ORPHA:930
Idiopathic achalasia
Synonyms: Achalasia cardia · Idiopathic achalasia of esophagus · Primary achalasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic achalasia | Achalasia cardia · Idiopathic achalasia of esophagus · Primary achalasia |
| fr | Achalasie oesophagienne idiopathique | Achalasie du cardia · Achalasie idiopathique de l'oesophage · Achalasie primaire de l'oesophage · Achalasie primitive de l'oesophage · Mégaoesophage idiopathique |
| de | Achalasie, idiopathische | Achalasie, primäre · Idiopathische Achalasie des Ösophagus · Kardiaachalasie |
| es | Acalasia idiopática | Acalasia del cardias · Acalasia idiopática del esófago · Acalasia primaria |
| it | Acalasia idiopatica | Acalasia del cardias · Acalasia idiopatia dell'esofago · Acalasia primitiva |
| nl | Idiopathische achalasie | Achalasia cardia · Idiopathische achalasie van de slokdarm · Primaire achalasie |
| pt | Acalasia idiopática | Acalasia esofágica familiar |
| pl | Achalazja idiopatyczna | Achalazja wpustu · Idiopatyczna achalazja przełyku · Pierwotna achalazja przełyku |
| cs | Idiopatická achalázie | Achalázie kardie · Idiopatické achalázie jícnu · Primární achalázie · Ezofagokardiální achalázie |
| uk | Ідіопатична ахалазія | Ахалазія серця · Ідіопатична ахалазія стравоходу · Первинна ахалазія |
| zh | 特发性贲门失弛缓症 | 特发性食管失弛缓症 |
| tr | İdiyopatik akalazya | Akalazya kardia · Primer akalazya · Yemek borusunun idiyopatik akalazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200400 | BTNT | validated | |
| ICD-10 | K22.0 | E | specific | validated |
| ICD-11 | DA21.0 | NTBT | index | validated |
| MONDO | 0019635 | E | validated | |
| MeSH | C536011 | E | validated | |
| UMLS | C0859976 | E | validated | |
| GARD | 5708 | E | validated | |
| MedDRA | 10036669 | 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:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99722OBSOLETE: Sporadic achalasia referred to · inactive
- ORPHA:99723OBSOLETE: Familial esophageal achalasia referred to · inactive
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRLF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2364 | ENSG00000006016 | 604237 | 19p12 | cytokine receptor like factor 1 | 27976805[PMID] |
| NOS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7872 | ENSG00000089250 | 163731 | 12q24.22 | nitric oxide synthase 1 | 25479138[PMID] |
| HLA-DQA1 | Major susceptibility factor in | Assessed | HGNC:4942 | ENSG00000196735 | 146880 | 6p21.32 | major histocompatibility complex, class II, DQ alpha 1 | 24997987[PMID] |
| HLA-DQB1 | Major susceptibility factor in | Assessed | HGNC:4944 | ENSG00000179344 | 604305 | 6p21.32 | major histocompatibility complex, class II, DQ beta 1 | 24997987[PMID] |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | 23871090[PMID] |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | Worldwide | Value and class | Validated | 11319059[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.82 / 100 000 | Canada | Value and class | Validated | 20465592[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.29 / 100 000 | Korea, Republic of | Value and class | Validated | 24753707[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.5 / 100 000 | Ireland | Value and class | Validated | 3423207[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.7 / 100 000 | Iceland | Value and class | Validated | 17420933[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.8 / 100 000 | Singapore | Value and class | Validated | 10482430[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.59 / 100 000 | Italy | Value and class | Validated | 21116729[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.73 / 100 000 | Iceland | Value and class | Validated | 17420933[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Singapore | Value and class | Validated | 10482430[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.39 / 100 000 | Korea, Republic of | Value and class | Validated | 24753707[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.63 / 100 000 | Canada | Value and class | Validated | 20465592[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.77 / 100 000 | Worldwide | Value and class | Validated | 11319059[PMID] |
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
10 annotations · validated 2020-02-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002015 | Dysphagia | |
| Frequent (79-30%) | ||
| HP:0012387 | Bronchitis | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0031085 | Decreased circulating prealbumin concentration | |
| HP:0004395 | Malnutrition | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0030828 | Wheezing | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23871090[PMID]_31451984[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/930
- This record as JSON: /data/d/930.json