ORPHA:559
Marinesco-Sjögren syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marinesco-Sjögren syndrome | |
| fr | Syndrome de Marinesco-Sjögren | |
| de | Marinesco-Sjögren-Syndrom | |
| es | Síndrome de Marinesco-Sjogren | |
| it | Sindrome di Marinesco-Sjögren | |
| nl | Syndroom van Marinesco-Sjögren | |
| pt | Síndrome Marinesco-Sjögren | |
| pl | Zespół Marinesco i Sjögrena | |
| cs | Marinescův-Sjögrenův syndrom | Marinesco-Sjögrenův syndrom |
| uk | Синдром Марінеско-Шогрена | |
| zh | Marinesco-Sj÷gren综合征 | |
| tr | Marinesco-Sjögren sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248800 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0009567 | E | validated | |
| UMLS | C0024814 | E | validated | |
| GARD | 8341 | 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 (8):
- ORPHA:98098Autosomal recessive degenerative and progressive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24624 | ENSG00000120725 | 608005 | 5q31.2 | SIL1 nucleotide exchange factor | 20301371[PMID]_16650075[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 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
45 annotations · validated 2017-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012400 | Abnormal aldolase level | |
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0000135 | Hypogonadism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0003198 | Myopathy | |
| HP:0003510 | Severe short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0001156 | Brachydactyly | |
| HP:0002673 | Coxa valga | |
| HP:0100660 | Dyskinesia | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0001276 | Hypertonia | |
| HP:0010508 | Metatarsus valgus | |
| HP:0010547 | Muscle flaccidity | |
| HP:0003552 | Muscle stiffness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0000639 | Nystagmus | |
| HP:0000768 | Pectus carinatum | |
| HP:0002063 | Rigidity | |
| HP:0002650 | Scoliosis | |
| HP:0004279 | Short palm | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/559
- This record as JSON: /data/d/559.json