LVNC8
MCID: LFT017
MIFTS: 28

Left Ventricular Noncompaction 8 (LVNC8)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Left Ventricular Noncompaction 8

MalaCards integrated aliases for Left Ventricular Noncompaction 8:

Name: Left Ventricular Noncompaction 8 57 72 29 6 70
Cardiomyopathy, Dilated, 1ll 57 70
Dilated Cardiomyopathy 1ll 29 6
Lvnc8 57 72
Left Ventricular Non-Compaction 8 72
Cardiomyopathy, Dilated 1ll 72
Cmd1ll 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
left ventricular noncompaction 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615373
OMIM Phenotypic Series 57 PS115200 PS604169
UMLS 70 C3809288 C3809289

Summaries for Left Ventricular Noncompaction 8

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1LL: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Left ventricular non-compaction 8: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition.

MalaCards based summary : Left Ventricular Noncompaction 8, is also known as cardiomyopathy, dilated, 1ll. An important gene associated with Left Ventricular Noncompaction 8 is PRDM16 (PR/SET Domain 16). Affiliated tissues include heart, and related phenotypes are mitral regurgitation and arrhythmia

More information from OMIM: 615373 PS115200 PS604169

Related Diseases for Left Ventricular Noncompaction 8

Symptoms & Phenotypes for Left Ventricular Noncompaction 8

Human phenotypes related to Left Ventricular Noncompaction 8:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 31 occasional (7.5%) HP:0001653
2 arrhythmia 31 occasional (7.5%) HP:0011675
3 congestive heart failure 31 HP:0001635
4 dilated cardiomyopathy 31 HP:0001644
5 abnormal left ventricle morphology 31 HP:0001711
6 abnormal left ventricular function 31 HP:0005162
7 left ventricular noncompaction 31 HP:0030682

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
left ventricular dysfunction
cardiac arrhythmias (in some patients)
heart failure (biventricular in some patients)
atrial dilation (bilateral in some patients)
ventricular dilation (bilateral in some patients)
more

Clinical features from OMIM®:

615373 (Updated 05-Apr-2021)

Drugs & Therapeutics for Left Ventricular Noncompaction 8

Search Clinical Trials , NIH Clinical Center for Left Ventricular Noncompaction 8

Genetic Tests for Left Ventricular Noncompaction 8

Genetic tests related to Left Ventricular Noncompaction 8:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 8 29 PRDM16
2 Dilated Cardiomyopathy 1ll 29

Anatomical Context for Left Ventricular Noncompaction 8

MalaCards organs/tissues related to Left Ventricular Noncompaction 8:

40
Heart

Publications for Left Ventricular Noncompaction 8

Articles related to Left Ventricular Noncompaction 8:

# Title Authors PMID Year
1
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 6 57
23768516 2013
2
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 57
21551322 2011
3
Mutations in sarcomere protein genes in left ventricular noncompaction. 57
18506004 2008
4
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. 61
33719213 2021

Variations for Left Ventricular Noncompaction 8

ClinVar genetic disease variations for Left Ventricular Noncompaction 8:

6 (show top 50) (show all 388)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRDM16 NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) SNV Pathogenic 60729 rs202115331 GRCh37: 1:3331180-3331180
GRCh38: 1:3414616-3414616
2 PRDM16 NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) SNV Pathogenic 60724 rs397514742 GRCh37: 1:3328865-3328865
GRCh38: 1:3412301-3412301
3 PRDM16 PRDM16, 1-BP DUP, 1573C Duplication Pathogenic 60725 GRCh37:
GRCh38:
4 PRDM16 NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) SNV Pathogenic 60726 rs397514743 GRCh37: 1:3329208-3329208
GRCh38: 1:3412644-3412644
5 PRDM16 NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) SNV Pathogenic 60728 rs397514744 GRCh37: 1:3319550-3319550
GRCh38: 1:3402986-3402986
6 PRDM16 NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter) SNV Pathogenic 1029845 GRCh37: 1:3301811-3301811
GRCh38: 1:3385247-3385247
7 PRDM16 NM_022114.4(PRDM16):c.1358C>T (p.Pro453Leu) SNV Uncertain significance 1036166 GRCh37: 1:3328119-3328119
GRCh38: 1:3411555-3411555
8 PRDM16 NM_022114.4(PRDM16):c.1855A>T (p.Thr619Ser) SNV Uncertain significance 1037018 GRCh37: 1:3328616-3328616
GRCh38: 1:3412052-3412052
9 PRDM16 NM_022114.4(PRDM16):c.1070G>A (p.Arg357His) SNV Uncertain significance 1038427 GRCh37: 1:3322096-3322096
GRCh38: 1:3405532-3405532
10 PRDM16 NM_022114.4(PRDM16):c.2442C>A (p.Ser814Arg) SNV Uncertain significance 1038732 GRCh37: 1:3329203-3329203
GRCh38: 1:3412639-3412639
11 PRDM16 NM_022114.4(PRDM16):c.3590A>G (p.Asp1197Gly) SNV Uncertain significance 1040278 GRCh37: 1:3348598-3348598
GRCh38: 1:3432034-3432034
12 PRDM16 NM_022114.4(PRDM16):c.1700A>G (p.Gln567Arg) SNV Uncertain significance 1040746 GRCh37: 1:3328461-3328461
GRCh38: 1:3411897-3411897
13 PRDM16 NM_022114.4(PRDM16):c.1555C>T (p.Pro519Ser) SNV Uncertain significance 1040917 GRCh37: 1:3328316-3328316
GRCh38: 1:3411752-3411752
14 PRDM16 NM_022114.4(PRDM16):c.1525G>A (p.Ala509Thr) SNV Uncertain significance 1042499 GRCh37: 1:3328286-3328286
GRCh38: 1:3411722-3411722
15 PRDM16 NM_022114.4(PRDM16):c.524C>T (p.Ala175Val) SNV Uncertain significance 1042807 GRCh37: 1:3301801-3301801
GRCh38: 1:3385237-3385237
16 PRDM16 NM_022114.4(PRDM16):c.2905C>T (p.His969Tyr) SNV Uncertain significance 1043512 GRCh37: 1:3335274-3335274
GRCh38: 1:3418710-3418710
17 PRDM16 NM_022114.4(PRDM16):c.1484C>T (p.Pro495Leu) SNV Uncertain significance 1045438 GRCh37: 1:3328245-3328245
GRCh38: 1:3411681-3411681
18 PRDM16 NM_022114.4(PRDM16):c.390A>G (p.Gln130=) SNV Uncertain significance 1046488 GRCh37: 1:3160653-3160653
GRCh38: 1:3244089-3244089
19 PRDM16 NM_022114.4(PRDM16):c.49G>T (p.Val17Phe) SNV Uncertain significance 474438 rs183153140 GRCh37: 1:3102700-3102700
GRCh38: 1:3186136-3186136
20 PRDM16 NM_022114.4(PRDM16):c.3487G>A (p.Ala1163Thr) SNV Uncertain significance 474431 rs747460948 GRCh37: 1:3347638-3347638
GRCh38: 1:3431074-3431074
21 PRDM16 NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp) SNV Uncertain significance 474439 rs769704263 GRCh37: 1:3102727-3102727
GRCh38: 1:3186163-3186163
22 PRDM16 NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) SNV Uncertain significance 229165 rs145632008 GRCh37: 1:3334486-3334486
GRCh38: 1:3417922-3417922
23 PRDM16 NM_022114.4(PRDM16):c.2809C>A (p.Pro937Thr) SNV Uncertain significance 573517 rs374972823 GRCh37: 1:3334509-3334509
GRCh38: 1:3417945-3417945
24 PRDM16 NM_022114.4(PRDM16):c.107A>C (p.Asp36Ala) SNV Uncertain significance 640545 rs746503102 GRCh37: 1:3102758-3102758
GRCh38: 1:3186194-3186194
25 PRDM16 NM_022114.4(PRDM16):c.3596G>A (p.Arg1199His) SNV Uncertain significance 645532 rs772196588 GRCh37: 1:3348604-3348604
GRCh38: 1:3432040-3432040
26 PRDM16 NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser) SNV Uncertain significance 650047 rs371011963 GRCh37: 1:3328719-3328719
GRCh38: 1:3412155-3412155
27 PRDM16 NM_022114.4(PRDM16):c.2062G>A (p.Ala688Thr) SNV Uncertain significance 656336 rs367580261 GRCh37: 1:3328823-3328823
GRCh38: 1:3412259-3412259
28 overlap with 60 genes NC_000001.10:g.(?_955543)_(3350385_?)del Deletion Uncertain significance 833146 GRCh37: 1:955543-3350385
GRCh38:
29 PRDM16 NM_022114.4(PRDM16):c.2771C>G (p.Pro924Arg) SNV Uncertain significance 835926 GRCh37: 1:3334471-3334471
GRCh38: 1:3417907-3417907
30 PRDM16 NM_022114.4(PRDM16):c.3363G>C (p.Glu1121Asp) SNV Uncertain significance 840229 GRCh37: 1:3347514-3347514
GRCh38: 1:3430950-3430950
31 PRDM16 NM_022114.4(PRDM16):c.3563C>T (p.Pro1188Leu) SNV Uncertain significance 846079 GRCh37: 1:3348571-3348571
GRCh38: 1:3432007-3432007
32 PRDM16 NM_022114.4(PRDM16):c.2167T>A (p.Ser723Thr) SNV Uncertain significance 846990 GRCh37: 1:3328928-3328928
GRCh38: 1:3412364-3412364
33 PRDM16 NM_022114.4(PRDM16):c.863G>C (p.Arg288Pro) SNV Uncertain significance 849151 GRCh37: 1:3319541-3319541
GRCh38: 1:3402977-3402977
34 PRDM16 NM_022114.4(PRDM16):c.2405C>T (p.Pro802Leu) SNV Uncertain significance 857463 GRCh37: 1:3329166-3329166
GRCh38: 1:3412602-3412602
35 PRDM16 NM_022114.4(PRDM16):c.395T>C (p.Leu132Pro) SNV Uncertain significance 859159 GRCh37: 1:3160658-3160658
GRCh38: 1:3244094-3244094
36 PRDM16 NM_022114.4(PRDM16):c.2691+5G>A SNV Uncertain significance 390179 rs375994227 GRCh37: 1:3331216-3331216
GRCh38: 1:3414652-3414652
37 PRDM16 NM_022114.4(PRDM16):c.658G>A (p.Val220Met) SNV Uncertain significance 860586 GRCh37: 1:3313139-3313139
GRCh38: 1:3396575-3396575
38 PRDM16 NM_022114.4(PRDM16):c.388C>G (p.Gln130Glu) SNV Uncertain significance 864138 GRCh37: 1:3160651-3160651
GRCh38: 1:3244087-3244087
39 PRDM16 NM_022114.4(PRDM16):c.2689C>T (p.Gln897Ter) SNV Uncertain significance 945246 GRCh37: 1:3331209-3331209
GRCh38: 1:3414645-3414645
40 PRDM16 NM_022114.4(PRDM16):c.3578G>A (p.Gly1193Glu) SNV Uncertain significance 950618 GRCh37: 1:3348586-3348586
GRCh38: 1:3432022-3432022
41 PRDM16 NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu) SNV Uncertain significance 953465 GRCh37: 1:3329123-3329123
GRCh38: 1:3412559-3412559
42 PRDM16 NM_022114.4(PRDM16):c.1715C>A (p.Ala572Asp) SNV Uncertain significance 954345 GRCh37: 1:3328476-3328476
GRCh38: 1:3411912-3411912
43 PRDM16 NM_022114.4(PRDM16):c.93C>G (p.Ser31Arg) SNV Uncertain significance 961865 GRCh37: 1:3102744-3102744
GRCh38: 1:3186180-3186180
44 PRDM16 NM_022114.4(PRDM16):c.2618G>A (p.Arg873Gln) SNV Uncertain significance 967938 GRCh37: 1:3331138-3331138
GRCh38: 1:3414574-3414574
45 PRDM16 NM_022114.4(PRDM16):c.1745G>A (p.Arg582His) SNV Uncertain significance 474412 rs529401311 GRCh37: 1:3328506-3328506
GRCh38: 1:3411942-3411942
46 PRDM16 NM_022114.4(PRDM16):c.1393C>G (p.Pro465Ala) SNV Uncertain significance 406236 rs763015619 GRCh37: 1:3328154-3328154
GRCh38: 1:3411590-3411590
47 PRDM16 NM_022114.4(PRDM16):c.3442G>A (p.Glu1148Lys) SNV Uncertain significance 406233 rs746465588 GRCh37: 1:3347593-3347593
GRCh38: 1:3431029-3431029
48 PRDM16 NM_022114.4(PRDM16):c.1972G>C (p.Ala658Pro) SNV Uncertain significance 406241 rs760438677 GRCh37: 1:3328733-3328733
GRCh38: 1:3412169-3412169
49 PRDM16 NM_022114.4(PRDM16):c.1485G>A (p.Pro495=) SNV Uncertain significance 406234 rs370666366 GRCh37: 1:3328246-3328246
GRCh38: 1:3411682-3411682
50 PRDM16 NM_022114.4(PRDM16):c.2443C>T (p.Gln815Ter) SNV Uncertain significance 406222 rs1060500997 GRCh37: 1:3329204-3329204
GRCh38: 1:3412640-3412640

UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 8:

72
# Symbol AA change Variation ID SNP ID
1 PRDM16 p.Asn816Ser VAR_070214 rs397514743

Expression for Left Ventricular Noncompaction 8

Search GEO for disease gene expression data for Left Ventricular Noncompaction 8.

Pathways for Left Ventricular Noncompaction 8

GO Terms for Left Ventricular Noncompaction 8

Sources for Left Ventricular Noncompaction 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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