ORPHA:708208
Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome
Synonyms: POLR2A-related neurodevelopmental disorder
- Type
- Malformation syndrome
- 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 | Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome | POLR2A-related neurodevelopmental disorder |
| fr | Syndrome de retard du développement-anomalies de la substance blanche-strabisme-infections récurrentes des voies respiratoires | Trouble du neurodéveloppement associé à POLR2A |
| de | Entwicklungsverzögerung-Anomalien der weißen Substanz-Strabismus-rezidivierende Atemwegsinfektionen-Syndrom | Neurologische Entwicklungsstörung, POLR2A-assoziierte |
| es | Síndrome de retraso del desarrollo-anomalías de la sustancia blanca-estrabismo-infecciones recurrentes de las vías respiratorias | Trastorno del neurodesarrollo asociado a POLR2A |
| it | Sindrome ritardo dello sviluppo-anomalie della sostanza bianca-strabismo-infezioni ricorrenti delle vie respiratorie | Malattia del neurosviluppo correlata a POLR2A |
| nl | Ontwikkelingsachterstand - wittestofafwijkingen - strabisme - recidiverende luchtweginfecties-syndroom | POLR2A-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome | |
| pl | Zespół z opóźnieniem rozwoju, nieprawidłowościami istoty białej, zezem i nawracającymi infekcjami dróg oddechowych | = en |
| cs | Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618603 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLR2A | Disease-causing germline mutation(s) in | Assessed | HGNC:9187 | ENSG00000181222 | 180660 | 17p13.1 | RNA polymerase II subunit A | 31353023[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 31353023[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31353023[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/708208
- This record as JSON: /data/d/708208.json