ORPHA:684240
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
Synonyms: KABAMAS · Kaya-Barakat-Masson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- 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 | Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome | KABAMAS · Kaya-Barakat-Masson syndrome |
| fr | Syndrome de trouble neurodéveloppemental-spasticité-mouvements anormaux-épilepsie | KABAMAS · Syndrome de Kaya-Barakat-Masson · Syndrome de trouble du neurodéveloppement-pasticité-mouvements anormaux-épilepsie |
| de | Neurologische Entwicklungsstörung-Spastik-Bewegungsstörung-Epilepsie-Syndrom | KABAMAS · Kaya-Barakat-Masson-Syndrom |
| es | Trastorno del neurodesarrollo-espasticidad-trastorno del movimiento-síndrome epiléptico | KABAMAS · Síndrome de Kaya-Barakat-Masson |
| it | Malattia del neurosviluppo-spasticità-disturbi del movimento-sindrome epilettica | KABAMAS · Sindrome di Kaya-Barakat-Masson |
| nl | Neurologische ontwikkelingsstoornis - spasticiteit - bewegingsstoornis - epilepsie-syndroom | KABAMAS · Syndroom van Kaya-Barakat-Masson |
| pt | Doença do neurodesenvolvimento-espasticidade-doença do movimento-síndrome epilético | KABAMAS · Síndrome Kaya-Barakat-Masson |
| pl | Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome | = en |
| cs | Syndrom zahrnující neurovývojovou poruchu, spasticitu, pohybovou poruchu a epilepsii | = en |
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Cross-references
qualifier = Orphanet mapping relationE 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 (5):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:496916Rare genetic hyperkinetic movement disorder
rare genetic diseases - ORPHA:494457Rare hyperkinetic movement disorder
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|
| YIF1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30511 | ENSG00000167645 | 619109 | 19q13.2 | Yip1 interacting factor homolog B, membrane trafficking protein | 32006098[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 32006098[PMID]_33103737[PMID]_34373908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32006098[PMID]_33103737[PMID]_34373908[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/684240
- This record as JSON: /data/d/684240.json