Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts

General Information (adopted from Orphanet):

Synonyms, Signs: Lyon syndrome
Number of Symptoms 12
OrphanetNr:
OMIM Id: 225740
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases - PMID: 2317015 [IBIS]
Inheritance: Autosomal recessive
- PMID: 2317015 [IBIS]
Age of onset: Infancy
- PMID: 2317015 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Cardiomyopathy
 -Rare cardiac disease

Comment:

The severe congenital encephalopathy and profound hypotonia were associated with necrotizing myopathy, cardiomyopathy, and cataracts in 3 infants, including 2 sisters (PMID:2317015).

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 2317015 IBIS 454 / 7739
2
(HPO:0007239) Congenital encephalopathy 2317015 IBIS 2 / 7739
3
(HPO:0000759) Abnormal peripheral nervous system morphology 2317015 IBIS 4 / 7739
4
(HPO:0001638) Cardiomyopathy 2317015 IBIS 192 / 7739
5
(HPO:0008947) Infantile muscular hypotonia 2317015 IBIS 482 / 7739
6
(HPO:0001324) Muscle weakness 2317015 IBIS 859 / 7739
7
(HPO:0010547) Muscle flaccidity 2317015 IBIS 466 / 7739
8
(HPO:0001252) Muscular hypotonia 2317015 IBIS 990 / 7739
9
(HPO:0008978) Necrotizing myopathy 2317015 IBIS 1 / 7739
10
(HPO:0002062) Morphological abnormality of the pyramidal tract 2317015 IBIS 24 / 7739
11
(HPO:0001274) Agenesis of corpus callosum 2317015 IBIS 142 / 7739
12
(HPO:0007371) Corpus callosum atrophy 2317015 IBIS 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sisters, offspring of consanguineous parents of Turkish ancestry, and a third unrelated girl born of nonconsanguineous parents, Lyon et al. (1990) described a severe form of congenital encephalopathy and profound hypotonia associated with necrotizing myopathy, cardiomyopathy, ...