Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
historical
Synonyms: Dykes-Marks-Harper syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | Dykes-Marks-Harper syndrome |
| fr | Syndrome d'ichtyose-hépatosplénomégalie-dégénérescence cérébelleuse | Syndrome de Dykes-Marks-Harper |
| de | Ichthyose-Hepatosplenomegalie-zerebelläre Degeneration-Syndrom | Dykes-Markes-Harper-Syndrom |
| es | Síndrome de ictiosis-hepatoesplenomegalia-degeneración cerebelosa | |
| it | Ittiosi - epatosplenomegalia - degenerazione cerebellare | Sindrome di Dykes-Markes-Harper |
| nl | Ichthyosis - hepatosplenomegalie - cerebellaire degeneratie-syndroom | Syndroom van Dykes-Markes-Harper |
| pt | Síndrome de ictiose-hepatoesplenomegalia-degenerescência cerebelosa | Síndrome Dykes-Markes-Harper |
| pl | Rybia łuska - powiększenie wątroby i śledziony - zwyrodnienie móżdżku | Zespół Dykesa, Markesa i Harpera |
| cs | Syndrom zahrnující ichtyózu, hepatosplenomegalii a cerebelární degeneraci | Dykesův-Markesův-Harperův syndrom · Dykes-Markes-Harperův syndrom |
| uk | Синдром іхтіозу-гепатоспленомегалії-мозочкової дегенерації | Синдром Дайкса-Маркса-Харпера |
| zh | 鱼鳞病-肝脾肿大-小脑退化综合征 | Dykes-Marks-Harper综合征 |
| tr | İktiyoz-hepatosplenomegali-serebellar dejenerasyon sendromu | Dykes-Marks-Harper sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242520 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009445 | E | validated | |
| MeSH | C535727 | E | validated | |
| UMLS | C1275088 | E | validated | |
| GARD | 1993 | 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:183518Hereditary ataxia
rare genetic diseases; rare neurological 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 | 444432[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_444432[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
8 annotations · validated 2017-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0000726 | Dementia | |
| HP:0001288 | Gait disturbance | |
| HP:0002240 | Hepatomegaly | |
| HP:0001265 | Hyporeflexia | |
| HP:0008064 | Ichthyosis | |
| HP:0001744 | Splenomegaly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2274
- This record as JSON: /data/d/2274.json