Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | |
| fr | Syndrome de sclérose en plaques-ichtyose-déficit en facteur VIII | |
| de | Multiple Sklerose-Ichthyose-Faktor-VIII-Mangel-Syndrom | |
| es | Síndrome de esclerosis múltiple-ictiosis-deficiencia del factor VIII | |
| it | Sclerosi multipla - ittiosi - deficit del fattore VIII | |
| nl | Multipele sclerose - ichthyosis - factor VIII-deficiëntie-syndroom | |
| pt | Síndrome de esclerose múltipla-ictiose-deficiência de fator 8 | |
| pl | Stwardnienie rozsiane - rybia łuska - Niedobór czynnika VIII | |
| cs | Syndrom zahrnující roztroušenou sklerózu, ichtyózu a deficit faktoru VIII | |
| uk | Синдром розсіяного склерозу-іхтіозу - дефіциту фактора VIII | |
| zh | 多发性硬化-鱼鳞病-VIII因子缺乏综合征 | |
| tr | Çoklu skleroz-iktiyoz-faktör VIII eksikliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G37.8 | NTBT | attributed | validated |
| ICD-11 | 8A4Y | NTBT | attributed | validated |
| MONDO | 0017837 | E | validated | |
| UMLS | C4518551 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8336172[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8336172[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001251 | Ataxia | |
| HP:0000651 | Diplopia | |
| HP:0001288 | Gait disturbance | |
| HP:0008064 | Ichthyosis | |
| HP:0000648 | Optic atrophy | |
| HP:0100654 | Retrobulbar optic neuritis | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0004374 | Hemiplegia/hemiparesis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3151
- This record as JSON: /data/d/3151.json