INTMYX
MCID: MYX012
MIFTS: 27

Myxoma, Intracardiac (INTMYX)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Myxoma, Intracardiac

MalaCards integrated aliases for Myxoma, Intracardiac:

Name: Myxoma, Intracardiac 58 13 41
Atrial Myxoma, Familial 58 54 30 6 74
Intracardiac Myxoma 54 76 74
Familial Atrial Myxoma 60
Intmyx 76

Characteristics:

Orphanet epidemiological data:

60
familial atrial myxoma
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33

Classifications:



External Ids:

OMIM 58 255960
MESH via Orphanet 46 C538262
ICD10 via Orphanet 35 D15.1
UMLS via Orphanet 75 C1850635
Orphanet 60 ORPHA615

Summaries for Myxoma, Intracardiac

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 615Disease definitionFamilial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissuecells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.Visit the Orphanet disease page for more resources.

MalaCards based summary : Myxoma, Intracardiac, also known as atrial myxoma, familial, is related to carney complex variant and headache associated with sexual activity. An important gene associated with Myxoma, Intracardiac is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). The drugs Oxycodone and Bupivacaine have been mentioned in the context of this disorder. Related phenotypes are cardiac myxoma and heart murmur

UniProtKB/Swiss-Prot : 76 Intracardiac myxoma: Inheritance is autosomal recessive.

Description from OMIM: 255960

Related Diseases for Myxoma, Intracardiac

Diseases related to Myxoma, Intracardiac via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carney complex variant 10.1
2 headache associated with sexual activity 9.9
3 cerebral aneurysms 9.9

Symptoms & Phenotypes for Myxoma, Intracardiac

Human phenotypes related to Myxoma, Intracardiac:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiac myxoma 60 33 obligate (100%) Obligate (100%) HP:0011672
2 heart murmur 60 33 hallmark (90%) Very frequent (99-80%) HP:0030148
3 pulmonic valve myxoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0006691
4 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
5 exertional dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002875
6 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
7 cardiomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001640
8 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
9 thromboembolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001907
10 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
11 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
12 chest pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0100749
13 tricuspid regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005180
14 bacterial endocarditis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006689
15 pedal edema 33 occasional (7.5%) HP:0010741
16 dilatation of the cerebral artery 60 33 very rare (1%) Very rare (<4-1%) HP:0004944
17 cholestasis 60 Occasional (29-5%)
18 aneurysm 60 Very rare (<4-1%)
19 edema of the lower limbs 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
pulmonic valve myxoma
left atrial myxoma
right atrial myxoma
bacterial endocarditis susceptible

Clinical features from OMIM:

255960

Drugs & Therapeutics for Myxoma, Intracardiac

Drugs for Myxoma, Intracardiac (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
2
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5 Pharmaceutical Solutions Phase 4
6 Epinephryl borate Phase 4
7 Central Nervous System Depressants Phase 4
8 Anesthetics Phase 4
9 Anesthetics, Local Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Carticaine Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Suspended NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride

Search NIH Clinical Center for Myxoma, Intracardiac

Genetic Tests for Myxoma, Intracardiac

Genetic tests related to Myxoma, Intracardiac:

# Genetic test Affiliating Genes
1 Atrial Myxoma, Familial 30 PRKAR1A

Anatomical Context for Myxoma, Intracardiac

Publications for Myxoma, Intracardiac

Articles related to Myxoma, Intracardiac:

# Title Authors Year
1
Intracardiac Myxoma, Cerebral Aneurysms and Elevated Interleukin-6. ( 26351445 )
2015
2
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. ( 10973256 )
2000
3
Familial myxomas in four siblings. ( 1263542 )
1976
4
Technetium-99m HSA blood pool scan in diagnosis of an intracardiac myxoma. ( 6019136 )
1967

Variations for Myxoma, Intracardiac

ClinVar genetic disease variations for Myxoma, Intracardiac:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_212472.2(PRKAR1A): c.618_621del (p.Ile206Metfs) deletion Pathogenic rs281864791 GRCh37 Chromosome 17, 66521963: 66521966
2 PRKAR1A NM_212472.2(PRKAR1A): c.618_621del (p.Ile206Metfs) deletion Pathogenic rs281864791 GRCh38 Chromosome 17, 68525822: 68525825
3 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic rs1555815121 GRCh38 Chromosome 17, 68530306: 68530306
4 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic rs1555815121 GRCh37 Chromosome 17, 66526447: 66526447

Expression for Myxoma, Intracardiac

Search GEO for disease gene expression data for Myxoma, Intracardiac.

Pathways for Myxoma, Intracardiac

GO Terms for Myxoma, Intracardiac

Sources for Myxoma, Intracardiac

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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