[DEL] LEIGH SYNDROME, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: Pyruvate dehydrogenase E1-alpha deficiency [IBIS]
Number of Symptoms 0
OrphanetNr:
OMIM Id: 308930
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

identical to Orphanet:79243 "Pyruvate dehydrogenase E1-alpha deficiency; OMIM:308930 "LEIGH SYNDROME, X-LINKED" now moved to OMIM:312170 "PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a case of acute infantile Leigh syndrome, Matthews et al. (1993) demonstrated a point mutation in the PDHA1 gene (300502.0011). The infant was delivered by cesarean section at 36 weeks because of worsening preeclampsia and a breech ...