ORPHA:675775
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | |
| fr | Syndrome sévère de myélofibrose-pancytopénie-déficience intellectuelle-anomalies neurologiques et ophthalmologiques | |
| de | Schwere kongenitale Myelofibrose-Panzytopenie-Intelligenzminderung-neurologische und ophthalmische Anomalien-Syndrom | |
| es | Síndrome de mielofibrosis congénita grave-pancitopenia-discapacidad intelectual-anomalías neurológicas y oftalmológicas | |
| it | Sindrome mielofibrosi congenita grave-pancitopenia-disabilità intellettiva-anomalie neurologiche e oculari | |
| nl | Ernstige congenitale myelofibrose - pancytopenie - intellectuele achterstand - neurologische en oftalmische afwijkingen-syndroom | |
| pt | Síndrome de mielofibrose grave congénita-pancitopenia-perturbação do desenvolvimento intelectual-anomalias neurológicas e oftalmológicas | |
| pl | Zespół ciężkiego wrodzonego zwłóknienia szpiku, pancytopenii, niepełnosprawności intelektualnej, zaburzeń neurologicznych i okulistycznych | |
| cs | Syndrom zahrnující těžkou vrozenou myelofibrózu, pancytopenii, intelektovou nedostatečnost a neurologické a oční abnormality | |
| uk | Синдром тяжкого вродженого мієлофіброзу-панцитопенії-інтелектуальної недостатності-неврологічних та офтальмологічних порушень |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620939 | E | validated | |
| MONDO | 0971137 | E | validated | |
| MONDO | 971137 | E | validated | |
| UMLS | C5925096 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBSN | Disease-causing germline mutation(s) in | Assessed | HGNC:20759 | ENSG00000131381 | 609511 | 3p25.1 | rabenosyn, RAB effector | 29784638[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 29784638[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29784638[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/675775
- This record as JSON: /data/d/675775.json