INTMYX
MCID: MYX012
MIFTS: 28

Myxoma, Intracardiac (INTMYX)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Myxoma, Intracardiac

MalaCards integrated aliases for Myxoma, Intracardiac:

Name: Myxoma, Intracardiac 56 13 39
Atrial Myxoma, Familial 56 52 29 6 71
Intracardiac Myxoma 52 73 71
Familial Atrial Myxoma 58
Intmyx 73

Characteristics:

Orphanet epidemiological data:

58
familial atrial myxoma
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31

Classifications:



External Ids:

OMIM 56 255960
MESH via Orphanet 44 C538262
ICD10 via Orphanet 33 D15.1
UMLS via Orphanet 72 C1850635
Orphanet 58 ORPHA615
UMLS 71 C1850635 C2931787

Summaries for Myxoma, Intracardiac

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 615 Definition Familial 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 tissue cells 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 heart septal defect. An important gene associated with Myxoma, Intracardiac is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). Affiliated tissues include heart, and related phenotypes are cardiac myxoma and heart murmur

UniProtKB/Swiss-Prot : 73 Intracardiac myxoma: Inheritance is autosomal recessive.

More information from OMIM: 255960

Related Diseases for Myxoma, Intracardiac

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 carney complex variant 10.2
2 heart septal defect 10.1
3 lipomatosis, multiple 9.9
4 cyanosis, transient neonatal 9.9
5 limb ischemia 9.9
6 lung abscess 9.9
7 cardiac arrest 9.9
8 pleomorphic lipoma 9.9
9 atrial heart septal defect 9.9
10 lipid metabolism disorder 9.9
11 congestive heart failure 9.9
12 aneurysm 9.9
13 cerebral aneurysms 9.9
14 syncope 9.9
15 lentigines 9.9
16 carney complex, type 1 9.9
17 carney complex, type 2 9.9
18 conn's syndrome 9.9
19 48,xyyy 9.9

Graphical network of the top 20 diseases related to Myxoma, Intracardiac:



Diseases related to Myxoma, Intracardiac

Symptoms & Phenotypes for Myxoma, Intracardiac

Human phenotypes related to Myxoma, Intracardiac:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiac myxoma 58 31 obligate (100%) Obligate (100%) HP:0011672
2 heart murmur 58 31 hallmark (90%) Very frequent (99-80%) HP:0030148
3 pulmonic valve myxoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0006691
4 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
5 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
6 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
7 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
8 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
9 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
10 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
11 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
12 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
13 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
14 bacterial endocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006689
15 pedal edema 31 occasional (7.5%) HP:0010741
16 dilatation of the cerebral artery 58 31 very rare (1%) Very rare (<4-1%) HP:0004944
17 cholestasis 58 Occasional (29-5%)
18 aneurysm 58 Very rare (<4-1%)
19 edema of the lower limbs 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
pulmonic valve myxoma
left atrial myxoma
right atrial myxoma
bacterial endocarditis susceptible

Clinical features from OMIM:

255960

Drugs & Therapeutics for Myxoma, Intracardiac

Search Clinical Trials , 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 29 PRKAR1A

Anatomical Context for Myxoma, Intracardiac

MalaCards organs/tissues related to Myxoma, Intracardiac:

40
Heart

Publications for Myxoma, Intracardiac

Articles related to Myxoma, Intracardiac:

(show all 16)
# Title Authors PMID Year
1
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. 56 6
10973256 2000
2
Familial myxomas in four siblings. 6 56
1263542 1976
3
Nonsyndrome familial atrial myxoma in two generations. 56
7564466 1995
4
Familial cardiac myxoma. A study of relatives of patients with myxoma. 56
8275787 1994
5
Familial cardiac myxoma. 56
1540058 1992
6
Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. 56
3586714 1987
7
The complex of myxomas, spotty pigmentation, and endocrine overactivity. 56
4010501 1985
8
Differences between nonfamilial and familial cardiac myxoma. 56
3970298 1985
9
Familial atrial myxoma with bilateral recurrence. 56
6556173 1983
10
Familial cardiac myxoma: emphasis on unusual clinical manifestations. 56
431115 1979
11
Atrial myxoma in a family. 56
133607 1976
12
Familial atrial myxoma. 56
1180432 1975
13
Familial atrial myxoma. 56
4725591 1973
14
Atrial myxoma in siblings. 56
4686668 1973
15
Intracardiac myxoma in siblings. 56
5115867 1971
16
[Myxoma, intracardiac]. 61
11528731 2001

Variations for Myxoma, Intracardiac

ClinVar genetic disease variations for Myxoma, Intracardiac:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKAR1A NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs)deletion Pathogenic 12665 rs281864791 17:66521963-66521966 17:68525822-68525825
2 PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys)SNV Likely pathogenic 433148 rs1555815121 17:66526447-66526447 17:68530306-68530306

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
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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