ORPHA:714737
Diffuse capillary malformation with overgrowth
Synonyms: DCMO
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse capillary malformation with overgrowth | DCMO |
| fr | Malformation capillaire diffuse avec prolifération | = en |
| de | Diffuse kapilläre Fehlbildung mit Überwuchs | DCMO · Diffuse kapilläre Malformationen mit Überwuchs |
| es | Malformación capilar difusa con sobrecrecimiento | = en |
| it | Malformazione capillare diffusa con iperaccrescimento | = en |
| nl | Diffuse capillaire malformatie met overgroei | = en |
| pt | Diffuse capillary malformation with overgrowth | |
| pl | Rozlane malformacje włośniczkowe z przerostem | = en |
| cs | Diffuse capillary malformation with overgrowth | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728584PIK3CA-related overgrowth spectrum disorder with vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:715453Reticulated capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:723264Syndromic port-wine capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNA11 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 28120216[PMID] |
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 31909475[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 73 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714737
- This record as JSON: /data/d/714737.json