MCID: ANG062
MIFTS: 33

Angioosteohypertrophic Syndrome

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Angioosteohypertrophic Syndrome

MalaCards integrated aliases for Angioosteohypertrophic Syndrome:

Name: Angioosteohypertrophic Syndrome 58
Klippel-Trenaunay-Weber Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
angioosteohypertrophic syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Angioosteohypertrophic Syndrome

MalaCards based summary : Angioosteohypertrophic Syndrome, also known as klippel-trenaunay-weber syndrome, is related to klippel-trenaunay-weber syndrome and hemihyperplasia, isolated. The drugs Epidiolex and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are macrocephaly and finger syndactyly

Related Diseases for Angioosteohypertrophic Syndrome

Diseases related to Angioosteohypertrophic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 13.3
2 hemihyperplasia, isolated 12.1
3 weber syndrome 11.5
4 hemangioma 11.1
5 varicose veins 11.0
6 arteriovenous malformation 10.9
7 angiomatosis 10.8
8 sturge-weber syndrome 10.7
9 lymphangioma 10.7
10 hemimegalencephaly 10.7
11 rare lymphatic malformation 10.7
12 pulmonary embolism 10.7
13 thrombophilia due to thrombin defect 10.6
14 overgrowth syndrome 10.6
15 hemangioma-thrombocytopenia syndrome 10.6
16 pulmonary hypertension 10.5
17 hydrocephalus 10.5
18 angiokeratoma 10.5
19 paraplegia 10.5
20 gigantism 10.5
21 splenomegaly 10.5
22 back pain 10.5
23 lipomatosis, multiple 10.4
24 scoliosis 10.4
25 pleomorphic lipoma 10.4
26 portal hypertension 10.4
27 hydronephrosis 10.4
28 visual epilepsy 10.4
29 nephrotic syndrome 10.4
30 thrombocytopenia 10.4
31 retinal vascular disease 10.4
32 angiodysplasia 10.4
33 astrocytoma 10.4
34 cystic lymphangioma 10.4
35 angiomyolipoma 10.4
36 phacomatosis pigmentovascularis 10.4
37 seizure disorder 10.4
38 hemifacial hyperplasia 10.3
39 kaposi sarcoma 10.3
40 macrodactyly 10.3
41 melorheostosis, isolated 10.3
42 proteus syndrome 10.3
43 strabismus 10.3
44 chromosome 2q35 duplication syndrome 10.3
45 vesicoureteral reflux 1 10.3
46 von hippel-lindau syndrome 10.3
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
48 cryptorchidism, unilateral or bilateral 10.3
49 persistent hyperplastic primary vitreous, autosomal recessive 10.3
50 hydrocephalus, congenital, 1 10.3

Graphical network of the top 20 diseases related to Angioosteohypertrophic Syndrome:



Diseases related to Angioosteohypertrophic Syndrome

Symptoms & Phenotypes for Angioosteohypertrophic Syndrome

Human phenotypes related to Angioosteohypertrophic Syndrome:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
5 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
8 cavernous hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001048
9 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
10 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
11 venous insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005293
12 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
13 hemihypertrophy of upper limb 58 31 hallmark (90%) Very frequent (99-80%) HP:0100554
14 hand oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001180
15 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
16 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
17 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
18 multiple lipomas 58 31 frequent (33%) Frequent (79-30%) HP:0001012
19 hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001161
20 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
21 tricuspid valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001704
22 hyperpigmented nevi 58 31 occasional (7.5%) Occasional (29-5%) HP:0007481
23 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
24 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
25 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
26 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
27 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
28 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
29 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
30 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
31 abnormality of the menstrual cycle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000140
32 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
33 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
34 peripheral arteriovenous fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100784
35 macrodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004099
36 hemihypertrophy of lower limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0100553
37 abnormality of the cardiovascular system 58 Very frequent (99-80%)
38 malformation of the heart and great vessels 58 Occasional (29-5%)
39 melanocytic nevus 58 Very frequent (99-80%)
40 abnormality of the vasculature 58 Occasional (29-5%)
41 hemihypertrophy 58 Frequent (79-30%)
42 abnormality of the lower limb 58 Occasional (29-5%)

Drugs & Therapeutics for Angioosteohypertrophic Syndrome

Drugs for Angioosteohypertrophic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epidiolex Phase 1, Phase 2
2 Anticonvulsants Phase 1, Phase 2
3
Timolol Approved Phase 1 26839-75-8 33624 5478
4
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
5 Pharmaceutical Solutions Phase 1
6 Neurotransmitter Agents Phase 1
7 Anti-Arrhythmia Agents Phase 1
8 Lubricant Eye Drops Phase 1
9 Antihypertensive Agents Phase 1
10 Adrenergic beta-Antagonists Phase 1
11 Adrenergic Antagonists Phase 1
12 Ophthalmic Solutions Phase 1
13 Adrenergic Agents Phase 1
14 GTPase-Activating Proteins
15 Immunoglobulins
16 Antibodies
17 Endothelial Growth Factors
18 Mitogens

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Active, not recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 Phase II, Randomized, Triple Blind, Intra-individually Placebo-controlled Clinical Trial to Assess the Efficacy and Safety of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome. Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
3 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
4 An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome Withdrawn NCT01997255 Phase 2 Everolimus
5 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
6 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
7 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857
8 Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development Completed NCT01345305
9 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
10 The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
11 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
12 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Angioosteohypertrophic Syndrome

Genetic Tests for Angioosteohypertrophic Syndrome

Anatomical Context for Angioosteohypertrophic Syndrome

MalaCards organs/tissues related to Angioosteohypertrophic Syndrome:

40
Skin, Heart, Eye, Bone, Spinal Cord, Kidney, Brain

Publications for Angioosteohypertrophic Syndrome

Articles related to Angioosteohypertrophic Syndrome:

(show top 50) (show all 293)
# Title Authors PMID Year
1
Capillary Malformation-Arteriovenous Malformation Syndrome 6
21348050 2011
2
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases. 61
31852928 2019
3
Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. 61
30905648 2019
4
Vesical Hemangioma in a Patient with Klippel-Trenaunay-Weber Syndrome. 61
30737037 2019
5
Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition. 61
29067825 2019
6
Lymphaticovenular anastomosis for Klippel-Trenaunay-Weber syndrome. 61
31015075 2019
7
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. 61
29572375 2018
8
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 61
29280366 2018
9
Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review. 61
29197023 2018
10
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. 61
30112237 2018
11
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. 61
30361716 2018
12
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. 61
29054771 2018
13
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. 61
28782176 2017
14
Unique Considerations in Spinal Cord Stimulator Placement in Pediatrics: A Case Report. 61
28604466 2017
15
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. 61
28823249 2017
16
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. 61
29244707 2017
17
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. 61
27141435 2016
18
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. 61
26615353 2015
19
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. 61
25008156 2015
20
Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases. 61
26238609 2015
21
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. 61
26030331 2015
22
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. 61
25890301 2015
23
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. 61
25878760 2015
24
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. 61
26000182 2015
25
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. 61
26578498 2015
26
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. 61
26349197 2015
27
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. 61
25065286 2014
28
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. 61
25222156 2014
29
Klippel–Trenaunay–Weber syndrome (KTWS) and spontaneous spinal CSF leak: coincidence or link. 61
24666237 2014
30
[A variant of Klippel-Trenaunay-Weber syndrome]. 61
24637826 2014
31
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. 61
25009745 2014
32
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. 61
23438794 2013
33
Case series of isolated primary persistent sciatic vein. 61
24043675 2013
34
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. 61
23263154 2013
35
[Epidural block for lower limb amputation in a patient with Klippel-Trenaunay-Weber syndrome]. 61
23479928 2013
36
Neurologic and vascular abnormalities in Klippel-Trenaunay-Weber syndrome. 61
23090443 2013
37
Sonographic identification of klippel-trenaunay-weber syndrome. 61
24368952 2013
38
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. 61
22898712 2013
39
Open surgical management of a ruptured intracranial aneurysm in Klippel-Trenaunay-Weber (KTW) syndrome. 61
23314873 2013
40
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. 61
24101274 2013
41
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. 61
23161195 2012
42
Recurrent cerebral infarction in Klippel-Trenaunay-Weber syndrome. 61
22342818 2012
43
Klippel - trenaunay - weber syndrome. 61
24027717 2012
44
Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. 61
26107478 2012
45
Klippel-trenaunay-weber syndrome with hemimegalencephaly; report of a pediatric case. 61
23056878 2012
46
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. 61
22184171 2011
47
[A case of Klippel-Trenaunay-Weber syndrome associated with progressive pulmonary hypertension]. 61
22171493 2011
48
Neurological picture: A case of cerebral and retinal vascular anomaly in a patient with Klippel-Trenaunay-Weber syndrome. 61
21746741 2011
49
Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome. 61
21315629 2011
50
Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis. 61
21232734 2011

Variations for Angioosteohypertrophic Syndrome

Expression for Angioosteohypertrophic Syndrome

Search GEO for disease gene expression data for Angioosteohypertrophic Syndrome.

Pathways for Angioosteohypertrophic Syndrome

GO Terms for Angioosteohypertrophic Syndrome

Sources for Angioosteohypertrophic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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