RNU4-2-related autosomal dominant neurodevelopmental disorder
Synonyms: ReNU syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, syndromic neurodevelopmental disorder characterized by global development delay with absent/poor speech, mild to profound intellectual disability, hypotonia and microcephaly. Other common clinical manifestations include brain abnormalities, behavioral disturbances, seizures, ophthalmological and skeletal manifestations, feeding difficulties, weight gain problems and distinctive facial features.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RNU4-2-related autosomal dominant neurodevelopmental disorder | ReNU syndrome |
| fr | Trouble neurodéveloppemental autosomique dominant associé à RNU4-2 | Syndrome ReNU |
| de | RNU4-2-assoziierte neurologische Entwicklungsstörung | NEDHAFA · ReNU-Syndrom |
| es | Trastorno del neurodesarrollo autosómico dominante asociado a RNU4-2 | Síndrome ReNU |
| it | Malattia del neurosviluppo autosomica dominante correlata a RNU4-2 | Sindrome ReNU · Malattia del neurosviluppo-dismorfismi facciali-anomalie della sostanza bianca-bassa statura correlata a RNU4-2 |
| nl | RNU4-2-gerelateerde autosomaal dominante neurologische ontwikkelingsstoornis | ReNU-syndroom |
| pt | Doença do neurodesenvolvimento RNU4-2-relacionada - dismorfia facial - anomalias da substância branca - síndrome de baixa estatura | Síndrome do neurodesenvolvimento RNU4-2-relacionada |
| pl | Zaburzenie neurorozwojowe dziedziczone autosomalnie dominująco związane z RNU4-2 | = en |
| cs | RNU4-2 asociovaný syndrom zahrnující neurovývojovou poruchu, faciální dysmorfii, abnormality bílé hmoty a malý vzrůst | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relationE 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU4-2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10193 | ENSG00000202538 | 620823 | 12q24.31 | RNA, U4 small nuclear 2 | 38821540[PMID]_38645094[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 189 cases | Worldwide | Case(s) | Validated | 38859706[PMID]_38821540[PMID]_38991538[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38859706[PMID]_38821540[PMID]_38991538[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/686488
- This record as JSON: /data/d/686488.json