ORPHA:100976
Bathing suit ichthyosis
Synonyms: BSI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bathing suit ichthyosis | BSI |
| fr | Ichtyose en maillot de bain | BSI · Bathing suit ichthyosis |
| de | Bathing-suit-Ichthyose | BSI · Badeanzug-Ichthyose |
| es | Ictiosis del área del traje de baño | = en |
| it | Ittiosi a costume da bagno | |
| nl | Badpak-ichthyosis | BSI · Bathing suit ichthyosis |
| pt | Ictiose em fato de banho | |
| pl | Rybia łuska typu Bathing suit | = en |
| cs | Plavková ichtyóza | = en |
| uk | Іхтіоз купального костюма | = en |
| zh | 泳衣鱼鳞病 | = en |
| tr | Banyo iktiyozu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242300 | NTBT | validated | |
| ICD-10 | Q80.2 | NTBT | attributed | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0015085 | E | validated | |
| UMLS | C4511230 | 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:281097Autosomal recessive congenital ichthyosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11777 | ENSG00000092295 | 190195 | 14q12 | transglutaminase 1 | 16968736[PMID]_20301593[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
18 annotations · validated 2019-06-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025092 | Epidermal acanthosis | |
| HP:0008064 | Ichthyosis | |
| HP:0040189 | Scaling skin | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0007460 | Autoamputation of digits | |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0012472 | Eclabion | |
| HP:0000656 | Ectropion | |
| HP:0001019 | Erythroderma | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0001036 | Parakeratosis | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0000966 | Hypohidrosis | |
| HP:0002828 | Multiple joint contractures | |
| HP:0008404 | Nail dystrophy | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0008070 | Sparse hair | |
| Excluded (0%) | ||
| HP:0025524 | Palmoplantar scaling skin | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 10232404[PMID]_19434086[PMID]_22739337[PMID]_30693114[PMID]_28403434[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100976
- This record as JSON: /data/d/100976.json