Details of Disease

General Information of Disease (ID: DISGFJL6)

Disease Name Bailey-Bloch congenital myopathy
Synonyms
congenital myopathy cleft palate and malignant hyperthermia; myopathy, congenital, with cleft palate and malignant hyperthermia; congenital myopathy - cleft palate - malignant hyperthermia; NAM; Bailey-Bloch congenital myopathy; congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy; myopathy, congenital, baily-bloch; STAC3 disorder
Definition
Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISLSK9G: Congenital myopathy
DISD715V: Hereditary neurological disease
DISGFJL6: Bailey-Bloch congenital myopathy
Disease Identifiers
MONDO ID
MONDO_0009722
MESH ID
C538343
UMLS CUI
C1850625
OMIM ID
255995
MedGen ID
340586
Orphanet ID
168572
SNOMED CT ID
723439002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NINJ1 OTLRZ1EU Limited Biomarker [1]
STAC3 OTPY3BGK Definitive Autosomal recessive [2]
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References

1 Neuroprotective and Anti-inflammatory Effects of a Dodecamer Peptide Harboring Ninjurin 1 Cell Adhesion Motif in the Postischemic Brain.Mol Neurobiol. 2018 Jul;55(7):6094-6111. doi: 10.1007/s12035-017-0810-1. Epub 2017 Nov 14.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.