ORPHA:726659
Houge-Janssens syndrome type 3
Synonyms: PPP2CA-related neurodevelopmental disorder · PPP2CA-related Houge-Janssens syndrome · HJS3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Houge-Janssens syndrome type 3 | PPP2CA-related neurodevelopmental disorder · PPP2CA-related Houge-Janssens syndrome · HJS3 |
| fr | Syndrome de Houge-Janssens type 3 | Trouble du neurodéveloppement associé à PPP2CA · Syndrome de Houge-Janssens associé à PPP2CA |
| de | Houge-Janssens-Syndrom Typ 3 | HJS3 · PPP2CA-assoziiertes Houge-Janssens-Syndrom · PPP2CA-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de Houge-Janssens tipo 3 | SHJ3 · Síndrome de Houge-Janssens asociado al gen PPP2CA · Trastorno del neurodesarrollo asociado al gen PPP2CA |
| it | Sindrome di Houge-Janssens tipo 3 | HJS3 · Sindrome di Houge-Janssens correlata a PPP2CA · Malattia del neurosviluppo correlata a PPP2CA |
| nl | Syndroom van Houge-Janssens type 3 | HJS3 · PPP2CA-gerelateerd syndroom van Houge-Janssens · PPP2CA-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Houge-Janssens syndrome type 3 | |
| pl | Houge-Janssens syndrome type 3 | = en |
| cs | Houge-Janssens syndrome type 3 | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618354 | 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 (1):
- ORPHA:726644Houge-Janssens syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP2CA | Disease-causing germline mutation(s) in | Assessed | HGNC:9299 | ENSG00000113575 | 176915 | 5q31.1 | protein phosphatase 2 catalytic subunit alpha | 36531959[PMID]_39978342[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/726659
- This record as JSON: /data/d/726659.json