ORPHA:457279
Houge-Janssens syndrome type 1
Synonyms: PPP2R5D-related Houge-Janssens syndrome · PPP2R5D-related neurodevelopmental disorder · HJS1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Houge-Janssens syndrome type 1 | PPP2R5D-related Houge-Janssens syndrome · PPP2R5D-related neurodevelopmental disorder · HJS1 |
| fr | Syndrome de Houge-Janssens type 1 | Syndrome de Houge-Janssens associé à PPP2R5D · Trouble du neurodéveloppement associé à PPP2R5D |
| de | Houge-Janssens-Syndrom Typ 1 | HJS1 · Neurologische Entwicklungsstörung, PPP2R5D-assoziierte |
| es | Síndrome de Houge-Janssens tipo 1 | SHJ1 · Síndrome de Houge-Janssens asociado al gen PPP2R5D · Trastorno del neurodesarrollo asociado al gen PPP2R5D |
| it | Sindrome di Houge-Janssens tipo 1 | Sindrome di Houge-Janssens correlata a PPP2R5D · HJS1 · Malattia del neurosviluppo correlata a PPP2R5D · Sindrome Houge-Janssens tipo 1 · Disturbo dello sviluppo neurologico associato al gene PPP2R5D |
| nl | Syndroom van Houge-Janssens type 1 | PPP2R5D-gerelateerde neurologische ontwikkelingsstoornis · HJS1 · PPP2R5D-gerelateerd syndroom van Houge-Janssen |
| pt | Síndrome de perturbação do desenvolvimento intelectual-macrocefalia-hipotonia-perturbação comportamental | Doença do neurodesenvolvimento PPP2R5D-realcionada · Síndrome Houge-Janssens 1 |
| pl | Zespół niepełnosprawności intelektualnej, wielkogłowia, hipotonii i zaburzeń zachowania | Zespół niepełnosprawności intelektualnej – makrocefalii – hipotonii – zaburzeń zachowania |
| cs | Syndrom zahrnující mentální retardaci, makrocefalii, hypotonii a poruchy chování | = en |
| uk | Синдром інтелектуальної недостатності-макроцефалії-гіпотонії-поведінкових відхилень | |
| zh | 智力障碍-巨颅畸形-肌张力低下-行为异常综合征 | |
| tr | Zihinsel yetersizlik-makrosefali-hipotoni-davranışsal anormallikler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616355 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014602 | E | validated | |
| UMLS | C4225354 | 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 (1):
- ORPHA:726644Houge-Janssens syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP2R5D | Disease-causing germline mutation(s) in | Assessed | HGNC:9312 | ENSG00000112640 | 601646 | 6p21.1 | protein phosphatase 2 regulatory subunit B'delta | 26168268[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 | 26168268[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_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.
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HPO phenotypes
61 annotations · validated 2019-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000256 | Macrocephaly | |
| HP:0001319 | Neonatal hypotonia | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000744 | Low frustration tolerance | |
| HP:0002465 | Poor speech | |
| HP:0002650 | Scoliosis | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0100702 | Arachnoid cyst | |
| HP:0001251 | Ataxia | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0011800 | Midface retrusion | |
| HP:0011220 | Prominent forehead | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0000325 | Triangular face | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0001137 | Alternating esotropia | |
| HP:0001284 | Areflexia | |
| HP:0000483 | Astigmatism | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0002028 | Chronic diarrhea | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0100350 | Contracture of the proximal interphalangeal joint of the 4th toe | |
| HP:0000268 | Dolichocephaly | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0001943 | Hypoglycemia | |
| HP:0011937 | Hypoplastic fifth toenail | |
| HP:0005216 | Impaired mastication | |
| HP:0000343 | Long philtrum | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001357 | Plagiocephaly | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001583 | Rotary nystagmus | |
| HP:0001250 | Seizure | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0002558 | Supernumerary nipple | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000260 | Wide anterior fontanel | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26576547[PMID]_25972378[PMID]_26168268[PMID]_25533962[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457279
- This record as JSON: /data/d/457279.json