ORPHA:714399
Global developmental delay-dental enamel defects-ataxia syndrome
Synonyms: CTBP1-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, 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-dental enamel defects-ataxia syndrome | CTBP1-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-défauts de l'émail dentaire-ataxie | Trouble neurodéveloppemental associé à CTBP1 |
| de | Globale Entwicklungsverzögerung-Zahnschmelzdefekte-Ataxie-Syndrom | CTBP1-assoziierte neurologische Entwicklungsstörung · HADDTS |
| es | Síndrome de retraso global del desarrollo-defectos del esmalte dental-ataxia | Trastorno del neurodesarrollo asociado a CTBP1 |
| it | Sindrome ritardo dello sviluppo globale-difetti dello smalto dei denti-atassia | Malattia del neurosviluppo correlata a CTBP1 |
| nl | Algehele ontwikkelingsachterstand - defecten van tandglazuur - ataxie-syndroom | CTBP1-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-dental enamel defects-ataxia syndrome | |
| pl | Zespół globalnego opóźnienia rozwoju, wad szkliwa i ataksji | = en |
| cs | Global developmental delay-dental enamel defects-ataxia syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617915 | 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 (2):
- ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2494 | ENSG00000159692 | 602618 | 4p16.3 | C-terminal binding protein 1 | 27094857[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
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/714399
- This record as JSON: /data/d/714399.json