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MCID: ANG062
MIFTS: 45

Angioosteohypertrophic Syndrome

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Angioosteohypertrophic Syndrome

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MalaCards integrated aliases for Angioosteohypertrophic Syndrome:

Name: Angioosteohypertrophic Syndrome 58 28 5
Klippel-Trenaunay-Weber Syndrome 58
Haemangiectatic Hypertrophy 33

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Adolescent,Childhood,Infancy 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Angioosteohypertrophic Syndrome

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Orphanet: 58 A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.

MalaCards based summary: Angioosteohypertrophic Syndrome, also known as klippel-trenaunay-weber syndrome, is related to weber syndrome and klippel-trenaunay-weber syndrome. An important gene associated with Angioosteohypertrophic Syndrome is CCNH (Cyclin H), and among its related pathways/superpathways are Development EGFR signaling pathway and Development VEGF signaling via VEGFR2 - generic cascades. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and scoliosis
Sources

Related Diseases for Angioosteohypertrophic Syndrome

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 31.9 RASA1 GNAQ
2 klippel-trenaunay-weber syndrome 31.8 RASA1 PIK3CA GNAQ CCNH
3 capillary malformations, congenital 30.6 PIK3CA GNAQ
4 capillary malformation-arteriovenous malformation 1 30.2 RASA1 CCNH
5 sturge-weber syndrome 30.1 RASA1 PIK3CA GNAQ
6 proteus syndrome 29.5 RASA1 PIK3CA GNAQ
7 hemihyperplasia, isolated 11.5
8 hemimegalencephaly 11.1
9 hemangioma 11.0
10 varicose veins 10.9
11 arteriovenous malformation 10.8
12 lymphangioma 10.7
13 rare lymphatic malformation 10.6
14 hyperostosis 10.6
15 spinal cord disease 10.6
16 thrombophilia due to thrombin defect 10.5
17 pulmonary embolism 10.5
18 hemangioma-thrombocytopenia syndrome 10.5
19 overgrowth syndrome 10.5
20 cerebral cavernous malformations 10.4
21 hemifacial hyperplasia 10.4
22 pulmonary hypertension 10.4
23 disseminated intravascular coagulation 10.4
24 acromegaly 10.4
25 cystic lymphangioma 10.4
26 angiokeratoma 10.4
27 paraplegia 10.4
28 splenomegaly 10.4
29 glioma susceptibility 1 10.3
30 lipomatosis, multiple 10.3
31 macrodactyly 10.3
32 cryptorchidism, unilateral or bilateral 10.3
33 glaucoma 3, primary congenital, a 10.3
34 hydrops fetalis, nonimmune 10.3
35 stroke, ischemic 10.3
36 meningioma, familial 10.3
37 intraocular pressure quantitative trait locus 10.3
38 bacteremia 2 10.3
39 scoliosis 10.3
40 portal hypertension 10.3
41 hydrocephalus 10.3
42 hydronephrosis 10.3
43 nephrotic syndrome 10.3
44 vascular disease 10.3
45 retinal vascular disease 10.3
46 angiodysplasia 10.3
47 angiomyolipoma 10.3
48 cavernous hemangioma 10.3
49 aortic valve insufficiency 10.3
50 chronic thromboembolic pulmonary hypertension 10.3

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



Diseases related to Angioosteohypertrophic Syndrome
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Symptoms & Phenotypes for Angioosteohypertrophic Syndrome

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Human phenotypes related to Angioosteohypertrophic Syndrome:

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

Drugs & Therapeutics for Angioosteohypertrophic Syndrome

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
4
Glycolic acid Approved, Investigational Phase 3 79-14-1 757
5
Mitomycin Approved Phase 3 50-07-7 5746
6 Anti-Bacterial Agents Phase 2, Phase 3
7 Anti-Infective Agents Phase 2, Phase 3
8 Antifungal Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10
Cannabidiol Approved, Investigational Phase 2 13956-29-1 521372 644019
11 Anticonvulsants Phase 2
12
Timolol Approved Phase 1 26839-75-8 5478 33624
13
Maleic acid Experimental, Investigational Phase 1 110-16-7, 110-17-8 444266 444972
14 Pharmaceutical Solutions Phase 1
15 Ophthalmic Solutions Phase 1
16 Neurotransmitter Agents Phase 1
17 Adrenergic beta-Antagonists Phase 1
18 Adrenergic Antagonists Phase 1
19 Adrenergic Agents Phase 1
20 Anti-Arrhythmia Agents Phase 1
21 Antihypertensive Agents Phase 1
22 Lubricant Eye Drops Phase 1
23 GTPase-Activating Proteins
24 Immunoglobulins
25 Antibodies
26 Endothelial Growth Factors
27 Mitogens

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Completed NCT03047980 Phase 2, Phase 3 Sirolimus
2 Ahmed Valve Implantation Coated With Poly Lactic -Co-glycolic Acid (PLGA) Saturated With Mitomycin-C in the Management of Adult Onset Glaucoma in Sturge Weber Syndrome Recruiting NCT04735601 Phase 3
3 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
4 Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome: A Phase II Trial Completed NCT04447846 Phase 2 Cannabidiol
5 Masked, Randomized, Single-site, Crossover Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101 Dosed for 14 Days in Adult Subjects With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) Completed NCT04947124 Phase 2 QLS-101ophthalmic solution 1%;QLS-101ophthalmic solution 2%
6 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Completed NCT02332655 Phase 1, Phase 2 Cannabidiol
7 Pilot, Open-label Study of Safety and Tolerability of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP) Recruiting NCT05495269 Phase 2 QLS-101 ophthalmic solution, 2.0 %
8 An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome Withdrawn NCT01997255 Phase 2 Everolimus
9 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
10 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
11 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
12 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
13 Validation of Core Biopsy of Vascular Anomalies for Clinical Pathology and Genomics Completed NCT04836884
14 Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development Completed NCT01345305
15 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
16 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
17 Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome Recruiting NCT04717427
18 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
19 Longitudinal Neuroimaging in Sturge-Weber Syndrome Recruiting NCT04517565
20 The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Active, not recruiting NCT01425944
21 Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Not yet recruiting NCT05563831

Search NIH Clinical Center for Angioosteohypertrophic Syndrome

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Genetic Tests for Angioosteohypertrophic Syndrome

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Genetic tests related to Angioosteohypertrophic Syndrome:

# Genetic test Affiliating Genes
1 Angioosteohypertrophic Syndrome 28
Sources

Anatomical Context for Angioosteohypertrophic Syndrome

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Organs/tissues related to Angioosteohypertrophic Syndrome:

MalaCards : Bone, Skin, Eye, Heart, Endothelial, Spinal Cord, Brain
Sources

Publications for Angioosteohypertrophic Syndrome

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Articles related to Angioosteohypertrophic Syndrome:

(show top 50) (show all 314)
# Title Authors PMID Year
1
Gonioscopy-assisted transluminal trabeculotomy for congenital glaucoma secondary to Klippel-Trenaunay-Weber Syndrome: A case report. 62
36312790 2022
2
Concomitant Klippel-Trenaunay-Weber syndrome with pelvic arteriovenous malformation and May-Thurner syndrome: A rare presentation. 62
36272519 2022
3
Balloon pulmonary angioplasty for chronic thromboembolic pulmonary hypertension concomitant with Klippel-Trenaunay-Weber syndrome. 62
36438451 2022
4
Klippel-Trenaunay-Weber syndrome with ischemic stroke: A case report. 62
36312497 2022
5
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. 62
36190850 2022
6
Anaesthetic management of an abdominal aortic aneurysmorrhaphy in Klippel-Trenaunay-Weber syndrome: a case report. 62
35820847 2022
7
Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments. 62
35829859 2022
8
Surgical shunt ligation for a congenital extrahepatic portosystemic shunt with pulmonary hypertension: A case report. 62
35477213 2022
9
Long-term durability of a Perceval aortic valve implanted inside a calcified homograft root in a patient with Klippel-Trenaunay-Weber syndrome. 62
34662465 2022
10
Tongue Reduction for Macroglossia. 62
33235175 2021
11
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations. 62
34112235 2021
12
Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. 62
33210306 2021
13
Truncal Varicosities and Bilateral Port-wine Stain with Spinal Deformities Associated with Klippel-Trenaunay-Weber Syndrome. 62
33487708 2020
14
Klippel-Trenaunay-Weber Syndrome Associated with Multiple Cerebral Arteriovenous Malformations: Usefulness of Gamma Knife Stereotactic Radiosurgery in This Syndrome. 62
32534263 2020
15
[Klippel-Trenaunay-Weber syndrome with vesical and uterine involvement treated by endoscopic and endovascular routes]. 62
32044745 2020
16
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases. 62
31852928 2019
17
Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. 62
30905648 2019
18
Vesical Hemangioma in a Patient with Klippel-Trenaunay-Weber Syndrome. 62
30737037 2019
19
Phacomatosis Pigmentovascularis: Simple Presentation of a Not So Simple Dermatological Condition. 62
29067825 2019
20
Lymphaticovenular anastomosis for Klippel-Trenaunay-Weber syndrome. 62
31015075 2019
21
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. 62
29572375 2018
22
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 62
29280366 2018
23
Cerebral and spinal cavernomas associated with Klippel-Trenaunay syndrome: case report and literature review. 62
29197023 2018
24
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. 62
29054771 2018
25
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. 62
30361716 2018
26
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. 62
30112237 2018
27
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. 62
28782176 2017
28
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. 62
28823249 2017
29
Unique Considerations in Spinal Cord Stimulator Placement in Pediatrics: A Case Report. 62
28604466 2017
30
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. 62
29244707 2017
31
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. 62
27141435 2016
32
Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. 62
26615353 2015
33
Combined Transarterial and Transvenous Approach for Curative Obliteration of Klippel-Trenaunay-Weber Syndrome-Associated Spinal Perimedullary Arteriovenous Fistulas. 62
25008156 2015
34
Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases. 62
26238609 2015
35
An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report. 62
26030331 2015
36
Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report. 62
25890301 2015
37
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. 62
26578498 2015
38
A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome. 62
26000182 2015
39
A rare paediatric case of Klippel-Trenaunay-Weber syndrome. 62
25878760 2015
40
THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME. 62
26349197 2015
41
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. 62
25222156 2014
42
Photoclinic. Co-existence of Abernethy malformation and Klippel-Trenaunay-Weber syndrome. 62
25065286 2014
43
Klippel–Trenaunay–Weber syndrome (KTWS) and spontaneous spinal CSF leak: coincidence or link. 62
24666237 2014
44
[A variant of Klippel-Trenaunay-Weber syndrome]. 62
24637826 2014
45
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. 62
25009745 2014
46
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome. 62
23438794 2013
47
Case series of isolated primary persistent sciatic vein. 62
24043675 2013
48
[Epidural block for lower limb amputation in a patient with Klippel-Trenaunay-Weber syndrome]. 62
23479928 2013
49
Images in vascular medicine. The mystery of a crimson leg: a case of Klippel-Trenaunay-Weber syndrome. 62
23263154 2013
50
Coronary anomalies in Klippel-Trenaunay-Weber syndrome: multidetector computed tomography and cardiac magnetic resonance study of a rare association. 62
22898712 2013
Sources

Variations for Angioosteohypertrophic Syndrome

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ClinVar genetic disease variations for Angioosteohypertrophic Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) SNV Pathogenic
 1098323 GRCh37: 3:178948044-178948044
GRCh38: 3:179230256-179230256
2 PIK3CA NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) SNV Pathogenic
 419222 rs1064793732 GRCh37: 3:178922324-178922324
GRCh38: 3:179204536-179204536
3 PIK3CA NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) SNV Pathogenic
 156446 rs587777790 GRCh37: 3:178917478-178917478
GRCh38: 3:179199690-179199690
4 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic
 50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577
5 RASA1, CCNH NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) DUP Pathogenic
 1172579 GRCh37: 5:86670700-86670701
GRCh38: 5:87374883-87374884
6 RASA1, CCNH NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) SNV Pathogenic
 1172580 GRCh37: 5:86627168-86627168
GRCh38: 5:87331351-87331351
7 RASA1, CCNH NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) SNV Pathogenic
 1172581 GRCh37: 5:86628399-86628399
GRCh38: 5:87332582-87332582
8 PIK3CA NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) SNV Pathogenic
 39703 rs587776932 GRCh37: 3:178947865-178947865
GRCh38: 3:179230077-179230077
Sources

Expression for Angioosteohypertrophic Syndrome

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Search GEO for disease gene expression data for Angioosteohypertrophic Syndrome.
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Pathways for Angioosteohypertrophic Syndrome

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Pathways related to Angioosteohypertrophic Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Development EGFR signaling pathway 22
Show member pathways
 12.12 RASA1 PIK3CA
2
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.03 RASA1 PIK3CA
3
Development FGFR signaling pathway 22
Show member pathways
 12.02 RASA1 PIK3CA
4
Immune response Fc epsilon RI pathway 22
Show member pathways
 11.96 RASA1 PIK3CA
5
Development A3 receptor signaling 22
Show member pathways
 11.95 PIK3CA GNAQ
6
Signaling by VEGF 66
Show member pathways
 11.93 RASA1 PIK3CA
7
PDGFR-beta signaling pathway 61
Show member pathways
 11.89 RASA1 PIK3CA
8
Development Endothelin-1/EDNRA transactivation of EGFR 22
Show member pathways
 11.87 PIK3CA GNAQ
9
Ras signaling 74
11.86 RASA1 PIK3CA
10
GDNF-Family Ligands and Receptor Interactions 64
Show member pathways
 11.82 RASA1 PIK3CA
11
Development A2B receptor- action via G-protein alpha s 22
Show member pathways
 11.67 PIK3CA GNAQ
12
IL2 signaling events mediated by STAT5 61
Show member pathways
 11.65 RASA1 PIK3CA
13
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.62 RASA1 PIK3CA
14
Development EGFR signaling via small GTPases 22
Show member pathways
 11.59 PIK3CA RASA1
15
Gastrin signaling pathway 74
11.57 GNAQ PIK3CA
16
Signaling by PDGF 66
Show member pathways
 11.45 RASA1 PIK3CA
17
RET signaling 66
Show member pathways
 11.38 RASA1 PIK3CA
18
BCR signaling pathway 61
11.29 RASA1 PIK3CA
19
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.25 RASA1 PIK3CA
20
Serotonin HTR1 group and FOS pathway 74
Show member pathways
 11.24 PIK3CA GNAQ
21
Cytoskeleton remodeling Role of PDGFs in cell migration 22
Show member pathways
 11.22 RASA1 PIK3CA
22
Thyroid stimulating hormone (TSH) signaling pathway 74
11.17 PIK3CA GNAQ
23
Signaling events mediated by focal adhesion kinase 61
11.1 RASA1 PIK3CA
24
Neurotrophic factor-mediated Trk receptor signaling 61
Show member pathways
 11.05 RASA1 PIK3CA
25
Microtubule cytoskeleton regulation 74
10.92 PIK3CA GNAQ
26
Insulin Pathway 61
10.8 RASA1 PIK3CA
27
G-protein signaling_H-RAS regulation pathway 22
10.52 RASA1 PIK3CA
28
VEGFR1 specific signals 61
10.02 RASA1 PIK3CA
Sources

GO Terms for Angioosteohypertrophic Syndrome

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Sources

Sources for Angioosteohypertrophic Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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