ORPHA:664438
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Synonyms: Liang-Wang syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome | Liang-Wang syndrome |
| fr | Syndrome de fibromatose gingivale-dilatation de la racine de l'aorte-dysmorphie faciale-déficience intellectuelle | Syndrome de Liang-Wang |
| de | Gingivafibromatose-Aortenwurzeldilatation-Gesichtsdysmorphien-Intelligenzminderung-Syndrom | Liang-Wang-Syndrom |
| es | Síndrome de fibromatosis gingival-dilatación de la raíz aórtica-dismorfia facial-discapacidad intelectual | Síndrome de Liang-Wang |
| it | Sindrome fibromatosi gengivale-dilatazione della radice dellaorta-dismorfismi facciali-disabilità intellettiva | Sindrome di Liang-Wang |
| nl | Gingivafibromatose - dilatatie van aortawortel - faciale dysmorfie - intellectuele achterstand-syndroom | Syndroom van Liang-Wang |
| pt | Síndrome de fibromatose gengival-dilatação do arco aórtico-dismorfia facial-perturbação do desenvolvimento intelectual | Síndrome Liang-Wang |
| pl | Zespół włókniakowatości dziąseł, poszerzenia korzenia aorty, dysmorfii twarzy i niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující gingivální fibromatózu, dilataci kořene aorty, faciální dysmorfii a intelektovou nedostatečnost | = en |
| uk | Синдром фіброматозу ясен-розширення кореня аорти-дизморфізму обличчя- інтелектуальної недостатності | Синдром Лян-Ванга |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618729 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.Y | NTBT | attributed | validated |
| MONDO | 0032886 | E | validated | |
| MONDO | 32886 | E | validated | |
| UMLS | C5231479 | 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:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNMA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6284 | ENSG00000156113 | 600150 | 10q22.3 | potassium calcium-activated channel subfamily M alpha 1 | 311521168[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/664438
- This record as JSON: /data/d/664438.json