ORPHA:2808
Laryngeal abductor paralysis
Synonyms: Familial vocal cord dysfunction · Gerhardt syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laryngeal abductor paralysis | Familial vocal cord dysfunction · Gerhardt syndrome |
| fr | Paralysie des muscles du larynx | Dysjonction familiale des cordes vocales · Syndrome de Gerhardt |
| de | Kehlkopfmuskulatur, Lähmung der | Abduktorenlähmung, laryngeale · Gerhardt-Syndrom · Stimmbanddysfunktion, familiäre |
| es | Parálisis de músculos de laringe | Disfunción familiar de las cuerdas vocales · Síndrome de Gerhardt |
| it | Paralisi dei muscoli della laringe | Disgiunzione familiare delle corde vocali · Sindrome di Gerhardt |
| nl | Paralyse van abductor van larynx | Familiale disfunctie van stemband · Syndroom van Gerhardt · Verlamming van abductor van strottenhoofd |
| pt | Parésia do abdutor laríngeo | Disfunção das cordas vocais tipo familiar · Síndrome Gerhardt |
| pl | Paraliż mięśnia odwodziciela krtani | Rodzinna dysfunkcja fałdu głosowego · Zespół Gerhardta |
| cs | Paralýza laryngeálního abduktoru | Familiární dysfunkce hlasivek · Gerhardtův syndrom |
| uk | Параліч абдукторів гортані | Сімейна дисфункція голосових звязок · Синдром Герхардта |
| zh | 喉外展肌麻痹 | 家族性声带功能障碍 |
| tr | Laringeal abdüktör paralizi | Gerhardt sendromu · Ailesel ses teli disfonksiyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150260 | E | validated | |
| ICD-10 | J38.0 | NTBT | attributed | validated |
| ICD-11 | LA71.Y | NTBT | index | validated |
| MONDO | 0007876 | E | validated | |
| MeSH | C536354 | E | validated | |
| UMLS | C0396059 | E | validated | |
| GARD | 5509 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:435609Genetic larynx anomaly
rare genetic diseases - ORPHA:156249Larynx anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 2277390[PMID]_7149532[PMID]_4058983[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2277390[PMID]_7149532[PMID]_4058983[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.
6
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001601 | Laryngomalacia | |
| Frequent (79-30%) | ||
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2808
- This record as JSON: /data/d/2808.json