Parkes Weber syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parkes Weber syndrome | |
| fr | Syndrome de Parkes Weber | |
| de | Parkes-Weber-Syndrom | |
| es | Síndrome de Parkes Weber | |
| it | Sindrome di Parkes Weber | |
| nl | Syndroom van Parkes Weber | |
| pt | Síndrome Parkes Weber | |
| pl | Zespół Parkesa i Webera | |
| cs | Parkes Weberův syndrom | |
| uk | Синдром Паркеса Вебера | |
| zh | Parkes Weber综合征 | |
| tr | Parkes Weber sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608354 | NTBT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.60 | NTBT | index | validated |
| MONDO | 0020783 | E | validated | |
| UMLS | C5574870 | E | validated | |
| GARD | 9787 | E | validated | |
| MedDRA | 10075554 | 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 (8):
- ORPHA:235832Congenital vascular bone syndrome
rare genetic diseases; rare bone diseases - ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:719955Multifocal fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:723427Syndromic fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:715466Syndromic low resistance capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RASA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9871 | ENSG00000145715 | 139150 | 5q14.3 | RAS p21 protein activator 1 | 18446851[PMID]_21348050[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
44 annotations · validated 2020-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0100026 | Arteriovenous malformation | |
| Frequent (79-30%) | ||
| HP:0004947 | Arteriovenous fistula | |
| HP:0032555 | Bounding pulse | |
| HP:0025104 | Capillary malformation | |
| HP:0002617 | Dilatation | |
| HP:0025474 | Erythematous plaque | |
| HP:0100553 | Hemihypertrophy of lower limb | |
| HP:0001722 | High-output congestive heart failure | |
| HP:0008968 | Muscle hypertrophy of the lower extremities | |
| HP:0100784 | Peripheral arteriovenous fistula | |
| HP:0007394 | Prominent superficial blood vessels | |
| HP:0002619 | Varicose veins | |
| HP:0004948 | Vascular tortuosity | |
| HP:0012721 | Venous malformation | |
| Occasional (29-5%) | ||
| HP:0031138 | Abnormal B-type natriuretic peptide level | |
| HP:0001892 | Abnormal bleeding | |
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0006489 | Abnormality of the femoral metaphysis | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0003418 | Back pain | |
| HP:0002408 | Cerebral arteriovenous malformation | |
| HP:0100749 | Chest pain | |
| HP:0031939 | Conus terminalis arteriovenous malformation | |
| HP:0005521 | Disseminated intravascular coagulation | |
| HP:0002936 | Distal sensory impairment | |
| HP:0100775 | Dural ectasia | |
| HP:0002315 | Headache | |
| HP:0010484 | Hypertrophy of the upper limb | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0012514 | Lower limb pain | |
| HP:0002196 | Myelopathy | |
| HP:0030833 | Neck pain | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0012531 | Pain | |
| HP:0040189 | Scaling skin | |
| HP:0200042 | Skin ulcer | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002390 | Spinal arteriovenous malformation | |
| HP:0002138 | Subarachnoid hemorrhage | |
| HP:0000016 | Urinary retention | |
| Very rare (<4-1%) | ||
| HP:0007461 | Hemangiomatosis | |
| HP:0010550 | Paraplegia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28645597[PMID]_27511883[PMID]_31086946[PMID]_30852501[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90307
- This record as JSON: /data/d/90307.json