAA · Síndrome Allgrove · Síndrome de acalasia-addisonianismo-alacrimia · Síndrome de insuficiência supra-renal-acalasia-alacrimia · Síndrome duplo A |
| pl | Zespół potrójnego A | Niedoczynność nadnerczy - achalazja - alakrimia · Zespół 2A · Zespół 3A · Zespół 4A · Zespół AAA · Zespół achalazji, addisonizmu i alakrimii · Zespół Allgrove'a · Zespół poczwórnego A · Zespół podwójnego A |
| cs | Triple A syndrom | 2A syndrom · 3A syndrom · 4A syndrom · AAA syndrom · Achalázie, adrenální insuficience a alakrimie · Syndrom dvojitého A · Double A syndrom · Allgrovův syndrom · Syndrom čtverného A |
| uk | Синдром потрійного А | Синдром 2А · Синдром 3А · Синдром 4А · Синдром ААА · Синдром ахалазії-аддисонізму-алакрими · Синдром надниркової недостатності-ахалазії-алакрими · Синдром Олгроува · Синдром подвійного А · Синдром четвертинного А |
| zh | 三联A综合征 | 肾上腺功能减退-贲门失弛缓-无泪综合征 |
| tr | Triple A sendromu | 2A sendromu · 3A sendromu · 4A sendromu · AAA sendromu · Allgrove sendromu · Çift A sendromu · Kuaterner A sendromu · Akalazya-addisonyanizm-alakrima sendromu · Adrenal yetersizlik-akalazya-alakrima sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231550 | E | validated | |
| OMIM | 615510 | BTNT | validated | |
| ICD-10 | E27.4 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0009279 | E | validated | |
| MeSH | C536008 | E | validated | |
| UMLS | C0271742 | E | validated | |
| GARD | 457 | E | validated | |
| MedDRA | 10073592 | 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 (6):
- ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders - ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:371445Genetic syndromic esophageal malformation
rare genetic diseases - ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99777Achalasia-alacrimia syndrome moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GMPPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:22923 | ENSG00000144591 | 615495 | 2q35 | GDP-mannose pyrophosphorylase A | 24035193[PMID] |
| AAAS | Disease-causing germline mutation(s) in | Assessed | HGNC:13666 | ENSG00000094914 | 605378 | 12q13.13 | aladin WD repeat nucleoporin | 11159947[PMID]_20674935[PMID]_11815731[PMID] |
| TRAPPC11 | Disease-causing germline mutation(s) in | Assessed | HGNC:25751 | ENSG00000168538 | 614138 | 4q35.1 | trafficking protein particle complex subunit 11 | 27707803[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 14723589[PMID]_[EXPERT] | |
| 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
35 annotations · validated 2024-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002571 | Achalasia | |
| HP:0000846 | Adrenal insufficiency | |
| HP:0000522 | Alacrima | |
| HP:0007440 | Generalized hyperpigmentation | |
| Frequent (79-30%) | ||
| HP:0012735 | Cough | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001611 | Hypernasal speech | |
| HP:0001943 | Hypoglycemia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0002615 | Hypotension | |
| HP:0031078 | Impaired cortisol response to corticotropin releasing hormone stimulation test | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0004322 | Short stature | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0010486 | Abnormality of the hypothenar eminence | |
| HP:0001251 | Ataxia | |
| HP:0012804 | Corneal ulceration | |
| HP:0002376 | Developmental regression | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0000252 | Microcephaly | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0000648 | Optic atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0004319 | Decreased circulating aldosterone level | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32533814[PMID]_32809536[PMID]_36763264[PMID]_32481456[PMID]_78049[PMID]_27707803[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/869
- This record as JSON: /data/d/869.json