ORPHA:646278
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Synonyms: CDK13-related disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome | CDK13-related disorder |
| fr | Syndrome de retard de développement-déficience intellectuelle-dysmorphie faciale- malformations cardiaques congénitales associé à CDK13 | |
| de | CDK13-assoziierte Entwicklungsverzögerung-Intelligenzminderung-Gesichtsdysmorphien-kongenitale Herzfehler-Syndrom | CDK13-assoziierte Störung |
| es | Síndrome de trastornos del desarrollo-discapacidad intelectual-dismorfia facial-defectos cardíacos congénitos asociado a CDK13 | Trastorno asociado a CDK13 |
| it | Sindrome ritardo dello sviluppo-disabilità intellettiva-dismorfismi facciali-cardiopatie congenite correlata a CDK13 | Malattia correlata a CDK13 |
| nl | CDK13-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - faciale dysmorfie - congenitale hartdefecten-syndroom | CDK13-gerelateerde aandoening |
| pt | Síndrome de anomalias cardíacas congénitas-dismorfia facial-perturbação do desenvolvimento intelectual-CDK13-relacionada | Doença CDK13-relacionada |
| pl | Związany z CDK13 zespół wrodzonych wad serca - niepełnosprawności intelektualnej - dysmorfii twarzy | = en |
| cs | Syndrom související s CDK13 zahrnující vrozené srdeční defekty, intelektovou nedostatečnost a faciální dysmorfii | = en |
| uk | CDK13-повязаний синдром затримки розвитку-інтелектуальної недостатності-дизморфізму обличчя-вроджених вад серця | Захворювання, повязані з CDK13 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617360 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0044302 | E | validated | |
| UMLS | C5816700 | 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 (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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDK13 | Disease-causing germline mutation(s) in | Assessed | HGNC:1733 | ENSG00000065883 | 603309 | 7p14.1 | cyclin dependent kinase 13 | 35063350[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 27479907[PMID]_28807008[PMID]_29021403[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27479907[PMID]_28807008[PMID]_29021403[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/646278
- This record as JSON: /data/d/646278.json