Reducing body myopathy, X-linked 1b, with late childhood or adult onset

Preferred Label : Reducing body myopathy, X-linked 1b, with late childhood or adult onset;

Symbol : RBMX1B;

CISMeF acronym : RBMX1B;

Type : Phenotype, molecular basis known;

Description : Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable and can be classified into 3 main forms: severe early-onset, childhood-onset, and adult-onset (Liewluck et al., 2007).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene ().;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300718;

Détails

Origin ID

300718;

UMLS CUI

C4225159;

Automatic exact mappings (from CISMeF team)
- Reducing body myopathy [ORDO Disease]
Broader ORDO disease(s)
- Reducing body myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- myopathy, reducing body, X-Linked, Childhood-Onset [MeSH concept]
- myopathy, reducing body, X-Linked, Childhood-Onset [MeSH Supplementary Concept]
DO Cross reference
- reducing body myopathy 1B [DO Concept]
Genes related to phenotype
- Four-and-a-half lim domains 1 [OMIM gene]
HPO term(s)
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Frequent falls [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Proximal muscle weakness [HPO term]
- Rapidly progressive [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Spinal rigidity [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Reducing body myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients