KEGG   DISEASE: Yoon-Bellen neurodevelopmental syndrome
Entry
H02562                      Disease                                
Name
Yoon-Bellen neurodevelopmental syndrome
  Supergrp
Alpha-ketoglutarate dehydrogenase complex deficiency [DS:H02006]
Diseases of the tricarboxylic acid cycle [DS:H01022]
Mitochondrial disease [DS:H01427]
Description
Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism.
Category
Inherited metabolic disorder, Mitochondrial disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H02562  Yoon-Bellen neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
 Carbohydrate metabolism
  nt06031  Citrate cycle and pyruvate metabolism
   H02562  Yoon-Bellen neurodevelopmental syndrome
Pathway
hsa00020  Citrate cycle (TCA cycle)
Network
nt06031 Citrate cycle and pyruvate metabolism
Gene
OGDHL [HSA:55753] [KO:K00164]
Other DBs
ICD-11: 5C53.1
ICD-10: E88.4
OMIM: 619701
Reference
PMID:34800363
  Authors
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH
  Title
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
  Journal
Am J Hum Genet 108:2368-2384 (2021)
DOI:10.1016/j.ajhg.2021.11.003
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