Details of Disease

General Information of Disease (ID: DISWPGLM)

Disease Name Autosomal recessive limb-girdle muscular dystrophy
Synonyms limb-girdle muscular dystrophy, autosomal recessive; muscular dystrophy, limb-girdle, autosomal recessive; autosomal recessive limb-girdle muscular dystrophy
Definition Autosomal recessive form of limb-girdle muscular dystrophy.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISI9Y1Z: Limb-girdle muscular dystrophy
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0015152
MESH ID
C538640
UMLS CUI
C2931907
MedGen ID
419194
Orphanet ID
102015

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DYSF TTA7MXQ Definitive Autosomal recessive [1]
SGCA TTS9Q5V Definitive Autosomal recessive [1]
SGCB TTEDCQ0 Definitive Autosomal recessive [1]
SGCG TTSMT9W Definitive Autosomal recessive [1]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLEC OTU4XDEG Moderate Autosomal recessive [1]
ANO5 OTOW8R6H Definitive Autosomal recessive [1]
BVES OT4GT1WC Definitive Autosomal recessive [1]
CAPN3 OTCHG3YK Definitive Autosomal recessive [1]
DYSF OTNSKJU0 Definitive Autosomal recessive [1]
POGLUT1 OTDX7GZD Definitive Autosomal recessive [1]
SGCA OTCLJVZV Definitive Autosomal recessive [1]
SGCB OT5R5LAT Definitive Autosomal recessive [1]
SGCD OTRBL3NQ Definitive Autosomal recessive [1]
SGCG OTOLWHIQ Definitive Autosomal recessive [1]
TCAP OTQQMJ94 Definitive Autosomal recessive [1]
TRAPPC11 OTPZYXGA Definitive Autosomal recessive [1]
TRIM32 OTJOV0PG Definitive Autosomal recessive [1]
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⏷ Show the Full List of 13 DOT(s)

References

1 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.