ORPHA:281122
Self-improving collodion baby
Synonyms: SHCB · SICI · Self-healing collodion baby · Self-improving congenital ichthyosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-improving collodion baby | SHCB · SICI · Self-healing collodion baby · Self-improving congenital ichthyosis |
| fr | Bébé collodion à guérison spontanée | SHCB |
| de | Selbstheilendes Kollodium-Baby | SHCB |
| es | Bebé colodión autorresolutivo | BCA |
| it | Collodion baby con regressione spontanea | |
| nl | Zelfhelende collodionbaby | SHCB |
| pt | Bébe colódio com regressão espontânea | SHCB |
| pl | Samowyleczalny zespół dziecka kolodionowego | SHCB |
| cs | Postižení kůže typu collodion baby se spontánní úpravou | SHCB |
| uk | Самозагоювальний колодіон немовляти | Самовідновлювальна колодіонова дитина · Вроджений іхтіоз, що самовдосконалюється · SHCB · SICI |
| zh | 自愈性火棉胶样儿 | 自愈性先天性鱼鳞病 |
| tr | Kendiliğinden iyileşen kolodyum bebek | SHCB · SICI · Kendiliğinden iyileşen kollodion bebek · Kendiliğinden iyileşen doğumsal iktiyoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242100 | BTNT | validated | |
| OMIM | 242300 | NTBT | validated | |
| OMIM | 606545 | BTNT | validated | |
| ICD-10 | Q80.2 | NTBT | attributed | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0017267 | E | validated | |
| MeSH | C565473 | E | validated | |
| UMLS | C1855789 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALOX12B | Disease-causing germline mutation(s) in | Assessed | HGNC:430 | ENSG00000179477 | 603741 | 17p13.1 | arachidonate 12-lipoxygenase, 12R type | 19890349[PMID] |
| ALOXE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13743 | ENSG00000179148 | 607206 | 17p13.1 | arachidonate epidermal lipoxygenase 3 | 19890349[PMID] |
| TGM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11777 | ENSG00000092295 | 190195 | 14q12 | transglutaminase 1 | 12542526[PMID]_19890349[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0001376 | Limitation of joint mobility | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281122
- This record as JSON: /data/d/281122.json