ORPHA:228277
Familial anetoderma
Synonyms: Hereditary anetoderma · Hereditary macular atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial anetoderma | Hereditary anetoderma · Hereditary macular atrophy |
| fr | Anétodermie familiale | Anétodermie héréditaire · Atrophie maculaire familiale · Atrophie maculaire héréditaire |
| de | Anetodermie, familiäre | Anetodermie, hereditäre · Makulaatrophie, hereditäre |
| es | Anetodermia familiar | Anetodermia hereditaria · Atrofia macular hereditaria |
| it | Anetoderma familiare | Anetoderma ereditario · Atrofia maculare ereditaria |
| nl | Familiale anetodermie | Erfelijke anetodermie · Erfelijke macula-atrofie |
| pt | Anetoderma familiar | |
| pl | Rodzinny zanik skórny plackowaty | Dziedziczny zanik plamki · Dziedziczny zanik skórny plackowaty |
| cs | Familiární anetoderma | Hereditární anetoderma · Hereditární makulární atrofie |
| uk | Сімейна анетодермія | Спадкова анетодермія · Спадкова макулярна атрофія |
| zh | 家族性皮肤松垂 | 遗传性斑状萎缩 |
| tr | ailesel anetoderma | Kalıtsal anetoderma · Kalıtsal maküler atrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L90.8 | NTBT | attributed | validated |
| ICD-11 | EE41.1 | NTBT | index | validated |
| MONDO | 0016445 | E | validated | |
| UMLS | C4518793 | 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:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 families | Worldwide | Family(ies) | Validated | 21719400[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21719400[PMID] |
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 2016-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| Frequent (79-30%) | ||
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0002705 | High, narrow palate | |
| HP:0040079 | Irregular dentition | |
| HP:0002938 | Lumbar hyperlordosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15318943[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228277
- This record as JSON: /data/d/228277.json