ORPHA:461
Recessive X-linked ichthyosis
Synonyms: RXLI · Steroid sulfatase deficiency · X-linked ichthyosis · XLI
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recessive X-linked ichthyosis | RXLI · Steroid sulfatase deficiency · X-linked ichthyosis · XLI |
| fr | Ichtyose récessive liée à l'X | Déficit en stéroïde sulfatase · Ichtyose liée à l'X · RXLI · XLI |
| de | Ichthyose, X-chromosomal-rezessive | XLI · RXLI · Steroidsulfatase-Mangel |
| es | Ictiosis recesiva ligada al cromosoma X | Deficiencia de esteroide sulfatasa · Ictiosis ligada al cromosoma X · RXLI · XLI |
| it | Ittiosi recessiva legata all'X | Deficit di solfatasi steroidea · Ittiosi legata all'X · RXLI · XLI |
| nl | Recessieve X-gebonden ichthyosis | RXLI · Steroïdesulfatasedeficiëntie · X-gebonden ichthyosis · XLI |
| pt | Ictiose ligada ao X recessiva | Deficiência de sulfatase de esteroides |
| pl | Recesywna rybia łuska sprzężona z chromosomem X | Niedobór sulfatazy steroidowej · RXLI · Rybia łuska sprzężona z płcią · XLI |
| cs | X-vázaná recesivní ichtyóza | RXLI · Deficit steroid-sulfatázy · X-vázaná ichtyóza · XLI |
| uk | Рецесивний іхтіоз, зчеплений з Х-хромосомою | RXLI · Дефіцит стероїдної сульфатази · XLI · Х-зчеплений іхтіоз |
| zh | X连锁隐性遗传鱼鳞病 | 类固醇硫酸酯酶缺乏症 |
| tr | X'e bağlı resesif iktiyoz | XLI · RXLI · X'e bağlı iktiyoz · Steroid sülfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308100 | E | validated | |
| ICD-10 | Q80.1 | NTBT | specific | validated |
| ICD-11 | EC20.01 | E | specific | validated |
| MONDO | 0010622 | E | validated | |
| MeSH | D016114 | E | validated | |
| UMLS | C2720163 | E | validated | |
| GARD | 7904 | 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 (2):
- ORPHA:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STS | Disease-causing germline mutation(s) in | Assessed | HGNC:11425 | ENSG00000101846 | 300747 | Xp22.31 | steroid sulfatase | 10583107[PMID]_10692123[PMID] |
| FLG | Modifying germline mutation in | Assessed | HGNC:3748 | ENSG00000143631 | 135940 | 1q21.3 | filaggrin | 29054605[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 15 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 16.6 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 9.9 / 100 000 | Italy | Value and class | Not yet validated | 12920363[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
12 annotations · validated 2023-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000958 | Dry skin | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0008064 | Ichthyosis | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007759 | Opacification of the corneal stroma | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000717 | Autism | |
| HP:0000028 | Cryptorchidism | |
| HP:0007549 | Desquamation of skin soon after birth | |
| HP:0001270 | Motor delay | |
| Very rare (<4-1%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 37363400[PMID]_29672931[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/461
- This record as JSON: /data/d/461.json