Details of Disease

General Information of Disease (ID: DISV5DEN)

Disease Name Arthrogryposis multiplex congenita 2, neurogenic type
Synonyms
neurogenic type of AMC; arthrogryposis multiplex congenita, neurogenic type; AMC, neurogenic type; AMC neurogenic type; arthrogryposis multiplex congenita neurogenic type; AMCN; neurogenic arthrogryposis multiplex congenita
Definition
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Disease Hierarchy
DISMCQP6: Arthrogryposis multiplex congenita
DISV5DEN: Arthrogryposis multiplex congenita 2, neurogenic type
Disease Identifiers
MONDO ID
MONDO_0008823
UMLS CUI
C5435650
OMIM ID
208100
MedGen ID
1725686
Orphanet ID
1143

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERGIC1 OT351FKB Supportive Autosomal recessive [1]
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References

1 Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. Clin Genet. 2018 Jan;93(1):160-163. doi: 10.1111/cge.13018. Epub 2017 Jul 26.