Left vetricular noncompaction 7
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LVNC7 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
615092
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Left ventricular noncompaction
-Rare cardiac disease -Rare genetic disease |
Comment:
| Left vetricular noncompaction 7 is associated with heterozygous missense mutation(Val943Phe) (rs200035428) or heterozygous arg530-to-ter (Arg530X) substitution (rs201850378) in MIB1 in two Spanish families with LVNC over 3 and 2 generations, respectively (PMID:23314057). |
Symptom Information:
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(HPO:0011712) | Right bundle branch block | 23314057 | IBIS | 34 / 7739 | ||
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(HPO:0011664) | Left ventricular noncompaction cardiomyopathy | 23314057 | IBIS | 10 / 7739 | ||
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(HPO:0005172) | Left posterior fascicular block | 23314057 | IBIS | 2 / 7739 | ||
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(OMIM) | Prominent trabeculations | 23314057 | IBIS | 3 / 7739 |
Associated genes:
| MIB1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| MIB1 | rs200035428 | pathogenic | RCV000033169.2 |
| MIB1 | rs201850378 | pathogenic | RCV000033170.2 |
Additional Information:
| Molecular genetics OMIM |
Luxan et al. (2013) analyzed the MIB1 gene in 100 Spanish probands of southern European ancestry with left ventricular noncompaction and in 2 probands identified heterozygosity for a missense (V943F; 608677.0001) and a nonsense (R530X; 608677.0002) mutation, respectively. ... |