MCID: LFT017
MIFTS: 21

Left Ventricular Noncompaction 8

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

Aliases & Classifications for Left Ventricular Noncompaction 8

MalaCards integrated aliases for Left Ventricular Noncompaction 8:

Name: Left Ventricular Noncompaction 8 57 75 29 6 73
Cardiomyopathy, Dilated, 1ll 57 73
Dilated Cardiomyopathy 1ll 29 6
Lvnc8 57 75
Ventricular Noncompaction, Left, Type 8 40
Left Ventricular Non-Compaction 8 75
Cardiomyopathy, Dilated 1ll 75
Cmd1ll 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
left ventricular noncompaction 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Left Ventricular Noncompaction 8

UniProtKB/Swiss-Prot : 75 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 arrhythmia and congestive heart failure

Description from OMIM: 615373

Related Diseases for Left Ventricular Noncompaction 8

Symptoms & Phenotypes for Left Ventricular Noncompaction 8

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

615373

Human phenotypes related to Left Ventricular Noncompaction 8:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 arrhythmia 32 occasional (7.5%) HP:0011675
2 congestive heart failure 32 HP:0001635
3 mitral regurgitation 32 occasional (7.5%) HP:0001653
4 dilated cardiomyopathy 32 HP:0001644
5 left ventricular noncompaction 32 HP:0030682
6 abnormal left ventricle morphology 32 HP:0001711

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 Dilated Cardiomyopathy 1ll 29
2 Left Ventricular Noncompaction 8 29 PRDM16

Anatomical Context for Left Ventricular Noncompaction 8

MalaCards organs/tissues related to Left Ventricular Noncompaction 8:

41
Heart

Publications for Left Ventricular Noncompaction 8

Variations for Left Ventricular Noncompaction 8

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

75
# Symbol AA change Variation ID SNP ID
1 PRDM16 p.Asn816Ser VAR_070214 rs397514743

ClinVar genetic disease variations for Left Ventricular Noncompaction 8:

6
(show top 50) (show all 323)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRDM16 NM_022114.3(PRDM16): c.2104A> T (p.Lys702Ter) single nucleotide variant Pathogenic rs397514742 GRCh37 Chromosome 1, 3328865: 3328865
2 PRDM16 NM_022114.3(PRDM16): c.2104A> T (p.Lys702Ter) single nucleotide variant Pathogenic rs397514742 GRCh38 Chromosome 1, 3412301: 3412301
3 PRDM16 PRDM16, 1-BP DUP, 1573C duplication Pathogenic
4 PRDM16 NM_022114.3(PRDM16): c.2447A> G (p.Asn816Ser) single nucleotide variant Pathogenic rs397514743 GRCh37 Chromosome 1, 3329208: 3329208
5 PRDM16 NM_022114.3(PRDM16): c.2447A> G (p.Asn816Ser) single nucleotide variant Pathogenic rs397514743 GRCh38 Chromosome 1, 3412644: 3412644
6 PRDM16 NM_022114.3(PRDM16): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs397514744 GRCh37 Chromosome 1, 3319550: 3319550
7 PRDM16 NM_022114.3(PRDM16): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs397514744 GRCh38 Chromosome 1, 3402986: 3402986
8 PRDM16 NM_022114.3(PRDM16): c.2660T> C (p.Leu887Pro) single nucleotide variant Pathogenic rs202115331 GRCh37 Chromosome 1, 3331180: 3331180
9 PRDM16 NM_022114.3(PRDM16): c.2660T> C (p.Leu887Pro) single nucleotide variant Pathogenic rs202115331 GRCh38 Chromosome 1, 3414616: 3414616
10 PRDM16 NM_022114.3(PRDM16): c.1071C> T (p.Arg357=) single nucleotide variant Benign rs2483221 GRCh37 Chromosome 1, 3322097: 3322097
11 PRDM16 NM_022114.3(PRDM16): c.1071C> T (p.Arg357=) single nucleotide variant Benign rs2483221 GRCh38 Chromosome 1, 3405533: 3405533
12 PRDM16 NM_022114.3(PRDM16): c.2100C> T (p.Ala700=) single nucleotide variant Likely benign rs565237990 GRCh37 Chromosome 1, 3328861: 3328861
13 PRDM16 NM_022114.3(PRDM16): c.2100C> T (p.Ala700=) single nucleotide variant Likely benign rs565237990 GRCh38 Chromosome 1, 3412297: 3412297
14 PRDM16 NM_022114.3(PRDM16): c.100G> A (p.Ala34Thr) single nucleotide variant Benign/Likely benign rs187194973 GRCh37 Chromosome 1, 3102751: 3102751
15 PRDM16 NM_022114.3(PRDM16): c.100G> A (p.Ala34Thr) single nucleotide variant Benign/Likely benign rs187194973 GRCh38 Chromosome 1, 3186187: 3186187
16 PRDM16 NM_022114.3(PRDM16): c.201G> A (p.Pro67=) single nucleotide variant Benign/Likely benign rs199614349 GRCh38 Chromosome 1, 3186288: 3186288
17 PRDM16 NM_022114.3(PRDM16): c.201G> A (p.Pro67=) single nucleotide variant Benign/Likely benign rs199614349 GRCh37 Chromosome 1, 3102852: 3102852
18 PRDM16 NM_022114.3(PRDM16): c.387+6C> T single nucleotide variant Benign rs369010644 GRCh37 Chromosome 1, 3103044: 3103044
19 PRDM16 NM_022114.3(PRDM16): c.387+6C> T single nucleotide variant Benign rs369010644 GRCh38 Chromosome 1, 3186480: 3186480
20 PRDM16 NM_022114.3(PRDM16): c.429C> T (p.Cys143=) single nucleotide variant Benign/Likely benign rs150097149 GRCh37 Chromosome 1, 3160692: 3160692
21 PRDM16 NM_022114.3(PRDM16): c.429C> T (p.Cys143=) single nucleotide variant Benign/Likely benign rs150097149 GRCh38 Chromosome 1, 3244128: 3244128
22 PRDM16 NM_022114.3(PRDM16): c.627C> T (p.His209=) single nucleotide variant Benign rs12058363 GRCh38 Chromosome 1, 3396544: 3396544
23 PRDM16 NM_022114.3(PRDM16): c.627C> T (p.His209=) single nucleotide variant Benign rs12058363 GRCh37 Chromosome 1, 3313108: 3313108
24 PRDM16 NM_022114.3(PRDM16): c.783C> T (p.Tyr261=) single nucleotide variant Benign rs61756439 GRCh38 Chromosome 1, 3402897: 3402897
25 PRDM16 NM_022114.3(PRDM16): c.783C> T (p.Tyr261=) single nucleotide variant Benign rs61756439 GRCh37 Chromosome 1, 3319461: 3319461
26 PRDM16 NM_022114.3(PRDM16): c.1093G> T (p.Ala365Ser) single nucleotide variant Uncertain significance rs200562747 GRCh37 Chromosome 1, 3322119: 3322119
27 PRDM16 NM_022114.3(PRDM16): c.1093G> T (p.Ala365Ser) single nucleotide variant Uncertain significance rs200562747 GRCh38 Chromosome 1, 3405555: 3405555
28 PRDM16 NM_022114.3(PRDM16): c.1113C> T (p.Cys371=) single nucleotide variant Benign rs61745281 GRCh37 Chromosome 1, 3322139: 3322139
29 PRDM16 NM_022114.3(PRDM16): c.1113C> T (p.Cys371=) single nucleotide variant Benign rs61745281 GRCh38 Chromosome 1, 3405575: 3405575
30 PRDM16 NM_022114.3(PRDM16): c.1134C> G (p.Ser378=) single nucleotide variant Benign/Likely benign rs200169663 GRCh38 Chromosome 1, 3405596: 3405596
31 PRDM16 NM_022114.3(PRDM16): c.1134C> G (p.Ser378=) single nucleotide variant Benign/Likely benign rs200169663 GRCh37 Chromosome 1, 3322160: 3322160
32 PRDM16 NM_022114.3(PRDM16): c.1187-10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201517837 GRCh38 Chromosome 1, 3411374: 3411374
33 PRDM16 NM_022114.3(PRDM16): c.1187-10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs201517837 GRCh37 Chromosome 1, 3327938: 3327938
34 PRDM16 NM_022114.3(PRDM16): c.1212G> A (p.Thr404=) single nucleotide variant Benign rs139129844 GRCh38 Chromosome 1, 3411409: 3411409
35 PRDM16 NM_022114.3(PRDM16): c.1212G> A (p.Thr404=) single nucleotide variant Benign rs139129844 GRCh37 Chromosome 1, 3327973: 3327973
36 PRDM16 NM_022114.3(PRDM16): c.1518G> A (p.Thr506=) single nucleotide variant Benign rs368589754 GRCh37 Chromosome 1, 3328279: 3328279
37 PRDM16 NM_022114.3(PRDM16): c.1518G> A (p.Thr506=) single nucleotide variant Benign rs368589754 GRCh38 Chromosome 1, 3411715: 3411715
38 PRDM16 NM_022114.3(PRDM16): c.1426C> T (p.Pro476Ser) single nucleotide variant Benign/Likely benign rs188908415 GRCh37 Chromosome 1, 3328187: 3328187
39 PRDM16 NM_022114.3(PRDM16): c.1426C> T (p.Pro476Ser) single nucleotide variant Benign/Likely benign rs188908415 GRCh38 Chromosome 1, 3411623: 3411623
40 PRDM16 NM_022114.3(PRDM16): c.1578G> A (p.Pro526=) single nucleotide variant Likely benign rs376747653 GRCh38 Chromosome 1, 3411775: 3411775
41 PRDM16 NM_022114.3(PRDM16): c.1578G> A (p.Pro526=) single nucleotide variant Likely benign rs376747653 GRCh37 Chromosome 1, 3328339: 3328339
42 PRDM16 NM_022114.3(PRDM16): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs150395260 GRCh38 Chromosome 1, 3411881: 3411881
43 PRDM16 NM_022114.3(PRDM16): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs150395260 GRCh37 Chromosome 1, 3328445: 3328445
44 PRDM16 NM_022114.3(PRDM16): c.2089G> T (p.Ala697Ser) single nucleotide variant Uncertain significance rs779334537 GRCh38 Chromosome 1, 3412286: 3412286
45 PRDM16 NM_022114.3(PRDM16): c.2089G> T (p.Ala697Ser) single nucleotide variant Uncertain significance rs779334537 GRCh37 Chromosome 1, 3328850: 3328850
46 PRDM16 NM_022114.3(PRDM16): c.2091A> T (p.Ala697=) single nucleotide variant Benign rs35184988 GRCh38 Chromosome 1, 3412288: 3412288
47 PRDM16 NM_022114.3(PRDM16): c.2091A> T (p.Ala697=) single nucleotide variant Benign rs35184988 GRCh37 Chromosome 1, 3328852: 3328852
48 PRDM16 NM_022114.3(PRDM16): c.2290G> A (p.Val764Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149333409 GRCh38 Chromosome 1, 3412487: 3412487
49 PRDM16 NM_022114.3(PRDM16): c.2290G> A (p.Val764Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149333409 GRCh37 Chromosome 1, 3329051: 3329051
50 PRDM16 NM_022114.3(PRDM16): c.2468G> C (p.Arg823Pro) single nucleotide variant Benign/Likely benign rs371654192 GRCh38 Chromosome 1, 3412665: 3412665

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

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