ORPHA:692173
Marbach-Schaaf neurodevelopmental syndrome
Synonyms: Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS
- Type
- Disease
- 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
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marbach-Schaaf neurodevelopmental syndrome | Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS |
| fr | Syndrome neurodéveloppemental de Marbach-Schaaf | MASNS · Syndrome de retard global du développement-hypotonie-tolérance élevée à la douleur · Syndrome du neuro-développement de Marbach-Schaaf |
| de | Marbach-Schaaf-Syndrom | MASNS · PRKAR1B-assoziierte neurologische Entwicklungsstörung · Syndrom der globale Entwicklungsverzögerung mit Hypotonie und hoher Schmerztoleranz |
| es | Síndrome de Marbach-Schaaf del neurodesarrollo | MASNS · Síndrome de retraso global del desarrollo-hipotonía-alta tolerancia al dolor |
| it | Malattia del neurosviluppo di Marbach-Schaaf | Sindrome ritardo dello sviluppo globale-ipotonia-elevata tolleranza al dolore · MASNS |
| nl | Neurologisch ontwikkelingssyndroom van Marbach-Schaaf | Algehele ontwikkelingsachterstand - hypotonie - hoge pijntolerantie-syndroom · MASNS |
| pt | Síndrome Marbach-Schaaf do neurodesenvolvimento | MASNS · Síndrome de atraso global do desenvolvimento-hipotonia-elevada tolerância à dor |
| pl | Zespół neurorozwojowy Marbacha-Schaafa | = en |
| cs | Marbach-Schaafův neurovývojový syndrom | Marbachův-Schaafův neurovývojový syndrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619680 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| PRKAR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:9390 | ENSG00000188191 | 176911 | 7p22.3 | protein kinase cAMP-dependent type I regulatory subunit beta | 33833410[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 33833410[PMID]_35789103[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33833410[PMID]_35789103[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/692173
- This record as JSON: /data/d/692173.json