ORPHA:281090
Syndromic recessive X-linked ichthyosis
Synonyms: Recessive X-linked ichthyosis with extracutaneous manifestations · Syndromic RXLI
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic recessive X-linked ichthyosis | Recessive X-linked ichthyosis with extracutaneous manifestations · Syndromic RXLI |
| fr | Ichtyose liée à l'X syndromique | Ichtyose liée à l'X avec manifestations extra-cutanées · Ichtyose récessive liée à l'X syndromique · RXLI syndromique |
| de | Ichthyose, syndromale, X-chromosomal-rezessive | Ichthyose, X-chromosomal-rezessive, syndromale Form · RXLI, syndromal |
| es | Ictiosis sindrómica recesiva ligada al cromosoma X | |
| it | Ittiosi sindromica recessiva legata all'X | Ittiosi sindromica recessiva legata all'X · RXLI sindromica |
| nl | Syndromale recessieve X-gebonden ichthyosis | Recessieve X-gebonden ichthyosis met extracutane manifestaties · Syndromale RXLI |
| pt | Ictiose ligada ao X sindromática recessiva | Ictiose sindrómica, recessiva ligada ao X · RXLI sindrómica |
| pl | Syndromiczna rybia łuska sprzężona z chromosomem X | Syndromiczna recesywna rybia łuska sprzężona z chromosomem X · Syndromiczna RXLI |
| cs | Syndromická X-vázaná ichtyóza | Syndromická RXLI · Syndromická recesivní X-vázaná ichtyóza |
| uk | Синдромний рецесивний іхтіоз, зчеплений з Х-хромосомою | Рецесивний Х-зчеплений іхтіоз з позашкірними проявами · Синдром RXLI |
| zh | 综合征性X连锁隐性遗传鱼鳞病 | 伴有皮外表现的隐性X连锁鱼鳞病 |
| tr | Sendromik resesif X'e bağlı iktiyoz | Sendrom RXLI · Ekstrakutanöz belirtiler ile seyreden X'e bağlı çekinik iktiyoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308100 | NTBT | validated | |
| ICD-10 | Q80.1 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0017264 | E | validated | |
| UMLS | C4274085 | 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 (1):
- ORPHA:281210X-linked ichthyosis syndrome
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STS | Role in the phenotype of | Assessed | HGNC:11425 | ENSG00000101846 | 300747 | Xp22.31 | steroid sulfatase | 3165728[PMID]_10692123[PMID]_15888481[PMID]_18076704[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0008064 | Ichthyosis | |
| Frequent (79-30%) | ||
| HP:0002381 | Aphasia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007957 | Corneal opacity | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0010866 | Abdominal wall defect | |
| HP:0002577 | Abnormal stomach morphology | |
| HP:0004298 | Abnormality of the abdominal wall | |
| HP:0002488 | Acute leukemia | |
| HP:0000717 | Autism | |
| HP:0000028 | Cryptorchidism | |
| HP:0000135 | Hypogonadism | |
| HP:0001339 | Lissencephaly | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0100617 | Testicular seminoma | |
| HP:0000122 | Unilateral renal agenesis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281090
- This record as JSON: /data/d/281090.json