ORPHA:659642
Rauch-Steindl syndrome
Synonyms: NSD2-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rauch-Steindl syndrome | NSD2-related syndrome |
| fr | Syndrome de Rauch-Steindl | Syndrome associé à NSD2 |
| de | Rauch-Steindl-Syndrom | NSD2-assoziiertes Syndrom |
| es | Síndrome de Rauch-Steindl | Síndrome asociado a NSD2 |
| it | Sindrome di Rauch-Steindl | Sindrome correlata a NSD2 |
| nl | Syndroom van Rauch-Steindl | NSD2-gerelateerd syndroom |
| pt | Síndrome Rauch-Steindl | Síndrome NSD2-relacionada |
| pl | Zespół Rauch-Steindl | = en |
| cs | Rauchové-Steindlové syndrom | Rauch-Steindlové syndrom |
| uk | Синдром Рауха-Штайндля | Синдром, повязаний з NSD2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619695 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 859219 | E | validated | |
| UMLS | C5562061 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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 - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NSD2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12766 | ENSG00000109685 | 602952 | 4p16.3 | nuclear receptor binding SET domain protein 2 | 33941880[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 29760529[PMID]_30345613[PMID]_29892088[PMID]_31171569[PMID]_31382906[PMID]_33276791[PMID]_33941880[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29760529[PMID]_30345613[PMID]_29892088[PMID]_31171569[PMID]_31382906[PMID]_33276791[PMID]_33941880[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.
6
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/659642
- This record as JSON: /data/d/659642.json