ORPHA:281127
Acral self-healing collodion baby
Synonyms: Acral SHCB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acral self-healing collodion baby | Acral SHCB |
| fr | Bébé collodion à guérison spontanée, forme acrale | SHCB acral |
| de | Selbstheilendes Kollodiumbaby, akrales | SHCB, akrales |
| es | Bebé colodión autorresolutivo acral | BCA acral |
| it | Collodion baby acrale con regressione spontanea | |
| nl | Acrale zelfhelende collodionbaby | Acrale SHCB |
| pt | Bébe colódio acral com regressão espontânea | SHCB acral |
| pl | Kończynowy samowyleczalny zespół dziecka kolodionowego | Kończynowy SHCB |
| cs | Postižení kůže aker typu collodion baby se spontánní úpravou | Akrální SHCB |
| uk | Акральний самозагоювальний колодіон немовляти | = en |
| zh | 肢端自愈性火棉胶样儿 | 肢端型SHCB |
| tr | Kendiliğinden iyileşen akral kolodyumlu bebek | Akral SHCB |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242300 | E | validated | |
| ICD-10 | Q80.2 | NTBT | attributed | validated |
| ICD-11 | EC20.02 | NTBT | index | validated |
| MONDO | 0017268 | E | validated | |
| UMLS | C4305324 | 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 | 19500103[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 | 19500103[PMID]_[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
6 annotations · validated 2019-06-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012098 | Edema of the dorsum of feet | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0010783 | Erythema | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0007559 | Localized epidermolytic hyperkeratosis | |
| HP:0025524 | Palmoplantar scaling skin | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 19500103[PMID]_22739337[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281127
- This record as JSON: /data/d/281127.json