ORPHA:714385
Global developmental delay-high pain tolerance-intellectual disability syndrome
Synonyms: DEAF1-related autosomal dominant neurodevelopmental disorder · Vulto-van Silfout-de Vries syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-high pain tolerance-intellectual disability syndrome | DEAF1-related autosomal dominant neurodevelopmental disorder · Vulto-van Silfout-de Vries syndrome |
| fr | Syndrome de retard global de développement-tolérance élevée à la douleur-déficience intellectuelle | Syndrome de Vulto-van Silfout-de Vries · Trouble du neurodéveloppement autosomique dominant associé à DEAF1 |
| de | Globale Entwicklungsverzögerung-Hohe Schmerztoleranz-Intelligenzminderung-Syndrom | DEAF1-assoziierte autosomal-dominante neurologische Entwicklungsstörung · Vulto-van Silfout-de Vries-Syndrom |
| es | Síndrome de retraso global del desarrollo-alta tolerancia al dolor-discapacidad intelectual | Síndrome de Vulto-van Silfout-de Vries · Trastorno del neurodesarrollo asociado a DEAF1 autosómico dominante · Trastorno del neurodesarrollo autosómico dominante asociado a DEAF-1 |
| it | Sindrome ritardo dello sviluppo globale-elevata tolleranza al dolore-disabilità intellettiva | Malattia del neurosviluppo autosomica dominante correlata a DEAF1 · Sindrome di Vulto-van Silfout-de Vries |
| nl | Algehele ontwikkelingsachterstand - hoge pijntolerantie - intellectuele achterstand-syndroom | DEAF1-gerelateerde autosomaal dominante neurologische ontwikkelingsstoornis · Syndroom van Vulto-van Silfout-de Vries |
| pt | Global developmental delay-high pain tolerance-intellectual disability syndrome | |
| pl | Zespół globalnego opóźnienia rozwoju, wysokiej tolerancja bólu i niepełnosprawności intelektualnej | = en |
| cs | Global developmental delay-high pain tolerance-intellectual disability syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615828 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DEAF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14677 | ENSG00000177030 | 602635 | 11p15.5 | DEAF1 transcription factor | 24726472[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 24726472[PMID]_38073621[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24726472[PMID]_38073621[PMID]_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
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/714385
- This record as JSON: /data/d/714385.json