FAVA
MCID: FBR090
MIFTS: 17

Fibro-Adipose Vascular Anomaly (FAVA)

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Fibro-Adipose Vascular Anomaly

MalaCards integrated aliases for Fibro-Adipose Vascular Anomaly:

Name: Fibro-Adipose Vascular Anomaly 52
Fibro Adipose Vascular Anomaly 52
Fava 52

Classifications:



Summaries for Fibro-Adipose Vascular Anomaly

NIH Rare Diseases : 52 A fibro-adipose vascular anomaly (FAVA) is a rare mass that develops within a muscle. It is made up of abnormal blood vessels and tough, fibrous, fatty tissue . It most often involves a single limb, which may appear slightly enlarged. Common signs and symptoms include pain, loss of mobility, and visible veins. Diagnosis is often delayed till late childhood, adolescence, or adulthood. In some cases, the anomaly is due to changes in the PIK3CA gene . In other cases the cause is not known. FAVA is not inherited . Treatment may involve surgery or freezing (cryoablation), and physical therapy . If surgery or cryoablation cannot be done, the medication, Sirolimus, may be another treatment option.

MalaCards based summary : Fibro-Adipose Vascular Anomaly, also known as fibro adipose vascular anomaly, is related to glucosephosphate dehydrogenase deficiency and anemia, nonspherocytic hemolytic, due to g6pd deficiency. The drugs Eszopiclone and Iloperidone have been mentioned in the context of this disorder. Affiliated tissues include brain.

Wikipedia : 74 Fibro-Adipose Vascular Anomaly distinct congenital disorder characterized by muscular fibrofatty... more...

Related Diseases for Fibro-Adipose Vascular Anomaly

Diseases related to Fibro-Adipose Vascular Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 11.8
2 anemia, nonspherocytic hemolytic, due to g6pd deficiency 11.6
3 hemolytic anemia 10.5
4 deficiency anemia 10.2
5 methemoglobinemia 10.2
6 overgrowth syndrome 10.1
7 hypercholesterolemia, familial, 1 10.1
8 parkinson disease, late-onset 10.1
9 hydrops fetalis, nonimmune 10.1
10 cyanosis, transient neonatal 10.1
11 pertussis 10.1
12 plasmodium falciparum malaria 10.1
13 cholera 10.1
14 acute kidney failure 10.1
15 hemoglobinuria 10.1
16 hypoxia 10.1

Graphical network of the top 20 diseases related to Fibro-Adipose Vascular Anomaly:



Diseases related to Fibro-Adipose Vascular Anomaly

Symptoms & Phenotypes for Fibro-Adipose Vascular Anomaly

Drugs & Therapeutics for Fibro-Adipose Vascular Anomaly

Drugs for Fibro-Adipose Vascular Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
2
Iloperidone Approved Phase 4 133454-47-4 71360
3
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
4
Fluvoxamine Approved, Investigational Phase 4 54739-18-3 3404 5324346
5
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
6
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
7
Sertraline Approved Phase 4 79617-96-2 68617
8
Citalopram Approved Phase 4 59729-33-8 2771
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
11 Hypnotics and Sedatives Phase 4
12 Serotonin Receptor Agonists Phase 4
13 Venlafaxine Hydrochloride Phase 4
14 Anticonvulsants Phase 4
15 Sodium Channel Blockers Phase 4
16 Diuretics, Potassium Sparing Phase 4
17 Psychotropic Drugs Phase 4
18 Tranquilizing Agents Phase 4
19 Antipsychotic Agents Phase 4
20 Central Nervous System Depressants Phase 4
21 Antidepressive Agents Phase 4
22 Serotonin Uptake Inhibitors Phase 4
23 Neurotransmitter Agents Phase 4
24 Serotonin Agents Phase 4
25 Dopamine Agents Phase 4
26 Dopamine Antagonists Phase 4
27 Serotonin Antagonists Phase 4
28 Cholinergic Agents Phase 4
29 Autonomic Agents Phase 4
30 Quetiapine Fumarate Phase 4 111974-72-2
31 Muscarinic Antagonists Phase 4
32 Antiparkinson Agents Phase 4
33 Cholinergic Antagonists Phase 4
34 Parasympatholytics Phase 4
35
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
36
Bupropion Approved Phase 1 34841-39-9, 34911-55-2 444
37 Cytochrome P-450 Enzyme Inhibitors Phase 1
38 Dopamine Uptake Inhibitors Phase 1
39 Cytochrome P-450 CYP2D6 Inhibitors Phase 1
40
Levodopa Approved Early Phase 1 59-92-7 6047
41
tannic acid Approved 1401-55-4
42
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
43
leucovorin Approved 58-05-9 6006 143
44
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
45 Dihydroxyphenylalanine Early Phase 1
46 Nutrients
47 Trace Elements
48 Hematinics
49 Micronutrients
50 Vitamin B Complex

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Brain Mechanisms and Targeting Insomnia in Major Depression Unknown status NCT00628914 Phase 4 escitalopram and eszopiclone;Escitalopram, eszopiclone, and placebo;Escitalopram
2 A Placebo-Controlled Crossover Study of Iloperidone Augmentation of SSRIs for Residual Anger and Irritability in Major Depressive Disorder Completed NCT01464229 Phase 4 Iloperidone;Placebo
3 The Use of Quantitative EEG (QEEG) as a Predictor of Treatment Outcome in Major Depressive Disorder Completed NCT00157547 Phase 4 Selective serotonin reuptake inhibitors (SSRI)
4 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
5 A Comparison Study of Combined ECT and Risperidone Versus ECT Alone for Treatment Resistant Depression. Terminated NCT00203723 Phase 4 Risperidone
6 The Efficacy and Tolerability of Seroquel XR Combined With a Selective Serotonin Re-Uptake Inhibitor Versus Seroquel XR Monotherapy in the Acute Treatment of Major Depressive Disorder With Psychotic Features Terminated NCT00955474 Phase 4 Quetiapine;escitalopram;Sertraline;Citalopram
7 Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation Unknown status NCT02498340 Phase 2, Phase 3
8 A Double-Blind Sham Controlled Trial of rTMS in the Treatment of Bipolar Depression Unknown status NCT00436020 Phase 2
9 Does Sleep Quality Change After Switch From Wellbutrin SR to Wellbutrin XL in Patients With Major Depressive Disorder? Completed NCT00616915 Phase 1 Wellbutrin XL
10 Music Therapy for Major Depressive Disorder Residual Symptoms Unknown status NCT02925325
11 Renal Salt Handling in Postural Tachycardia Syndrome Following Dietary Dopa Administration Completed NCT01064739 Early Phase 1
12 Effect of Protein From Animal and Vegetable Sources on Appetite Completed NCT01345487
13 Role of Breakfast Size and Composition for Appetite Control and Energy Balance Completed NCT03077295
14 Tai Chi Training for Treating Depressed Chinese Americans Completed NCT01263730
15 Health Impacts of Sustainable Ingredient Selection in the Food and Drink Industry - ALTERNATIVE PROTEIN STUDY Completed NCT01898351
16 EnBrace HR for Depression Treatment and Prevention in Women Trying to Conceive and Early Pregnancy Completed NCT02676882
17 A Randomised Controlled Trial of Brief Culturally Adapted CBT for Depression in Pakistan Completed NCT01799551
18 Music to Improve Sleep Quality in Adults With Depression and Insomnia: a Randomized Controlled Trial Using Mixed Methods Recruiting NCT03676491

Search NIH Clinical Center for Fibro-Adipose Vascular Anomaly

Genetic Tests for Fibro-Adipose Vascular Anomaly

Anatomical Context for Fibro-Adipose Vascular Anomaly

MalaCards organs/tissues related to Fibro-Adipose Vascular Anomaly:

40
Brain

Publications for Fibro-Adipose Vascular Anomaly

Articles related to Fibro-Adipose Vascular Anomaly:

# Title Authors PMID Year
1
Clinical and imaging features in fibro-adipose vascular anomaly (FAVA). 61
31834427 2019
2
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations. 61
28779187 2017
3
Fat-containing soft-tissue masses in children. 61
27866258 2016
4
Cryoablation in fibro-adipose vascular anomaly (FAVA): a minimally invasive treatment option. 61
26902298 2016
5
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. 61
25681199 2015
6
Combined and complex vascular malformations. 61
25698387 2015
7
Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity. 61
24322574 2014
8
Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder. 61
25298836 2014

Variations for Fibro-Adipose Vascular Anomaly

Expression for Fibro-Adipose Vascular Anomaly

Search GEO for disease gene expression data for Fibro-Adipose Vascular Anomaly.

Pathways for Fibro-Adipose Vascular Anomaly

GO Terms for Fibro-Adipose Vascular Anomaly

Sources for Fibro-Adipose Vascular Anomaly

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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