ORPHA:689408
Shashi-Pena syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Shashi-Pena syndrome | |
| fr | Syndrome de Shashi-Pena | |
| de | Shashi-Pena-Syndrom | ASXL2-assoziierte neurologische Entwicklungsstörung · SHAPNS |
| es | Síndrome de Shashi-Pena | |
| it | Sindrome di Shashi-Pena | |
| nl | Syndroom van Shashi-Pena | |
| pt | Síndrome Shashi-Pena | |
| pl | Zespół Shashi-Pena | |
| cs | Syndrom Shashi-Penaové | Syndrom Shashiové-Penaové |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617190 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| MONDO | 14963 | 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 (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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23805 | ENSG00000143970 | 612991 | 2p23.3 | ASXL transcriptional regulator 2 | 27693232[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 39527683[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39527683[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/689408
- This record as JSON: /data/d/689408.json