MSeqDR Mitochondrial Disease Portal


 
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Muscular Dystrophy, Facioscapulohumeral (D020391)
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Facioscapulohumeral muscular dystrophy 1a (C536391)

       Child Nodes:



 Sister Nodes: 
..expandFacioscapulohumeral muscular dystrophy 1a (C536391)
..expandFacioscapulohumeral Muscular Dystrophy 1B (C563557)
..expandMuscular Dystrophy, Scapulohumeral (C562932)
..expandMyopathy with Storage of Glycoproteins and Glycosaminoglycans (C563542)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4530
Name:Facioscapulohumeral muscular dystrophy 1a
Definition:
Alternative IDs:OMIM:158900
ParentIDs:MESH:D020391
TreeNumbers:C05.651.534.500.400/C536391 |C10.668.491.175.500.400/C536391 |C16.320.577.400/C536391
Synonyms:Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles |FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, INCLUDED |FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY |FACIOSC
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C536391
MeSH: C536391
OMIM: 158900;
MSeqDR LSDB:  
Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011463Childhood onset
3 HP:0009023Abdominal wall muscle weakness
4 HP:0030664Beevor's sign
5 HP:0008981Calf muscle hypertrophy
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
HP:0040283
7 HP:0003236Elevated serum creatine phosphokinase
8 HP:0000544External ophthalmoplegia
9 HP:0012231Exudative retinal detachment
10 HP:0010628Facial palsy
11 HP:0001249Intellectual disability
12 HP:0002111Restrictive deficit on pulmonary function testing
13 HP:0007763Retinal telangiectasia
14 HP:0003691Scapular winging
15 HP:0008970Scapulohumeral muscular dystrophy
16 HP:0001250Seizures
NAMDC:  Seizures
17 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
18 HP:0003724Shoulder girdle muscle atrophy
19 HP:0003547Shoulder girdle muscle weakness
20 HP:0003677Slow progression
21 HP:0012473Tongue atrophy
Disease Causing ClinVar Variants
MSeqDR Portal