RERE-related neurodevelopmental syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RERE-related neurodevelopmental syndrome | |
| fr | Trouble neurologique du développement associé à RERE | |
| de | RERE-assoziierte neurologische Entwicklungsstörung | |
| es | Síndrome de neurodesarrollo asociado al gen RERE | |
| it | Sindrome del neurosviluppo correlata a RERE | |
| nl | RERE-gerelateerd neurologische ontwikkelingssyndroom | |
| pt | Síndrome do neurodesenvolvimento RERE-relacionada | |
| pl | Zespół nerwowo-rozwojowy związany z RERE | |
| cs | RERE-vázaný neurovývojový syndrom | |
| uk | Повязаний з RERE синдром порушення нейророзвитку | |
| zh | RERE相关神经发育综合征 | |
| tr | RERE -ilişkili nörogelişimsel sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616975 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014857 | E | validated | |
| MONDO | 14857 | E | validated | |
| UMLS | C5567477 | 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 (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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RERE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9965 | ENSG00000142599 | 605226 | 1p36.23 | arginine-glutamic acid dipeptide repeats | 27087320[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 27087320[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27087320[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
52 annotations · validated 2020-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008897 | Postnatal growth retardation | |
| Occasional (29-5%) | ||
| HP:0031910 | Abnormal cranial nerve physiology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0012803 | Anisometropia | |
| HP:0000463 | Anteverted nares | |
| HP:0000483 | Astigmatism | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000581 | Blepharophimosis | |
| HP:0011229 | Broad eyebrow | |
| HP:0007305 | CNS demyelination | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000453 | Choanal atresia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000028 | Cryptorchidism | |
| HP:0002015 | Dysphagia | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0000577 | Exotropia | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0001385 | Hip dysplasia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000612 | Iris coloboma | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0000659 | Peters anomaly | |
| HP:0002033 | Poor suck | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
Annotation source: 30896913[PMID]_27087320[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494344
- This record as JSON: /data/d/494344.json