ORPHA:726644
Houge-Janssens syndrome
Synonyms: HJS · PP2A-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- 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 | HJS · PP2A-related neurodevelopmental disorder |
| fr | Syndrome de Houge-Janssens | Trouble du neurodéveloppement associé à PP2A |
| de | Houge-Janssens-Syndrom | HJS · PP2A-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de Houge-Janssens | SHJ · Trastorno del neurodesarrollo asociado al gen PP2A |
| it | Sindrome di Houge-Janssens | HJS · Malattia del neurosviluppo correlata a PP2A |
| nl | Syndroom van Houge-Janssens | PP2A-gerelateerde neurologische ontwikkelingsstoornis · HJS |
| pt | Houge-Janssens syndrome | |
| pl | Houge-Janssens syndrome | = en |
| cs | Houge-Janssens syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616355 | BTNT | validated | |
| OMIM | 616362 | BTNT | validated | |
| OMIM | 618354 | BTNT | validated | |
| OMIM | 621185 | BTNT | 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 (2):
- 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
4
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PPP2CA | ORPHA:726659Houge-Janssens syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9299 | ENSG00000113575 | 176915 | 5q31.1 | protein phosphatase 2 catalytic subunit alpha | 36531959[PMID]_39978342[PMID] |
| PPP2R1A | ORPHA:457284Houge-Janssens syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9302 | ENSG00000105568 | 605983 | 19q13.41 | protein phosphatase 2 scaffold subunit Aalpha | 26168268[PMID] |
| PPP2R5C | ORPHA:726667Houge-Janssens syndrome type 4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9311 | ENSG00000078304 | 601645 | 14q32.31 | protein phosphatase 2 regulatory subunit B'gamma | 25972378[PMID]_39978342[PMID] |
| PPP2R5D | ORPHA:457279Houge-Janssens syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9312 | ENSG00000112640 | 601646 | 6p21.1 | protein phosphatase 2 regulatory subunit B'delta | 26168268[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 230 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.
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/726644
- This record as JSON: /data/d/726644.json