Angio-osteohypertrophic syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Klippel-Trénaunay-Weber syndrome |
| Number of Symptoms | 54 |
| OrphanetNr: | 2346 |
| OMIM Id: |
149000
608355 |
| ICD-10: |
Q87.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.8 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Arteriovenous malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Congenital vascular bone syndrome -Rare bone disease -Rare genetic disease Genetic skin vascular disease -Rare genetic disease Genetic vascular anomaly -Rare genetic disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Overgrowth syndrome -Rare developmental defect during embryogenesis -Rare genetic disease Skin vascular disease -Rare skin disease |
Symptom Information:
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(HPO:0000790) | Hematuria | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0000858) | Menstrual irregularities | Occasional [Orphanet] | 42 / 7739 | |||
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(HPO:0100729) | Large face | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004099) | Macrodactyly | 5 / 7739 | ||||
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(HPO:0100559) | Lower limb asymmetry | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0100746) | Macrodactyly of finger | Occasional [Orphanet] | 5 / 7739 | |||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0002814) | Abnormality of the lower limb | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0001528) | Hemihypertrophy | 13 / 7739 | ||||
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(HPO:0002653) | Bone pain | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0002817) | Abnormality of the upper limb | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001180) | Hand oligodactyly | 17 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0002239) | Gastrointestinal hemorrhage | Frequent [Orphanet] | 97 / 7739 | |||
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(HPO:0000098) | Tall stature | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0100555) | Asymmetric growth | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0011276) | Vascular skin abnormality | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0100585) | Telangiectasia of the skin | Very frequent [Orphanet] | 66 / 7739 | |||
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(HPO:0100761) | Visceral angiomatosis | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000995) | Melanocytic nevus | Occasional [Orphanet] | 63 / 7739 | |||
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(HPO:0005606) | Hyperpigmented nevi and streak | 2 / 7739 | ||||
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(HPO:0001048) | Cavernous hemangioma | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001028) | Hemangioma | 23 / 7739 | ||||
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(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000965) | Cutis marmorata | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001702) | Abnormality of the tricuspid valve | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0100026) | Arteriovenous malformation | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0100784) | Peripheral arteriovenous fistula | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0005293) | Venous insufficiency | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0004947) | Arteriovenous fistula | 3 / 7739 | ||||
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(HPO:0001626) | Abnormality of the cardiovascular system | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0003010) | Prolonged bleeding time | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001871) | Abnormality of blood and blood-forming tissues | 37 / 7739 | ||||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001004) | Lymphedema | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0001012) | Multiple lipomas | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0100764) | Lymphangioma | 11 / 7739 | ||||
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(HPO:0003549) | Abnormality of connective tissue | Occasional [Orphanet] | 22 / 7739 | |||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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