ORPHA:662189
Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
Synonyms: HNRNPR-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | HNRNPR-related neurodevelopmental disorder |
| fr | Syndrome de trouble neurologique du développement-malformations cérébrales-dysmorphie facial-brachydactylie | Syndrome lié à HNRNPR |
| de | Neurologische Entwicklungsverzögerung-Hirnfehlbildung-Gesichtsdysmorphie-Brachydaktylie-Syndrom | Neurologische Entwicklungsstörung, HNRNPR-assoziierte |
| es | Síndrome de trastorno del neurodesarrollo-malformación cerebral-dismorfia facial-braquidactilia | Trastorno del neurodesarrollo asociado al gen HNRNPR |
| it | Malattia del neurosviluppo-malformazione cerebrale-dismorfismi facciali-brachidattilia | Malattia del neurosviluppo correlata a HNRNPR |
| nl | Neurologische ontwikkelingsstoornis - hersenmalformatie - faciale dysmorfie - brachydactylie-syndroom | HNRNPR-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Síndrome de doença do neurodesenvolvimento-malformação cerebral-dismorfia facial-braquidactilia | Doença do neurodesenvolvimento HNRNPR-relacionada |
| pl | Zespół z zaburzeniami neurorozwojowymi, malformacją mózgu, dysmorfią twarzy i brachydaktylią | = en |
| cs | Syndrom zahrnující neurovývojovou poruchu, malformaci mozku, faciální dysmorfii a brachydaktylii | = en |
| uk | Синдром порушення нейророзвитку-вад розвитку головного мозку-дизморфізму обличчя-брахідактилії | Повязане з HNRNPR порушення нейророзвитку |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620073 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0859297 | E | validated | |
| MONDO | 859297 | E | validated | |
| UMLS | C5925129 | 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: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 - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNRNPR | Disease-causing germline mutation(s) in | Assessed | HGNC:5047 | ENSG00000125944 | 607201 | 1p36.12 | heterogeneous nuclear ribonucleoprotein R | 31079900[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 31079900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31079900[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/662189
- This record as JSON: /data/d/662189.json