ORPHA:600663
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | |
| fr | Syndrome de trouble neurodéveloppemental sévère-stéréotypies motrices-constipation chronique-trouble du rythme veille-sommeil associé à NRXN1 | |
| de | NRXN1-abhängige schwere neurologische Entwicklungsstörung-stereotype Bewegungsstörung-chronische Obstipation-Schlaf-Wach-Zyklus-Störung | |
| es | Trastorno del neurodesarrollo grave-estereotipias motoras-estreñimiento crónico-alteración del ciclo sueño-vigilia asociado al gen NRXN1 | |
| it | Malattia grave del neurosviluppo correlata a NRXN1- stereotipie motorie-costipazione cronica-anomalie del ciclo sonno-veglia | |
| nl | NRXN1-gerelateerd syndroom van ernstige neurologische ontwikkelingsstoornis - motorische stereotypie - chronische constipatie - stoornis van slaap-waakritme | |
| pt | Perturbação do neurodesenvolvimento grave-estereotipias motoras-obstipação crónica-alteração do ciclo sono-vigília NRXN1-relacionada | |
| pl | Poważne zaburzenia neurorozwojowe, stereotypie ruchowe, przewlekłe zaparcia, zaburzenia cyklu snu i czuwania związane z NRXN1 | |
| cs | Těžká neurovývojová porucha související s NRXN1, motorické stereotypie, chronická zácpa a poruchy cyklu spánek-bdění | |
| uk | NRXN1-повязане тяжке порушення нейророзвитку-рухові стереотипи-хронічний запор- порушення циклу сну та неспання | |
| zh | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | |
| tr | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614325 | E | validated | |
| ICD-10 | G96.8 | NTBT | attributed | validated |
| MONDO | 0035774 | E | validated | |
| UMLS | C5681528 | 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 (3):
- ORPHA:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological diseases - ORPHA:68354Rare sleep disorder
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| NRXN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8008 | ENSG00000179915 | 600565 | 2p16.3 | neurexin 1 | 25408897[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 30873608[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30873608[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/600663
- This record as JSON: /data/d/600663.json