ORPHA:168984
CLAPO syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLAPO syndrome | |
| fr | Syndrome CLAPO | |
| de | CLAPO-Syndrom | |
| es | Síndrome CLAPO | |
| it | Sindrome CLAPO | |
| nl | CLAPO-syndroom | |
| pt | Síndrome CLAPO | |
| pl | Zespół CLAPO | |
| cs | CLAPO syndrom | |
| uk | Синдром CLAPO | |
| zh | CLAPO 综合征 | |
| tr | CLAPO sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613089 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0013125 | E | validated | |
| MeSH | C567763 | E | validated | |
| UMLS | C2751313 | E | 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 (3):
- ORPHA:530313PIK3CA-related overgrowth spectrum disorder
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:715460Syndromic geographic pattern capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 29446767[PMID]_29766551[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 18798326[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18798326[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005306 | Capillary hemangioma | Diagnostic criterion |
| HP:0031487 | Capillary malformation of the lip | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0001528 | Hemihypertrophy | |
| HP:0100764 | Lymphangioma | |
| HP:0001052 | Nevus flammeus | |
| HP:0001548 | Overgrowth | |
| Frequent (79-30%) | ||
| HP:0100555 | Asymmetric growth | |
| HP:0000324 | Facial asymmetry | |
| HP:0001508 | Failure to thrive | |
| HP:0100553 | Hemihypertrophy of lower limb | |
| HP:0100554 | Hemihypertrophy of upper limb | |
| HP:0001004 | Lymphedema | |
| HP:0004099 | Macrodactyly | |
| HP:0002619 | Varicose veins | |
| HP:0012721 | Venous malformation | |
| Occasional (29-5%) | ||
| HP:0000774 | Narrow chest | |
| HP:0000767 | Pectus excavatum | |
| HP:0000098 | Tall stature | |
| Very rare (<4-1%) | ||
| HP:0003005 | Ganglioneuroma | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29446767[PMID]_18798326[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168984
- This record as JSON: /data/d/168984.json