ORPHA:140944
CLOVES syndrome
Synonyms: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLOVES syndrome | Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome |
| fr | Syndrome CLOVES | Syndrome d'excroissance lipomateuse congénitale-malformation vasculaire-naevus épidermique-anomalie rachidienne · Syndrome d'excroissance lipomateuse congénitale-malformation vasculaire-naevus épidermique-anomalie squelettique |
| de | CLOVES-Syndrom | CLOVE-Syndrom · CLOVES-Syndrom · Kongenitaler lipomatöser Überwuchs-vaskuläre Malformation-epidermale Naevi-Skelettanomalien |
| es | Síndrome CLOVE | Síndrome de sobrecrecimiento lipomatoso congénito-malformación vascular-nevos epidérmicos-anomalía espinal · Síndrome de sobrecrecimiento lipomatoso congénito-malformación vascular-nevos epidérmicos-anomalía esquelética |
| it | Sindrome CLOVES | |
| nl | CLOVES-syndroom | Congenitale lipomateuze overgroei - vasculaire malformatie - epidermale naevi - skeletanomalie-syndroom · Congenitale lipomateuze overgroei - vasculaire malformatie - epidermale naevi - spinale anomalie-syndroom |
| pt | Síndrome CLOVES | |
| pl | Zespół CLOVE | Wrodzony przerost tłuszczowy - malformacje naczyniowe - znamię naskórkowe |
| cs | CLOVES syndrom | Syndrom zahrnující vrozené lipomatózní přerůstání, vaskulární malformace, epidermální névus a skeletální anomálii · Syndrom zahrnující vrozené lipomatózní přerůstání, vaskulární malformace, epidermální névus a spinální anomálii |
| uk | Синдром CLOVES | Вроджене ліпоматозне розростання - судинна мальформація - епідермальний невус-скелетна аномалія · Синдром вродженого ліпоматозного розростання-судинної мальформації-епідермального невусу- аномалії розвитку хребта |
| zh | 先天性脂肪瘤样增生，血管畸形和表皮痣综合征 | 先天性脂肪性过度生长-血管畸形-表皮痣-脊髓畸形综合征 |
| tr | CLOVES sendromu | Doğumsal lipomatöz aşırı büyüme-vasküler malformasyon-epidermal nevüs-spinal anomali sendromu · Doğumsal lipomatöz aşırı büyüme-vasküler malformasyon-epidermal nevüs-iskelet anomali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612918 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0013038 | E | validated | |
| MeSH | C567863 | E | validated | |
| UMLS | C2752042 | E | validated | |
| GARD | 10939 | 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 (10):
- ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases - ORPHA:715460Syndromic geographic pattern capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:723261Syndromic venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 22658544[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 31334068[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31334068[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
43 annotations · validated 2024-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025104 | Capillary malformation | |
| HP:0009126 | Increased adipose tissue | |
| Frequent (79-30%) | ||
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0100555 | Asymmetric growth | |
| HP:0001169 | Broad palm | |
| HP:0001782 | Bulbous tips of toes | |
| HP:0010816 | Epidermal nevus | |
| HP:0000324 | Facial asymmetry | |
| HP:0001528 | Hemihypertrophy | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0004099 | Macrodactyly | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0009487 | Ulnar deviation of the hand | |
| HP:0012721 | Venous malformation | |
| Occasional (29-5%) | ||
| HP:0001977 | Abnormal thrombosis | |
| HP:0033794 | Acral overgrowth | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0000965 | Cutis marmorata | |
| HP:0000689 | Dental malocclusion | |
| HP:0001288 | Gait disturbance | |
| HP:0007206 | Hemimegalencephaly | |
| HP:0001249 | Intellectual disability | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002435 | Meningocele | |
| HP:0002475 | Myelomeningocele | |
| HP:0012531 | Pain | |
| HP:0002999 | Patellar dislocation | |
| HP:0000767 | Pectus excavatum | |
| HP:0010442 | Polydactyly | |
| HP:0002126 | Polymicrogyria | |
| HP:0000107 | Renal cyst | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0031287 | Seborrheic keratosis | |
| HP:0001250 | Seizure | |
| HP:0010609 | Skin tags | |
| HP:0002414 | Spina bifida | |
| HP:0025476 | Testicular lipomatosis | |
| Very rare (<4-1%) | ||
| HP:0001385 | Hip dysplasia | |
| HP:0002667 | Nephroblastoma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24161472[PMID]_35444443[PMID]_27426476[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140944
- This record as JSON: /data/d/140944.json