Details of Disease

General Information of Disease (ID: DISK9OIQ)

Disease Name Amyotrophic lateral sclerosis type 19
Synonyms amyotrophic lateral sclerosis 19; amyotrophic lateral sclerosis caused by mutation in ERBB4; amyotrophic lateral sclerosis type 19; ERBB4 amyotrophic lateral sclerosis; ALS19
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISK9OIQ: Amyotrophic lateral sclerosis type 19
Disease Identifiers
MONDO ID
MONDO_0014223
UMLS CUI
C3715155
OMIM ID
615515
MedGen ID
811607

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ERBB4 TTWALCO Limited Biomarker [1]
ERBB4 TTWALCO Strong Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERBB4 OT9L6C41 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10.