Houge-Janssens syndrome type 2
Synonyms: HJS2 · PPP2R1A-related neurodevelopmental disorder · PPP2R1A-related Houge-Janssens syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Houge-Janssens syndrome type 2 | HJS2 · PPP2R1A-related neurodevelopmental disorder · PPP2R1A-related Houge-Janssens syndrome |
| fr | Syndrome de Houge-Janssens type 2 | Trouble du neurodéveloppement associé à PPP2R1A · Syndrome de Houge-Janssens associé à PPP2R1A |
| de | Houge-Janssens-Syndrom Typ 2 | Neurologische Entwicklungsstörung, PPP2R1A-assoziierte · HJS2 · Houge-Janssens-Syndrom Typ 2 |
| es | Síndrome de Houge-Janssens tipo 2 | SHJ2 · Síndrome de Houge-Janssens asociado al gen PPP2R1A · Trastorno del neurodesarrollo asociado al gen PPP2R1A |
| it | Sindrome di Houge-Janssens tipo 2 | Sindrome di Houge-Janssens correlata a PPP2R1A · Sindrome Houge-Janssens tipo 2 · HJS2 · Malattia del neurosviluppo correlata a PPP2R1A |
| nl | Syndroom van Houge-Janssens type 2 | PPP2R1A-gerelateerde neurologische ontwikkelingsstoornis · PPP2R1A-gerelateerd syndroom van Houge-Janssen · HJS2 |
| pt | Síndrome de microcefalia-hipoplasia do corpo caloso-perturbação do desenvolvimento intelectual-dismorfia facial | |
| pl | Zespół małogłowia, hipoplazji ciała modzelowatego, niepełnosprawności intelektualnej i dysmorfii twarzy | Zespół małogłowia – hipoplazji spoidła wielkiego – niepełnosprawności intelektualnej – dysmorfii twarzy |
| cs | Syndrom zahrnující mikrocefalii, hypoplázii corpus callosum, mentální retardaci a faciální dysmorfismus | = en |
| uk | Синдром мікроцефалії-гіпоплазії мозолистого тіла-інтелектуальної недостатності-дисморфізму обличчя | |
| zh | 小头畸形-胼胝体发育不良-智力发育不良-面部畸形综合征 | |
| tr | Mikrosefali-korpus kallozum hipoplazisi-zihinsel yetersizlik-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616362 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014605 | E | validated | |
| UMLS | C4225352 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:726644Houge-Janssens syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP2R1A | Disease-causing germline mutation(s) in | Assessed | HGNC:9302 | ENSG00000105568 | 605983 | 19q13.41 | protein phosphatase 2 scaffold subunit Aalpha | 26168268[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25533962[PMID]_26168268[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25533962[PMID]_26168268[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
38 annotations · validated 2019-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0012448 | Delayed myelination | |
| HP:0000297 | Facial hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0000194 | Open mouth | |
| HP:0001357 | Plagiocephaly | |
| HP:0002465 | Poor speech | |
| HP:0002650 | Scoliosis | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0010721 | Abnormal hair whorl | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000463 | Anteverted nares | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0003250 | Aplasia of the vagina | |
| HP:0010055 | Broad hallux | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000324 | Facial asymmetry | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001385 | Hip dysplasia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000752 | Hyperactivity | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0100259 | Postaxial polydactyly | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0025607 | Upper eyelid entropion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 31687265[PMID]_25533962[PMID]_26168268[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457284
- This record as JSON: /data/d/457284.json