ORPHA:352333
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Synonyms: Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome · ELOVL4-related neuro ichthyosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome · ELOVL4-related neuro ichthyosis |
| fr | Syndrome d'ichtyose congénitale-déficience intellectuelle-quadriplégie spastique | Neuro-ichthyose associé à ELOVL4 · Syndrome d'ichtyose congénitale-déficience intellectuelle-tétraplégie spastique |
| de | Kongenitale Ichthyose-Intelligenzminderung-spastische Tetraplegie-Syndrom | ELOVL4-assoziierte Neuro-Ichtyose |
| es | Síndrome de ictiosis congénita-discapacidad intelectual-cuadriplejía espástica | Neuroictiosis asociada al gen ELOVL4 · Síndrome de ictiosis congénita-discapacidad intelectual-tetraplejía espástica |
| it | Sindrome da ittiosi congenita-disabilità intellettiva-quadriplegia spastica | Neuro-ittiosi correlata a ELOVL4 · Sindrome da ittiosi congenita-disabilità intellettiva-tetraplegia spastica · Sindrome da ittiosi congenita-disabilità intellettiva-tetraplegia spastica |
| nl | Congenitale ichthyosis - intellectuele achterstand - spastische quadriplegie-syndroom | Congenitale ichthyosis - intellectuele achterstand - spastische tetraplegie-syndroom · ELOVL4-gerelateerde neuro-ichthyosis |
| pt | Síndrome de ictiose congénita-perturbação do desenvolvimento inteletual-tetraplegia espástica | Neuro-ictiose ELOVL4-relacionada |
| pl | Zespół rybiej łuski wrodzonej, niepełnosprawności intelektualnej i kwadriplegii spastycznej | Zespół rybiej łuski wrodzonej, niepełnosprawności intelektualnej i tetraplegii spastycznej · Zespół wrodzonej rybiej łuski-niepełnosprawności intelektualnej-spastycznego porażenia czterokończynowego |
| cs | Syndrom zahrnující vrozenou ichtyózu, mentální retardaci a spastickou kvadruplegii | Syndrom zahrnující vrozenou ichtyózu, omezení intelektu a spastickou tetraplegii |
| uk | Синдром вродженого іхтіозу-інтелектуальної недостатності-спастичної квадриплегії | Синдром вродженого іхтіозу - інтелектуальної недостатності - спастичної тетраплегії · Нейроіхтіоз, повязаний з ELOVL4 |
| zh | 先天性鱼鳞癣-智力障碍-痉挛性四肢瘫痪综合征 | Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome |
| tr | Doğumsal iktiyoz-zihinsel yetersizlik-spastik kuadripleji sendromu | Doğumsal iktiyoz-zihinsel yetersizlik-spastik tetrapleji sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614457 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | attributed | validated |
| MONDO | 0013760 | E | validated | |
| UMLS | C3280856 | 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:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELOVL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:14415 | ENSG00000118402 | 605512 | 6q14.1 | ELOVL fatty acid elongase 4 | 22100072[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22100072[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
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/352333
- This record as JSON: /data/d/352333.json