Aplasia cutis congenita
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aplasia cutis congenita | |
| fr | Aplasia cutis congenita | |
| de | Aplasia cutis congenita | |
| es | Aplasia cutis congénita | |
| it | Aplasia cutis congenita | ACCV · Aplasia cutis congenita verticis |
| nl | Aplasia cutis congenita | |
| pt | Aplasia cutis congénita | |
| pl | Wrodzona aplazja skóry | |
| cs | Aplasia cutis congenita | |
| uk | Вроджена аплазія шкіри | |
| zh | 先天性皮肤发育不良 | |
| tr | Aplazi kutis konjenita |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107600 | BTNT | validated | |
| OMIM | 600360 | BTNT | validated | |
| OMIM | 619959 | BTNT | validated | |
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| ICD-11 | LC60 | E | specific | validated |
| MONDO | 0007145 | E | validated | |
| UMLS | C0282160 | E | validated | |
| GARD | 5835 | E | validated | |
| MedDRA | 10002963 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1115OBSOLETE: Recessive aplasia cutis congenita of limbs referred to · inactive
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLL4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2910 | ENSG00000128917 | 605185 | 15q15.1 | delta like canonical Notch ligand 4 | 26299364[PMID] |
| BMS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23505 | ENSG00000165733 | 611448 | 10q11.21 | BMS1 ribosome biogenesis factor | 23785305[PMID] |
| ITGB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6158 | ENSG00000132470 | 147557 | 17q25.1 | integrin subunit beta 4 | 31184804[PMID] |
| PLEC | Disease-causing germline mutation(s) in | Assessed | HGNC:9069 | ENSG00000178209 | 601282 | 8q24.3 | plectin | 31184804[PMID] |
| UBA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30661 | ENSG00000126261 | 613295 | 19q13.11 | ubiquitin like modifier activating enzyme 2 | 32758660[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | 12596124[PMID]_[EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Worldwide | Value and class | Validated | 5910871[PMID]_12596124[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 7.69 / 100 000 | Denmark | Value and class | Validated | 25430571[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.
HPO phenotypes
13 annotations · validated 2023-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001057 | Aplasia cutis congenita | |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex | |
| HP:0007383 | Congenital localized absence of skin | |
| HP:0001362 | Skull defect | |
| HP:0010301 | Spinal dysraphism | |
| Frequent (79-30%) | ||
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0010783 | Erythema | |
| HP:0010628 | Facial palsy | |
| HP:0006101 | Finger syndactyly | |
| HP:0003010 | Prolonged bleeding time | |
| HP:5200061 | Tactile hypersensitivity | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32037608[PMID]_30571024[PMID]_36100287[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1114
- This record as JSON: /data/d/1114.json