ORPHA:675782
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Synonyms: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- 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 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5 |
| fr | Syndrome d'hypotonie progressive-déficience intellectuelle-dysmorphie faciale par déficit FYVE de RBSN | Syndrome d'hypotonie progressive-déficience intellectuelle-dysmorphie faciale par déficit FYVE de Rabenosyn-5 |
| de | Progressive Hypotonie-Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch RBSN-Mutation in der FYVE-Domäne | |
| es | Síndrome de hipotonía progresiva-discapacidad intelectual-dismorfia facial debido a RBSN defectuoso en FYVE | Síndrome de hipotonía progresiva-discapacidad intelectual-dismorfismo facial debido a Rabenosyn-5 defectuoso en FYVE |
| it | Sindrome ipotonia progressiva-disabilità intellettiva-dismorfismi facciali da deficit di FYVE in RBSN | Sindrome ipotonia progressiva-disabilità intellettiva-dismorfismi facciali da deficit di FYVE in rabenosyna-5 |
| nl | Progressieve hypotonie - intellectuele achterstand - faciale dysmorfie-syndroom door FYVE-deficiënt Rabenosyn-5 | Progressieve hypotonie - intellectuele achterstand - faciale dysmorfie-syndroom door FYVE-deficiënt RBSN |
| pt | Síndrome de hipotonia progressiva-perturbação do desenvolvimento intelectual-dismorfia facial por RBSN FYVE-deficiência | Síndrome de hipotonia progressiva-perturbação do desenvolvimento intelectual-dismorfia facial por Rabenosina-5 FYVE-deficiência |
| pl | Zespół postępującej hipotonii, niepełnosprawności intelektualnej i dysmorfii twarzy spowodowanej RBSN z defektem FYVE | = en |
| cs | Syndrom zahrnující progresivní hypotonii, intelektovou nedostatečnost a faciální dysmorfii související s defektní FYVE doménou RBSN | = en |
| uk | Синдром прогресуючої гіпотонії-інтелектуальної недостатності-лицевого дисморфізму, зумовлений FYVE-дефектного RBSN | Синдром прогресуючої гіпотонії-інтелектуальної недостатності-лицьового дисморфізму внаслідок FYVE-дефекту рабенозину-5 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620937 | E | validated | |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0971138 | E | validated | |
| MONDO | 971138 | E | validated | |
| UMLS | C5925097 | 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:309340Disorder of lysosomal-related organelles
rare inborn errors of metabolism; rare genetic diseases - 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBSN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20759 | ENSG00000131381 | 609511 | 3p25.1 | rabenosyn, RAB effector | 35652444[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26192890[PMID]_35652444[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26192890[PMID]_35652444[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/675782
- This record as JSON: /data/d/675782.json